# Format description can be found in the following file: # ftp://ftp.ncbi.nih.gov/snp/organisms/human_9606/gene_report/00Gene_report_format_README.txt # Submitter handle (dbSNP submitter ID) Gene ID Submitted HGVS name Calculated HGVS name ss# rs# Submitter's variant ID rs MAF rs Allele origin rs SNP suspect Clinical significance ss Create time ss Upate time rs Create time rs Update time dbSNP build number 1000GENOMES 8431 328491591 147786540 20100804_snps_135127_chr1_27237675 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 8431 326017054 141555161 JPTCHB_chr1_27110536_indel 2011.03.11 2011.04.01 2011.05.09 2011.09.09 132 1000GENOMES 8431 NM_021969.2:c.*296T>C;NG_012143.1:g.7528T>C;NM_021969.2:c.*296T>C;NT_004610.19:g.13918128A>G 218294388 76740139 pilot_1_YRI_104071_chr1_27110627 7.31e-03 2010.04.22 2010.04.22 2009.12.01 2011.07.08 132 LI_WANG 8431 NM_021969.2:c.*187T>C;NG_012143.1:g.7419T>C;NM_021969.2:c.*187T>C;NT_004610.19:g.13918237A>G 142101879 76142569 HshpEXON2 3UTR186 2009.05.26 2009.05.26 2009.12.01 2011.07.08 132 1000GENOMES 8431 NM_021969.2:c.*186T>C;NG_012143.1:g.7418T>C;NM_021969.2:c.*186T>C;NT_004610.19:g.13918238A>G 108078111 7504 CEU.trio.12.15.2008_35055_chr1_27110737 4.85e-01 2008.12.15 2008.12.15 2000.09.19 2011.10.06 132 1000GENOMES 8431 NM_021969.2:c.*186T>C;NG_012143.1:g.7418T>C;NM_021969.2:c.*186T>C;NT_004610.19:g.13918238A>G 218294389 7504 pilot_1_YRI_104072_chr1_27110737 4.85e-01 2010.04.22 2010.04.22 2000.09.19 2011.10.06 132 1000GENOMES 8431 NM_021969.2:c.*186T>C;NG_012143.1:g.7418T>C;NM_021969.2:c.*186T>C;NT_004610.19:g.13918238A>G 230470031 7504 pilot_1_CEU_74660_chr1_27110737 4.85e-01 2010.05.01 2010.05.01 2000.09.19 2011.10.06 132 1000GENOMES 8431 NM_021969.2:c.*186T>C;NG_012143.1:g.7418T>C;NM_021969.2:c.*186T>C;NT_004610.19:g.13918238A>G 238175849 7504 pilot_1_CHB+JPT_60926_chr1_27110737 4.85e-01 2010.05.01 2010.05.01 2000.09.19 2011.10.06 132 ABI 8431 NM_021969.2:c.*186T>C;NG_012143.1:g.7418T>C;NM_021969.2:c.*186T>C;NT_004610.19:g.13918238A>G 44012114 7504 hCV1246375 4.85e-01 2005.07.18 2006.11.03 2000.09.19 2011.10.06 132 BCM-HGSC-SUB 8431 NM_021969.2:c.*186T>C;NG_012143.1:g.7418T>C;NM_021969.2:c.*186T>C;NT_004610.19:g.13918238A>G 205155027 7504 BCM_CMT_1011-57375 4.85e-01 2010.03.15 2010.03.15 2000.09.19 2011.10.06 132 BCM_SSAHASNP 8431 NM_021969.2:c.*186T>C;NG_012143.1:g.7418T>C;NM_021969.2:c.*186T>C;NT_004610.19:g.13918238A>G 9863286 7504 chr1.NT_037485.3_1349359 4.85e-01 2003.06.28 2003.10.10 2000.09.19 2011.10.06 132 BL 8431 NM_021969.2:c.*186T>C;NG_012143.1:g.7418T>C;NM_021969.2:c.*186T>C;NT_004610.19:g.13918238A>G 252997018 7504 SNP33535_1_27110737 4.85e-01 2010.08.18 2010.08.18 2000.09.19 2011.10.06 132 BUSHMAN 8431 NM_021969.2:c.*186T>C;NG_012143.1:g.7418T>C;NM_021969.2:c.*186T>C;NT_004610.19:g.13918238A>G 198205397 7504 BUSHMAN-chr1-27110736 4.85e-01 2010.03.06 2010.03.06 2000.09.19 2011.10.06 132 CGAP-GAI 8431 NM_021969.2:c.*186T>C;NG_012143.1:g.7418T>C;NM_021969.2:c.*186T>C;NT_004610.19:g.13918238A>G 9379 7504 49966 4.85e-01 1999.08.23 2004.04.07 2000.09.19 2011.10.06 132 CGAP-GAI 8431 NM_021969.2:c.*186T>C;NG_012143.1:g.7418T>C;NM_021969.2:c.*186T>C;NT_004610.19:g.13918238A>G 16226184 7504 1460102 4.85e-01 2003.11.18 2003.11.22 2000.09.19 2011.10.06 132 ENSEMBL 8431 NM_021969.2:c.*186T>C;NG_012143.1:g.7418T>C;NM_021969.2:c.*186T>C;NT_004610.19:g.13918238A>G 138988010 7504 ENSSNP203873 4.85e-01 2009.05.18 2009.10.16 2000.09.19 2011.10.06 132 GMI 8431 NM_021969.2:c.*186T>C;NG_012143.1:g.7418T>C;NM_021969.2:c.*186T>C;NT_004610.19:g.13918238A>G 154798362 7504 GMI_SNP_100753189 4.85e-01 2009.06.24 2009.06.24 2000.09.19 2011.10.06 132 HGSV 8431 NM_021969.2:c.*186T>C;NG_012143.1:g.7418T>C;NM_021969.2:c.*186T>C;NT_004610.19:g.13918238A>G 81339738 7504 Cor18507_SNV_20070510.chr1_26922292 4.85e-01 2007.11.29 2007.11.29 2000.09.19 2011.10.06 132 HUMANGENOME_JCVI 8431 NM_021969.2:c.*186T>C;NG_012143.1:g.7418T>C;NM_021969.2:c.*186T>C;NT_004610.19:g.13918238A>G 97927089 7504 1103675053031 4.85e-01 2008.03.30 2008.03.30 2000.09.19 2011.10.06 132 ILLUMINA 8431 NM_021969.2:c.*186T>C;NG_012143.1:g.7418T>C;NM_021969.2:c.*186T>C;NT_004610.19:g.13918238A>G 65747540 7504 Human1-rs7504 4.85e-01 2006.10.10 2006.10.10 2000.09.19 2011.10.06 132 ILLUMINA 8431 NM_021969.2:c.*186T>C;NG_012143.1:g.7418T>C;NM_021969.2:c.*186T>C;NT_004610.19:g.13918238A>G 74861276 7504 ILMN_Human_1M_rs7504 4.85e-01 2007.08.29 2007.08.29 2000.09.19 2011.10.06 132 ILLUMINA 8431 NM_021969.2:c.*186T>C;NG_012143.1:g.7418T>C;NM_021969.2:c.*186T>C;NT_004610.19:g.13918238A>G 160882514 7504 HumanOmni1-Quad_v1-0_B_rs7504-128_B_R_1513910904 4.85e-01 2009.08.07 2009.10.04 2000.09.19 2011.10.06 132 ILLUMINA 8431 NM_021969.2:c.*186T>C;NG_012143.1:g.7418T>C;NM_021969.2:c.*186T>C;NT_004610.19:g.13918238A>G 174387934 7504 Human1M-Duov3_B_rs7504-128_B_R_1513910904 4.85e-01 2009.10.04 2009.10.04 2000.09.19 2011.10.06 132 ILLUMINA-UK 8431 NM_021969.2:c.*186T>C;NG_012143.1:g.7418T>C;NM_021969.2:c.*186T>C;NT_004610.19:g.13918238A>G 118579737 7504 NA18507_000032998_NCBI36.1_chr1_27110737 4.85e-01 2009.01.21 2009.01.21 2000.09.19 2011.10.06 132 KRIBB_YJKIM 8431 NM_021969.2:c.*186T>C;NG_012143.1:g.7418T>C;NM_021969.2:c.*186T>C;NT_004610.19:g.13918238A>G 119338096 7504 KHS1500343 4.85e-01 2009.02.04 2009.02.04 2000.09.19 2011.10.06 132 KWOK 8431 NM_021969.2:c.*186T>C;NG_012143.1:g.7418T>C;NM_021969.2:c.*186T>C;NT_004610.19:g.13918238A>G 1665754 7504 OVLP-000925-52161 4.85e-01 2000.10.05 2004.05.16 2000.09.19 2011.10.06 132 LEE 8431 NM_021969.2:c.*186T>C;NG_012143.1:g.7418T>C;NM_021969.2:c.*186T>C;NT_004610.19:g.13918238A>G 1513916 7504 128747 4.85e-01 2000.09.13 2003.10.10 2000.09.19 2011.10.06 132 LEE 8431 NM_021969.2:c.*186T>C;NG_012143.1:g.7418T>C;NM_021969.2:c.*186T>C;NT_004610.19:g.13918238A>G 4391626 7504 ge128747 4.85e-01 2002.04.25 2003.10.10 2000.09.19 2011.10.06 132 LEE 8431 NM_021969.2:c.*186T>C;NG_012143.1:g.7418T>C;NM_021969.2:c.*186T>C;NT_004610.19:g.13918238A>G 4407063 7504 e128747 4.85e-01 2002.04.26 2003.10.10 2000.09.19 2011.10.06 132 PJP 8431 NM_021969.2:c.*186T>C;NG_012143.1:g.7418T>C;NM_021969.2:c.*186T>C;NT_004610.19:g.13918238A>G 290794710 7504 SNP_301068_chr1_27110737 4.85e-01 2011.01.21 2011.01.21 2000.09.19 2011.10.06 132 SC_JCM 8431 NM_021969.2:c.*186T>C;NG_012143.1:g.7418T>C;NM_021969.2:c.*186T>C;NT_004610.19:g.13918238A>G 2620829 7504 AL356390.5_59096 4.85e-01 2000.11.03 2003.10.10 2000.09.19 2011.10.06 132 SI_EXO 8431 NM_021969.2:c.*186T>C;NG_012143.1:g.7418T>C;NM_021969.2:c.*186T>C;NT_004610.19:g.13918238A>G 76892993 7504 NT_004610.18_10062492 4.85e-01 2007.09.20 2007.09.20 2000.09.19 2011.10.06 132 SSAHASNP 8431 NM_021969.2:c.*186T>C;NG_012143.1:g.7418T>C;NM_021969.2:c.*186T>C;NT_004610.19:g.13918238A>G 20451984 7504 WGSA-200403-chr1.chr1.NT_037485.3_1349359 4.85e-01 2004.03.18 2004.03.18 2000.09.19 2011.10.06 132 1000GENOMES 8431 453945603 188607614 20101123_snps_112833_chr1_27238157 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 8431 328491592 139665461 20100804_snps_135128_chr1_27238176 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 ABI 8431 NM_021969.2:c.*151_*152insC;NG_012143.1:g.7383_7384insC;NM_021969.2:c.*151_*152insG;NT_004610.19:g.13918272_13918273insG 41091885 34977368 hCV32755183 2005.07.17 2005.07.17 2006.03.14 2011.07.08 132 LI_WANG 8431 NM_021969.2:c.*102C>G;NG_012143.1:g.7334C>G;NM_021969.2:c.*102C>G;NT_004610.19:g.13918322G>C 142101877 75933395 HshpEXON2 3UTR101 2009.05.26 2009.05.26 2009.12.01 2011.07.08 132 1000GENOMES 8431 NM_021969.2:c.*101C>G;NG_012143.1:g.7333C>G;NM_021969.2:c.*101C>G;NT_004610.19:g.13918323G>C 218294390 41303639 pilot_1_YRI_104073_chr1_27110822 4.89e-02 2010.04.22 2010.04.22 2006.10.18 2011.09.09 132 BUSHMAN 8431 NM_021969.2:c.*101C>G;NG_012143.1:g.7333C>G;NM_021969.2:c.*101C>G;NT_004610.19:g.13918323G>C 198205402 41303639 BUSHMAN-chr1-27110821 4.89e-02 2010.03.06 2010.03.06 2006.10.18 2011.09.09 132 SI_EXO 8431 NM_021969.2:c.*101C>G;NG_012143.1:g.7333C>G;NM_021969.2:c.*101C>G;NT_004610.19:g.13918323G>C 52066393 41303639 NT_037485.3_1349444 4.89e-02 2006.03.29 2006.03.29 2006.10.18 2011.09.09 132 1000GENOMES 8431 453945604 191837512 20101123_snps_112834_chr1_27238240 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 NHLBI-ESP 8431 341947692 143756034 ESP2500-chr1-27238388 2011.03.25 2011.03.25 2011.05.09 2011.07.08 132 NHLBI-ESP 8431 341947695 150069435 ESP2500-chr1-27238438 2011.03.25 2011.03.25 2011.05.09 2011.07.08 132 NHLBI-ESP 8431 341947696 145183788 ESP2500-chr1-27238478 2011.03.25 2011.03.25 2011.05.09 2011.07.08 132 NHLBI-ESP 8431 341947698 146555254 ESP2500-chr1-27238493 2011.03.25 2011.03.25 2011.05.09 2011.07.08 132 OMICIA 8431 NC_000001.9:g.27111114C>A NM_021969.2:c.583G>T;NG_012143.1:g.7041G>T;NP_068804.1:p.Ala195Ser;NM_021969.2:c.583G>T;NT_004610.19:g.13918615C>A;NP_068804.1:p.Ala195Ser 179320195 74315350 2009_August_001_203_NR0B2_604630_0002 Germline probable-pathogenic 2009.11.05 2009.11.05 2009.11.05 2011.09.09 132 OMIM-CURATED-RECORDS 8431 NP_068804.1:p.ALA195SER NM_021969.2:c.583G>T;NG_012143.1:g.7041G>T;NP_068804.1:p.Ala195Ser;NM_021969.2:c.583G>T;NT_004610.19:g.13918615C>A;NP_068804.1:p.Ala195Ser 254230275 74315350 12776 Germline probable-pathogenic 2010.08.19 2010.08.19 2009.11.05 2011.09.09 132 NHLBI-ESP 8431 341947701 146974913 ESP2500-chr1-27238537 2011.03.25 2011.03.25 2011.05.09 2011.07.08 132 LI_WANG 8431 NM_021969.2:c.533-60T>A;NG_012143.1:g.6931T>A;NM_021969.2:c.533-60T>A;NT_004610.19:g.13918725A>T 142101881 75239741 Hshp INTRON 1265 2009.05.26 2009.05.26 2009.12.01 2011.07.08 132 1000GENOMES 8431 NM_021969.2:c.533-112G>A;NG_012143.1:g.6879G>A;NM_021969.2:c.533-112G>A;NT_004610.19:g.13918777C>T 230470032 41303641 pilot_1_CEU_74661_chr1_27111276 3.20e-02 2010.05.01 2010.05.01 2006.10.18 2011.07.08 132 SI_EXO 8431 NM_021969.2:c.533-112G>A;NG_012143.1:g.6879G>A;NM_021969.2:c.533-112G>A;NT_004610.19:g.13918777C>T 52066394 41303641 NT_037485.3_1349898 3.20e-02 2006.03.29 2006.03.29 2006.10.18 2011.07.08 132 1000GENOMES 8431 NM_021969.2:c.533-154A>C;NG_012143.1:g.6837A>C;NM_021969.2:c.533-154A>C;NT_004610.19:g.13918819T>G 218294391 111945539 pilot_1_YRI_104074_chr1_27111318 2.29e-03 2010.04.22 2010.04.22 2010.07.04 2011.09.09 132 BUSHMAN 8431 NM_021969.2:c.533-154A>C;NG_012143.1:g.6837A>C;NM_021969.2:c.533-154A>C;NT_004610.19:g.13918819T>G 198205408 111945539 BUSHMAN-chr1-27111317 2.29e-03 2010.03.06 2010.03.06 2010.07.04 2011.09.09 132 1000GENOMES 8431 NM_021969.2:c.533-294T>G;NG_012143.1:g.6697T>G;NM_021969.2:c.533-294T>G;NT_004610.19:g.13918959A>C 210492138 41291051 YRI.trio.3.2010_14804_chr1_27111458 1.21e-01 2010.03.29 2010.03.29 2006.10.18 2011.09.09 132 1000GENOMES 8431 NM_021969.2:c.533-294T>G;NG_012143.1:g.6697T>G;NM_021969.2:c.533-294T>G;NT_004610.19:g.13918959A>C 218294392 41291051 pilot_1_YRI_104075_chr1_27111458 1.21e-01 2010.04.22 2010.04.22 2006.10.18 2011.09.09 132 1000GENOMES 8431 NM_021969.2:c.533-294T>G;NG_012143.1:g.6697T>G;NM_021969.2:c.533-294T>G;NT_004610.19:g.13918959A>C 230470033 41291051 pilot_1_CEU_74662_chr1_27111458 1.21e-01 2010.05.01 2010.05.01 2006.10.18 2011.09.09 132 1000GENOMES 8431 NM_021969.2:c.533-294T>G;NG_012143.1:g.6697T>G;NM_021969.2:c.533-294T>G;NT_004610.19:g.13918959A>C 238175850 41291051 pilot_1_CHB+JPT_60927_chr1_27111458 1.21e-01 2010.05.01 2010.05.01 2006.10.18 2011.09.09 132 BCMHGSC_JDW 8431 NM_021969.2:c.533-294T>G;NG_012143.1:g.6697T>G;NM_021969.2:c.533-294T>G;NT_004610.19:g.13918959A>C 87317797 41291051 JWB-0027046 1.21e-01 2008.02.26 2008.02.26 2006.10.18 2011.09.09 132 COMPLETE_GENOMICS 8431 NM_021969.2:c.533-294T>G;NG_012143.1:g.6697T>G;NM_021969.2:c.533-294T>G;NT_004610.19:g.13918959A>C 164012547 41291051 NA07022_36_chr1_27111458 1.21e-01 2009.09.29 2009.09.29 2006.10.18 2011.09.09 132 COMPLETE_GENOMICS 8431 NM_021969.2:c.533-294T>G;NG_012143.1:g.6697T>G;NM_021969.2:c.533-294T>G;NT_004610.19:g.13918959A>C 166274840 41291051 NA20431_36_chr1_27111458 1.21e-01 2009.09.30 2009.09.30 2006.10.18 2011.09.09 132 ENSEMBL 8431 NM_021969.2:c.533-294T>G;NG_012143.1:g.6697T>G;NM_021969.2:c.533-294T>G;NT_004610.19:g.13918959A>C 137856727 41291051 ENSSNP5604592 1.21e-01 2009.05.16 2009.05.16 2006.10.18 2011.09.09 132 SI_EXO 8431 NM_021969.2:c.533-294T>G;NG_012143.1:g.6697T>G;NM_021969.2:c.533-294T>G;NT_004610.19:g.13918959A>C 52066395 41291051 NT_037485.3_1350080 1.21e-01 2006.03.29 2006.03.29 2006.10.18 2011.09.09 132 1000GENOMES 8431 NM_021969.2:c.533-399G>A;NG_012143.1:g.6592G>A;NM_021969.2:c.533-399G>A;NT_004610.19:g.13919064C>T 238175851 75299081 pilot_1_CHB+JPT_60928_chr1_27111563 8.68e-03 2010.05.01 2010.05.01 2009.12.01 2011.07.08 132 1000GENOMES 8431 328491593 142599798 20100804_snps_135129_chr1_27239041 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 8431 453945605 183909337 20101123_snps_112835_chr1_27239144 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 8431 453945606 190183214 20101123_snps_112836_chr1_27239202 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 8431 453945607 181815411 20101123_snps_112837_chr1_27239316 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 ABI 8431 NM_021969.2:c.532+583G>A;NG_012143.1:g.6251G>A;NM_021969.2:c.532+583G>A;NT_004610.19:g.13919405C>T 41293043 35509269 hCV32755181 2005.07.17 2005.07.17 2006.03.15 2011.09.09 132 ENSEMBL 8431 NM_021969.2:c.532+583G>A;NG_012143.1:g.6251G>A;NM_021969.2:c.532+583G>A;NT_004610.19:g.13919405C>T 161242730 35509269 ENSSNP203874 2009.09.24 2009.09.24 2006.03.15 2011.09.09 132 ILLUMINA 8431 NM_021969.2:c.532+583G>A;NG_012143.1:g.6251G>A;NM_021969.2:c.532+583G>A;NT_004610.19:g.13919405C>T 74993284 35509269 ILMN_Human_1M_rs35509269 2007.08.29 2007.08.29 2006.03.15 2011.09.09 132 ILLUMINA 8431 NM_021969.2:c.532+583G>A;NG_012143.1:g.6251G>A;NM_021969.2:c.532+583G>A;NT_004610.19:g.13919405C>T 173601568 35509269 Human1M-Duov3_B_rs35509269-128_T_R_1513975450 2009.10.04 2009.10.04 2006.03.15 2011.09.09 132 KRIBB_YJKIM 8431 NM_021969.2:c.532+583G>A;NG_012143.1:g.6251G>A;NM_021969.2:c.532+583G>A;NT_004610.19:g.13919405C>T 119917101 35509269 KHS1916739 2009.02.05 2009.02.05 2006.03.15 2011.09.09 132 1000GENOMES 8431 453945608 187186495 20101123_snps_112838_chr1_27239511 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 NHLBI-ESP 8431 341947702 148040321 ESP2500-chr1-27239901 2011.03.25 2011.03.25 2011.05.09 2011.07.08 132 1000GENOMES 8431 NM_021969.2:c.512G>C;NG_012143.1:g.5648G>C;NP_068804.1:p.Gly171Ala;NM_021969.2:c.512G>C;NT_004610.19:g.13920008C>G;NP_068804.1:p.Gly171Ala 218294393 6659176 pilot_1_YRI_104076_chr1_27112507 4.80e-02 2010.04.22 2010.04.22 2003.07.11 2011.09.09 132 1000GENOMES 8431 NM_021969.2:c.512G>C;NG_012143.1:g.5648G>C;NP_068804.1:p.Gly171Ala;NM_021969.2:c.512G>C;NT_004610.19:g.13920008C>G;NP_068804.1:p.Gly171Ala 230470035 6659176 pilot_1_CEU_74664_chr1_27112507 4.80e-02 2010.05.01 2010.05.01 2003.07.11 2011.09.09 132 BCM_SSAHASNP 8431 NM_021969.2:c.512G>C;NG_012143.1:g.5648G>C;NP_068804.1:p.Gly171Ala;NM_021969.2:c.512G>C;NT_004610.19:g.13920008C>G;NP_068804.1:p.Gly171Ala 9813867 6659176 chr1.NT_037485.3_1351129 4.80e-02 2003.06.27 2006.10.25 2003.07.11 2011.09.09 132 CANCER-GENOME 8431 NM_021969.2:c.512G>C;NG_012143.1:g.5648G>C;NP_068804.1:p.Gly171Ala;NM_021969.2:c.512G>C;NT_004610.19:g.13920008C>G;NP_068804.1:p.Gly171Ala 86341901 6659176 14215 4.80e-02 2008.01.25 2008.01.25 2003.07.11 2011.09.09 132 ENSEMBL 8431 NM_021969.2:c.512G>C;NG_012143.1:g.5648G>C;NP_068804.1:p.Gly171Ala;NM_021969.2:c.512G>C;NT_004610.19:g.13920008C>G;NP_068804.1:p.Gly171Ala 144027372 6659176 ENSSNP5494275 4.80e-02 2009.06.06 2009.10.17 2003.07.11 2011.09.09 132 HUMANGENOME_JCVI 8431 NM_021969.2:c.512G>C;NG_012143.1:g.5648G>C;NP_068804.1:p.Gly171Ala;NM_021969.2:c.512G>C;NT_004610.19:g.13920008C>G;NP_068804.1:p.Gly171Ala 99195910 6659176 1103675053028 4.80e-02 2008.04.03 2008.04.03 2003.07.11 2011.09.09 132 ILLUMINA 8431 NM_021969.2:c.512G>C;NG_012143.1:g.5648G>C;NP_068804.1:p.Gly171Ala;NM_021969.2:c.512G>C;NT_004610.19:g.13920008C>G;NP_068804.1:p.Gly171Ala 74863438 6659176 ILMN_Human_1M_rs6659176 4.80e-02 2007.08.29 2007.08.29 2003.07.11 2011.09.09 132 ILLUMINA 8431 NM_021969.2:c.512G>C;NG_012143.1:g.5648G>C;NP_068804.1:p.Gly171Ala;NM_021969.2:c.512G>C;NT_004610.19:g.13920008C>G;NP_068804.1:p.Gly171Ala 160794956 6659176 HumanOmni1-Quad_v1-0_B_rs6659176-128_T_R_1513908025 4.80e-02 2009.08.07 2009.10.04 2003.07.11 2011.09.09 132 ILLUMINA 8431 NM_021969.2:c.512G>C;NG_012143.1:g.5648G>C;NP_068804.1:p.Gly171Ala;NM_021969.2:c.512G>C;NT_004610.19:g.13920008C>G;NP_068804.1:p.Gly171Ala 174058527 6659176 Human1M-Duov3_B_rs6659176-128_T_R_1513908025 4.80e-02 2009.10.04 2009.10.04 2003.07.11 2011.09.09 132 LI_WANG 8431 NM_021969.2:c.512G>C;NG_012143.1:g.5648G>C;NP_068804.1:p.Gly171Ala;NM_021969.2:c.512G>C;NT_004610.19:g.13920008C>G;NP_068804.1:p.Gly171Ala 142101875 6659176 HshpEXON1 TSS+512 4.80e-02 2009.05.26 2009.05.26 2003.07.11 2011.09.09 132 NHLBI-ESP 8431 NM_021969.2:c.512G>C;NG_012143.1:g.5648G>C;NP_068804.1:p.Gly171Ala;NM_021969.2:c.512G>C;NT_004610.19:g.13920008C>G;NP_068804.1:p.Gly171Ala 341947705 6659176 ESP2500-chr1-27239920 4.80e-02 2011.03.25 2011.03.25 2003.07.11 2011.09.09 132 PERLEGEN 8431 NM_021969.2:c.512G>C;NG_012143.1:g.5648G>C;NP_068804.1:p.Gly171Ala;NM_021969.2:c.512G>C;NT_004610.19:g.13920008C>G;NP_068804.1:p.Gly171Ala 68761980 6659176 PGP04783764 4.80e-02 2007.01.30 2008.03.31 2003.07.11 2011.09.09 132 PJP 8431 NM_021969.2:c.512G>C;NG_012143.1:g.5648G>C;NP_068804.1:p.Gly171Ala;NM_021969.2:c.512G>C;NT_004610.19:g.13920008C>G;NP_068804.1:p.Gly171Ala 290794711 6659176 SNP_301069_chr1_27112507 4.80e-02 2011.01.21 2011.01.21 2003.07.11 2011.09.09 132 SEATTLESEQ 8431 NM_021969.2:c.512G>C;NG_012143.1:g.5648G>C;NP_068804.1:p.Gly171Ala;NM_021969.2:c.512G>C;NT_004610.19:g.13920008C>G;NP_068804.1:p.Gly171Ala 159696827 6659176 NR0B2-27112507 4.80e-02 2009.07.10 2009.07.10 2003.07.11 2011.09.09 132 LI_WANG 8431 142101873 78728223 HshpEXON1 TSS+510 2009.05.26 2009.05.26 2009.12.01 2011.07.08 132 1000GENOMES 8431 328491594 151014108 20100804_snps_135130_chr1_27239959 2011.03.22 2011.03.22 2011.05.09 2011.07.08 132 NHLBI-ESP 8431 341947707 151014108 ESP2500-chr1-27239959 2011.03.25 2011.03.25 2011.05.09 2011.07.08 132 NHLBI-ESP 8431 341947708 139159423 ESP2500-chr1-27239982 2011.03.25 2011.03.25 2011.05.09 2011.07.08 132 NHLBI-ESP 8431 341947711 148569409 ESP2500-chr1-27239997 2011.03.25 2011.03.25 2011.05.09 2011.07.08 132 NHLBI-ESP 8431 341947712 142971644 ESP2500-chr1-27240053 2011.03.25 2011.03.25 2011.05.09 2011.07.08 132 NHLBI-ESP 8431 341947715 144579036 ESP2500-chr1-27240080 2011.03.25 2011.03.25 2011.05.09 2011.07.08 132 NHLBI-ESP 8431 341947716 147881053 ESP2500-chr1-27240082 2011.03.25 2011.03.25 2011.05.09 2011.07.08 132 1000GENOMES 8431 328491595 140901243 20100804_snps_135131_chr1_27240089 2011.03.22 2011.03.22 2011.05.09 2011.07.08 132 NHLBI-ESP 8431 341947718 140901243 ESP2500-chr1-27240089 2011.03.25 2011.03.25 2011.05.09 2011.07.08 132 NHLBI-ESP 8431 341947721 143133224 ESP2500-chr1-27240093 2011.03.25 2011.03.25 2011.05.09 2011.07.08 132 1000GENOMES 8431 453945609 190513279 20101123_snps_112839_chr1_27240099 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 NHLBI-ESP 8431 341947723 141864635 ESP2500-chr1-27240139 2011.03.25 2011.03.25 2011.05.09 2011.07.08 132 1000GENOMES 8431 328491596 150160927 20100804_snps_135132_chr1_27240167 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 ABI 8431 NM_021969.2:c.179_180insC;NT_004610.19:g.13920340_13920341insC;NM_021969.2:c.179_180insG;NG_012143.1:g.5315_5316insG 41065718 34082206 hCV32755180 2005.07.17 2005.07.17 2006.03.13 2011.07.08 132 NHLBI-ESP 8431 341947725 137897173 ESP2500-chr1-27240262 2011.03.25 2011.03.25 2011.05.09 2011.07.08 132 COMPLETE_GENOMICS 8431 NM_021969.2:c.160C>T;NG_012143.1:g.5296C>T;NP_068804.1:p.Arg54Cys;NM_021969.2:c.160C>T;NT_004610.19:g.13920360G>A;NP_068804.1:p.Arg54Cys 166274851 113654931 NA20431_36_chr1_27112859 2009.09.30 2009.09.30 2010.07.04 2011.09.09 132 NHLBI-ESP 8431 341947727 150546920 ESP2500-chr1-27240298 2011.03.25 2011.03.25 2011.05.09 2011.07.08 132 LI_WANG 8431 NM_021969.2:c.113G>A;NG_012143.1:g.5249G>A;NP_068804.1:p.Arg38His;NM_021969.2:c.113G>A;NT_004610.19:g.13920407C>T;NP_068804.1:p.Arg38His 142101870 75738889 hSHPEXON1 TSS+113 2009.05.26 2009.05.26 2009.12.01 2011.07.08 132 NHLBI-ESP 8431 341947729 149602490 ESP2500-chr1-27240320 2011.03.25 2011.03.25 2011.05.09 2011.07.08 132 NHLBI-ESP 8431 NM_021969.2:c.100C>T;NG_012143.1:g.5236C>T;NP_068804.1:p.Arg34X;NM_021969.2:c.100C>T;NT_004610.19:g.13920420G>A;NP_068804.1:p.Arg34X 341947731 74315349 ESP2500-chr1-27240332 Germline probable-pathogenic 2011.03.25 2011.03.25 2009.11.05 2011.07.08 132 OMICIA 8431 NC_000001.9:g.27112919G>A NM_021969.2:c.100C>T;NG_012143.1:g.5236C>T;NP_068804.1:p.Arg34X;NM_021969.2:c.100C>T;NT_004610.19:g.13920420G>A;NP_068804.1:p.Arg34X 179320194 74315349 2009_August_001_202_NR0B2_604630_0001 Germline probable-pathogenic 2009.11.05 2009.11.05 2009.11.05 2011.07.08 132 OMIM-CURATED-RECORDS 8431 NP_068804.1:p.ARG34TER NM_021969.2:c.100C>T;NG_012143.1:g.5236C>T;NP_068804.1:p.Arg34X;NM_021969.2:c.100C>T;NT_004610.19:g.13920420G>A;NP_068804.1:p.Arg34X 254230271 74315349 12775 Germline probable-pathogenic 2010.08.19 2010.08.19 2009.11.05 2011.07.08 132 1000GENOMES 8431 453945610 147871331 20101123_snps_112840_chr1_27240419 2011.07.20 2011.07.20 2011.05.09 2011.10.06 132 NHLBI-ESP 8431 341947733 147871331 ESP2500-chr1-27240419 2011.03.25 2011.03.25 2011.05.09 2011.10.06 132 1000GENOMES 8431 453945611 185436052 20101123_snps_112841_chr1_27240479 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 HGSV 8431 NM_021969.2:c.-73C>T;NG_012143.1:g.5064C>T;NM_021969.2:c.-73C>T;NT_004610.19:g.13920592G>A 81714608 57049081 Cor18956_SNV_20070510.chr1_26924646 2007.12.01 2007.12.01 2007.12.14 2011.07.08 132 1000GENOMES 8431 NT_004610.19:g.13920723G>A 218294394 115656060 pilot_1_YRI_104077_chr1_27113222 6.86e-03 2010.04.22 2010.04.22 2010.07.14 2011.09.09 132 1000GENOMES 8431 326017135 145613139 CEU_chr1_27113238_indel 2011.03.11 2011.04.01 2011.05.09 2011.09.09 132 CSHL-HAPMAP 8431 NG_012143.1:g.4878G>A;NT_004610.19:g.13920778C>T 19853482 12565886 CSHL-HuFF-200402.chr1.NT_037485.3_1351899 2004.02.21 2004.03.04 2004.02.28 2011.09.09 132 ILLUMINA 8431 NG_012143.1:g.4878G>A;NT_004610.19:g.13920778C>T 75012028 12565886 ILMN_Human_1M_rs12565886 2007.08.29 2007.08.29 2004.02.28 2011.09.09 132 ILLUMINA 8431 NG_012143.1:g.4878G>A;NT_004610.19:g.13920778C>T 172159050 12565886 Human1M-Duov3_B_rs12565886-128_T_R_1513960807 2009.10.02 2009.10.02 2004.02.28 2011.09.09 132 KRIBB_YJKIM 8431 NG_012143.1:g.4878G>A;NT_004610.19:g.13920778C>T 119793898 12565886 KHS1848445 2009.02.05 2009.02.05 2004.02.28 2011.09.09 132 1000GENOMES 8431 NG_012143.1:g.4714C>T;NT_004610.19:g.13920942G>A 230470036 78182695 pilot_1_CEU_74665_chr1_27113441 5.48e-03 2010.05.01 2010.05.01 2009.12.01 2011.07.08 132 LI_WANG 8431 NG_012143.1:g.4714C>T;NT_004610.19:g.13920942G>A 142101883 78182695 Hshp promotor -423 5.48e-03 2009.05.26 2009.05.26 2009.12.01 2011.07.08 132 1000GENOMES 8431 328491597 146800969 20100804_snps_135133_chr1_27240871 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 8431 453945612 189758103 20101123_snps_112842_chr1_27240984 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 8431 NG_012143.1:g.4543T>C;NT_004610.19:g.13921113A>G 218294395 71636795 pilot_1_YRI_104078_chr1_27113612 1.25e-01 2010.04.22 2010.04.22 2009.02.13 2011.09.09 132 1000GENOMES 8431 NG_012143.1:g.4543T>C;NT_004610.19:g.13921113A>G 230470037 71636795 pilot_1_CEU_74666_chr1_27113612 1.25e-01 2010.05.01 2010.05.01 2009.02.13 2011.09.09 132 1000GENOMES 8431 NG_012143.1:g.4543T>C;NT_004610.19:g.13921113A>G 238175852 71636795 pilot_1_CHB+JPT_60929_chr1_27113612 1.25e-01 2010.05.01 2010.05.01 2009.02.13 2011.09.09 132 BUSHMAN 8431 NG_012143.1:g.4543T>C;NT_004610.19:g.13921113A>G 198205412 71636795 BUSHMAN-chr1-27113611 1.25e-01 2010.03.06 2010.03.06 2009.02.13 2011.09.09 132 HUMANGENOME_JCVI 8431 NG_012143.1:g.4543T>C;NT_004610.19:g.13921113A>G 99195911 71636795 1103675053030 1.25e-01 2008.04.03 2008.04.03 2009.02.13 2011.09.09 132 ILLUMINA-UK 8431 NG_012143.1:g.4543T>C;NT_004610.19:g.13921113A>G 118579741 71636795 NA18507_000032999_NCBI36.1_chr1_27113612 1.25e-01 2009.01.21 2009.01.21 2009.02.13 2011.09.09 132 1000GENOMES 8431 NG_012143.1:g.4361G>A;NT_004610.19:g.13921295C>T 328491598 112083739 20100804_snps_135134_chr1_27241207 4.57e-04 2011.03.22 2011.03.22 2010.07.04 2011.09.09 132 COMPLETE_GENOMICS 8431 NG_012143.1:g.4361G>A;NT_004610.19:g.13921295C>T 164012557 112083739 NA07022_36_chr1_27113794 4.57e-04 2009.09.29 2009.09.29 2010.07.04 2011.09.09 132 1000GENOMES 8431 453945613 182837020 20101123_snps_112843_chr1_27241313 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 8431 453945614 186486816 20101123_snps_112844_chr1_27241315 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 BUSHMAN 8431 NG_012143.1:g.4241T>C;NT_004610.19:g.13921415A>G 198205417 112256582 BUSHMAN-chr1-27113913 1.83e-03 2010.03.06 2010.03.06 2010.07.04 2011.09.09 132 1000GENOMES 8431 328491599 145696809 20100804_snps_135135_chr1_27241368 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 ABI 8431 NG_012143.1:g.4132_4133insC;NT_004610.19:g.13921523_13921524insG 41110363 35332813 hCV32755179 2005.07.17 2005.07.17 2006.03.15 2011.07.08 132 1000GENOMES 8431 326017057 143973030 JPTCHB_chr1_27114053_indel 2011.03.11 2011.04.01 2011.05.09 2011.09.09 132 1000GENOMES 8431 NG_012143.1:g.4096_4101del6;NT_004610.19:g.13921555_13921560del6 326017138 112140740 CEU_chr1_27114053_indel 2011.03.11 2011.04.01 2010.07.04 2011.10.06 132 1000GENOMES 8431 326022213 143973030 YRI_chr1_27114053_indel 2011.03.11 2011.04.01 2011.05.09 2011.09.09 132 BUSHMAN 8431 NG_012143.1:g.4096_4101del6;NT_004610.19:g.13921555_13921560del6 193093561 112140740 BUSHMAN-chr1-27114053-27114059 2010.02.16 2010.02.16 2010.07.04 2011.10.06 132 DEVINE_LAB 8431 NG_012143.1:g.4082_4093del12;NT_004610.19:g.13921563_13921574del12 99418255 67079523 INDEL_GP36_2007a_575046_0 2008.05.05 2008.05.05 2009.02.05 2011.07.08 132 DEVINE_LAB 8431 NG_012143.1:g.4082_4093del12;NT_004610.19:g.13921563_13921574del12 101222293 67079523 INDEL_GP36_2008a_575046_1 2008.05.17 2008.05.17 2009.02.05 2011.07.08 132 DEVINE_LAB 8431 NG_012143.1:g.4072_4083del12;NT_004610.19:g.13921573_13921584del12 50212361 35090073 INDEL_GP35_WGS_448681 2006.01.24 2006.01.24 2006.03.14 2011.07.08 132 DEVINE_LAB 8431 NG_012143.1:g.4072_4083del12;NT_004610.19:g.13921573_13921584del12 102159494 35090073 INDEL_GP36_2008a_1595384_0 2008.05.18 2008.05.18 2006.03.14 2011.07.08 132 DEVINE_LAB 8431 NG_012143.1:g.4071_4082del12;NT_004610.19:g.13921574_13921585del12 14999040 11278695 INDEL_GP34_WGS_80392 2003.11.13 2003.11.22 2004.02.28 2011.07.08 132 DEVINE_LAB 8431 NG_012143.1:g.4069_4080del12;NT_004610.19:g.13921576_13921587del12 99313806 67405203 INDEL_GP36_2007a_120664_0 2008.05.04 2008.05.04 2009.02.05 2011.07.08 132 DEVINE_LAB 8431 NG_012143.1:g.4069_4080del12;NT_004610.19:g.13921576_13921587del12 100050321 67405203 INDEL_GP36_2008a_120664_1 2008.05.16 2008.05.16 2009.02.05 2011.07.08 132 DEVINE_LAB 8431 14999739 11278723 INDEL_GP34_WGS_81127 2003.11.13 2003.11.22 2004.02.28 2011.07.08 132 SC_SNP 8431 18086825 11278723 SC-CHR1_NA11321-200402.chr1.NT_037485.3_1352699 2004.02.20 2004.03.04 2004.02.28 2011.07.08 132 SSAHASNP 8431 35153428 11278723 TA-079.chr1_26925632 2005.03.11 2004.02.28 2011.07.08 132 DEVINE_LAB 8431 NG_012143.1:g.4069_4074del6;NT_004610.19:g.13921582_13921587del6 100180393 71848906 INDEL_GP36_2008a_1889315_0 2008.05.16 2008.05.16 2009.02.13 2011.07.08 132 1000GENOMES 8431 NG_012143.1:g.4072C>A;NT_004610.19:g.13921584G>T 328491600 28495965 20100804_snps_135136_chr1_27241496 1.39e-01 2011.03.22 2011.03.22 2005.05.24 2011.09.09 132 ENSEMBL 8431 NG_012143.1:g.4072C>A;NT_004610.19:g.13921584G>T 131778136 28495965 ENSSNP203875 1.39e-01 2009.05.11 2009.10.14 2005.05.24 2011.09.09 132 SSAHASNP 8431 NG_012143.1:g.4072C>A;NT_004610.19:g.13921584G>T 35244790 28495965 TA-079.chr1_26925638 1.39e-01 2005.03.11 2005.05.24 2011.09.09 132 SSAHASNP 8431 NG_012143.1:g.4070T>C;NT_004610.19:g.13921586A>G 35093875 28375733 TA-079.chr1_26925640 2005.03.11 2005.05.24 2011.07.08 132 HGSV 8431 80890335 57409245 Cor12878_DIV_20070510.chr1_26925643-26925650_1 2007.11.27 2007.11.27 2007.12.14 2011.07.08 132 SSAHASNP 8431 NG_012143.1:g.4066C>A;NT_004610.19:g.13921590G>T 20479117 12732978 WGSA-200403-chr1.chr1.NT_037485.3_1352711 2004.03.18 2004.03.18 2004.04.05 2011.09.02 132 SC_SNP 8431 NG_012143.1:g.4064T>C;NT_004610.19:g.13921592A>G 18080677 12027292 SC-CHR1_NA11321-200402.chr1.NT_037485.3_1352713 2004.02.20 2004.03.04 2004.02.28 2011.07.08 132 DEVINE_LAB 8431 NG_012143.1:g.4049_4060del12;NT_004610.19:g.13921596_13921607del12 99583367 71007902 INDEL_GP36_2007a_916378_0 2008.05.05 2008.05.05 2009.02.13 2011.07.08 132 HUMANGENOME_JCVI 8431 NG_012143.1:g.4049_4060del12;NT_004610.19:g.13921596_13921607del12 95224733 71007902 1104685346386 2008.03.21 2008.12.02 2009.02.13 2011.07.08 132 SSAHASNP 8431 NG_012143.1:g.4060A>C;NT_004610.19:g.13921596T>G 20599067 12758117 WGSA-200403-chr1.chr1.NT_037485.3_1352717 2004.03.18 2004.03.18 2004.04.05 2011.09.09 132 SSAHASNP 8431 NG_012143.1:g.4054C>T;NT_004610.19:g.13921602G>A 35460580 28674646 TA-079.chr1_26925656 2005.03.11 2005.05.24 2011.07.08 132 SSAHASNP 8431 NG_012143.1:g.4052T>C;NT_004610.19:g.13921604A>G 20579506 12754020 WGSA-200403-chr1.chr1.NT_037485.3_1352725 2004.03.18 2004.03.18 2004.04.05 2011.07.08 132 SSAHASNP 8431 NG_012143.1:g.4046C>T;NT_004610.19:g.13921610G>A 20479166 12732992 WGSA-200403-chr1.chr1.NT_037485.3_1352731 2004.03.18 2004.03.18 2004.04.05 2011.07.08 132 SSAHASNP 8431 NG_012143.1:g.4039A>G;NT_004610.19:g.13921617T>C 20599109 12758127 WGSA-200403-chr1.chr1.NT_037485.3_1352738 2004.03.18 2004.03.18 2004.04.05 2011.07.08 132 SSAHASNP 8431 NG_012143.1:g.4037A>G;NT_004610.19:g.13921619T>C 20599133 12758131 WGSA-200403-chr1.chr1.NT_037485.3_1352740 2004.03.18 2004.03.18 2004.04.05 2011.07.08 132 BUSHMAN 8431 NG_012143.1:g.4033G>A;NT_004610.19:g.13921623C>T 198205422 28403032 BUSHMAN-chr1-27114121 2010.03.06 2010.03.06 2005.05.24 2011.09.09 132 SSAHASNP 8431 NG_012143.1:g.4033G>A;NT_004610.19:g.13921623C>T 35136396 28403032 TA-079.chr1_26925677 2005.03.11 2005.05.24 2011.09.09 132 BUSHMAN 8431 NG_012143.1:g.4031G>A;NT_004610.19:g.13921625C>T 198205427 113232671 BUSHMAN-chr1-27114123 2010.03.06 2010.03.06 2010.07.04 2011.09.09 132 SSAHASNP 8431 NG_012143.1:g.4027G>A;NT_004610.19:g.13921629C>T 35294792 28549681 TA-079.chr1_26925683 2005.03.11 2005.05.24 2011.07.08 132 ENSEMBL 8431 NG_012143.1:g.4019G>A;NT_004610.19:g.13921637C>T 138988007 12734250 ENSSNP203876 3.98e-02 2009.05.18 2009.10.16 2004.04.05 2011.09.09 132 SSAHASNP 8431 NG_012143.1:g.4019G>A;NT_004610.19:g.13921637C>T 20484894 12734250 WGSA-200403-chr1.chr1.NT_037485.3_1352758 3.98e-02 2004.03.18 2004.03.18 2004.04.05 2011.09.09 132 DEVINE_LAB 8431 NG_012143.1:g.4017_4018ins4;NT_004610.19:g.13921638_13921639ins4 101186667 67296768 INDEL_GP36_2008a_1595385_0 2008.05.17 2008.05.17 2009.02.05 2011.07.08 132 DEVINE_LAB 8431 NG_012143.1:g.4017_4018ins4;NT_004610.19:g.13921638_13921639ins4 101186672 67296768 INDEL_GP36_2008a_1595385_1 2008.05.17 2008.05.17 2009.02.05 2011.07.08 132 1000GENOMES 8431 453945615 191613295 20101123_snps_112845_chr1_27241553 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 HUMANGENOME_JCVI 8431 NG_012143.1:g.4012_4013ins4;NT_004610.19:g.13921643_13921644ins4 95224734 71010303 1104685346387 2008.03.21 2008.12.02 2009.02.13 2011.07.08 132 SSAHASNP 8431 NG_012143.1:g.4008T>C;NT_004610.19:g.13921648A>G 35107896 28407523 TA-079.chr1_26925702 2005.03.11 2005.05.24 2011.07.08 132 ILLUMINA 8431 NG_012143.1:g.4002T>C;NT_004610.19:g.13921654A>G 75011927 12754045 ILMN_Human_1M_rs12754045 2007.08.29 2007.08.29 2004.04.05 2011.09.09 132 ILLUMINA 8431 NG_012143.1:g.4002T>C;NT_004610.19:g.13921654A>G 172239527 12754045 Human1M-Duov3_B_rs12754045-128_B_R_1513961642 2009.10.02 2009.10.02 2004.04.05 2011.09.09 132 KRIBB_YJKIM 8431 NG_012143.1:g.4002T>C;NT_004610.19:g.13921654A>G 119809742 12754045 KHS1854859 2009.02.05 2009.02.05 2004.04.05 2011.09.09 132 SSAHASNP 8431 NG_012143.1:g.4002T>C;NT_004610.19:g.13921654A>G 20579623 12754045 WGSA-200403-chr1.chr1.NT_037485.3_1352775 2004.03.18 2004.03.18 2004.04.05 2011.09.09 132 DEVINE_LAB 8431 NG_012143.1:g.3999_4000ins4;NT_004610.19:g.13921656_13921657ins4 101013733 67605403 INDEL_GP36_2008a_2894406_0 2008.05.17 2008.05.17 2009.02.06 2011.07.08 132 DEVINE_LAB 8431 NG_012143.1:g.3999_4000ins4;NT_004610.19:g.13921656_13921657ins4 101013737 67605403 INDEL_GP36_2008a_2894406_1 2008.05.17 2008.05.17 2009.02.06 2011.07.08 132 SSAHASNP 8431 NG_012143.1:g.4000C>T;NT_004610.19:g.13921656G>A 20479261 12733016 WGSA-200403-chr1.chr1.NT_037485.3_1352777 2004.03.18 2004.03.18 2004.04.05 2011.07.08 132 1000GENOMES 8431 328491604 141602364 20100804_snps_135140_chr1_27241874 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 8431 453945616 183479806 20101123_snps_112846_chr1_27241907 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 8431 NG_012143.1:g.3616C>T;NT_004610.19:g.13922040G>A 210448497 75374511 CEU.trio.3.2010_2024_chr1_27114539 5.39e-02 2010.03.29 2010.03.29 2009.12.01 2011.07.08 132 1000GENOMES 8431 NG_012143.1:g.3616C>T;NT_004610.19:g.13922040G>A 230470038 75374511 pilot_1_CEU_74667_chr1_27114539 5.39e-02 2010.05.01 2010.05.01 2009.12.01 2011.07.08 132 1000GENOMES 8431 NG_012143.1:g.3559C>T;NT_004610.19:g.13922097G>A 108078115 11581460 CEU.trio.12.15.2008_35056_chr1_27114596 1.99e-01 2008.12.15 2008.12.15 2004.02.28 2011.09.09 132 1000GENOMES 8431 NG_012143.1:g.3559C>T;NT_004610.19:g.13922097G>A 218294396 11581460 pilot_1_YRI_104079_chr1_27114596 1.99e-01 2010.04.22 2010.04.22 2004.02.28 2011.09.09 132 1000GENOMES 8431 NG_012143.1:g.3559C>T;NT_004610.19:g.13922097G>A 230470039 11581460 pilot_1_CEU_74668_chr1_27114596 1.99e-01 2010.05.01 2010.05.01 2004.02.28 2011.09.09 132 ABI 8431 NG_012143.1:g.3559C>T;NT_004610.19:g.13922097G>A 43978573 11581460 hCV1246376 1.99e-01 2005.07.18 2006.11.03 2004.02.28 2011.09.09 132 AFFY 8431 NG_012143.1:g.3559C>T;NT_004610.19:g.13922097G>A 66323048 11581460 SNP_A-1902278 1.99e-01 2006.10.29 2008.03.31 2004.02.28 2011.09.09 132 AFFY 8431 NG_012143.1:g.3559C>T;NT_004610.19:g.13922097G>A 76013474 11581460 AFFY_6_1M_SNP_A-1902278 1.99e-01 2007.08.29 2010.03.07 2004.02.28 2011.09.09 132 AFFY 8431 NG_012143.1:g.3559C>T;NT_004610.19:g.13922097G>A 170410283 11581460 GenomeWideSNP_5_SNP_A-1902278 1.99e-01 2009.10.01 2009.10.02 2004.02.28 2011.09.09 132 BCM-HGSC-SUB 8431 NG_012143.1:g.3559C>T;NT_004610.19:g.13922097G>A 205440677 11581460 BCM_CMT_1011-199361 1.99e-01 2010.03.16 2010.03.16 2004.02.28 2011.09.09 132 BUSHMAN 8431 NG_012143.1:g.3559C>T;NT_004610.19:g.13922097G>A 198205432 11581460 BUSHMAN-chr1-27114595 1.99e-01 2010.03.06 2010.03.06 2004.02.28 2011.09.09 132 CSHL-HAPMAP 8431 NG_012143.1:g.3559C>T;NT_004610.19:g.13922097G>A 16411424 11581460 CSHL-HuAA-200402.chr1.NT_037485.3_1353218 1.99e-01 2004.02.17 2006.10.26 2004.02.28 2011.09.09 132 ENSEMBL 8431 NG_012143.1:g.3559C>T;NT_004610.19:g.13922097G>A 131778139 11581460 ENSSNP203878 1.99e-01 2009.05.11 2010.03.07 2004.02.28 2011.09.09 132 HUMANGENOME_JCVI 8431 NG_012143.1:g.3559C>T;NT_004610.19:g.13922097G>A 99195912 11581460 1103675053032 1.99e-01 2008.04.03 2008.04.03 2004.02.28 2011.09.09 132 ILLUMINA 8431 NG_012143.1:g.3559C>T;NT_004610.19:g.13922097G>A 75181218 11581460 ILMN_Human_1M_rs11581460 1.99e-01 2007.08.29 2007.08.29 2004.02.28 2011.09.09 132 ILLUMINA 8431 NG_012143.1:g.3559C>T;NT_004610.19:g.13922097G>A 159982566 11581460 HumanOmni1-Quad_v1-0_B_rs11581460-128_T_F_1514127670 1.99e-01 2009.08.04 2009.10.01 2004.02.28 2011.09.09 132 ILLUMINA 8431 NG_012143.1:g.3559C>T;NT_004610.19:g.13922097G>A 171310339 11581460 Human1M-Duov3_B_rs11581460-128_T_F_1514127670 1.99e-01 2009.10.01 2009.10.01 2004.02.28 2011.09.09 132 KRIBB_YJKIM 8431 NG_012143.1:g.3559C>T;NT_004610.19:g.13922097G>A 82890695 11581460 KHS348304 1.99e-01 2007.12.03 2007.12.03 2004.02.28 2011.09.09 132 PJP 8431 NG_012143.1:g.3559C>T;NT_004610.19:g.13922097G>A 290794712 11581460 SNP_301070_chr1_27114596 1.99e-01 2011.01.21 2011.01.21 2004.02.28 2011.09.09 132 SSAHASNP 8431 NG_012143.1:g.3559C>T;NT_004610.19:g.13922097G>A 20501012 11581460 WGSA-200403-chr1.chr1.NT_037485.3_1353218 1.99e-01 2004.03.18 2004.03.18 2004.02.28 2011.09.09 132 1000GENOMES 8431 328491605 147534355 20100804_snps_135141_chr1_27242242 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 8431 NG_012143.1:g.3047A>C;NT_004610.19:g.13922609T>G 218294397 75305560 pilot_1_YRI_104080_chr1_27115108 1.24e-01 2010.04.22 2010.04.22 2009.12.01 2011.09.09 132 1000GENOMES 8431 NG_012143.1:g.3047A>C;NT_004610.19:g.13922609T>G 230470040 75305560 pilot_1_CEU_74669_chr1_27115108 1.24e-01 2010.05.01 2010.05.01 2009.12.01 2011.09.09 132 1000GENOMES 8431 NG_012143.1:g.3047A>C;NT_004610.19:g.13922609T>G 238175853 75305560 pilot_1_CHB+JPT_60930_chr1_27115108 1.24e-01 2010.05.01 2010.05.01 2009.12.01 2011.09.09 132 BUSHMAN 8431 NG_012143.1:g.3047A>C;NT_004610.19:g.13922609T>G 198205437 75305560 BUSHMAN-chr1-27115107 1.24e-01 2010.03.06 2010.03.06 2009.12.01 2011.09.09 132 ILLUMINA-UK 8431 NG_012143.1:g.3047A>C;NT_004610.19:g.13922609T>G 118579746 75305560 NA18507_000033000_NCBI36.1_chr1_27115108 1.24e-01 2009.01.21 2009.01.21 2009.12.01 2011.09.09 132 # Report date: 2012.1.24, Gene: NR0B2 (8431), ss count: 214, rs count: 102.