# 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 HGBASE 6736 NM_003140.1:c.465C>T;NG_011751.1:g.5613C>T;NM_003140.1:c.465C>T;NT_011896.9:g.5660G>A 16383858 11575897 SNP001493946 2004.02.17 2004.03.04 2004.02.28 2011.12.15 132 ILLUMINA 6736 NM_003140.1:c.465C>T;NG_011751.1:g.5613C>T;NM_003140.1:c.465C>T;NT_011896.9:g.5660G>A 74991997 11575897 ILMN_Human_1M_rs11575897 2007.08.29 2007.08.29 2004.02.28 2011.12.15 132 ILLUMINA 6736 NM_003140.1:c.465C>T;NG_011751.1:g.5613C>T;NM_003140.1:c.465C>T;NT_011896.9:g.5660G>A 159981903 11575897 HumanOmni1-Quad_v1-0_B_rs11575897-128_T_R_1513956358 2009.08.04 2009.10.01 2004.02.28 2011.12.15 132 ILLUMINA 6736 NM_003140.1:c.465C>T;NG_011751.1:g.5613C>T;NM_003140.1:c.465C>T;NT_011896.9:g.5660G>A 171304249 11575897 Human1M-Duov3_B_rs11575897-127_T_R_1513956358 2009.10.01 2009.10.01 2004.02.28 2011.12.15 132 ILLUMINA 6736 NM_003140.1:c.465C>T;NG_011751.1:g.5613C>T;NM_003140.1:c.465C>T;NT_011896.9:g.5660G>A 410893589 11575897 Cardio-Metabo_Chip_11395247_A_rs11575897 2011.06.07 2011.06.07 2004.02.28 2011.12.15 132 PAGE 6736 NM_003140.1:c.465C>T;NG_011751.1:g.5613C>T;NM_003140.1:c.465C>T;NT_011896.9:g.5660G>A 50392534 11575897 S00063 2006.01.25 2006.01.25 2004.02.28 2011.12.15 132 OMICIA 6736 NC_000024.8:g.2715248G>A NM_003140.1:c.397C>T;NG_011751.1:g.5545C>T;NP_003131.1:p.Arg133Trp;NM_003140.1:c.397C>T;NT_011896.9:g.5728G>A;NP_003131.1:p.Arg133Trp 244240095 104894976 2010_April_001_015_SRY_480000_0019 probable-pathogenic 2010.05.27 2010.05.28 2010.05.28 2011.09.09 132 OMIM-CURATED-RECORDS 6736 NP_003131.1:p.ARG133TRP NM_003140.1:c.397C>T;NG_011751.1:g.5545C>T;NP_003131.1:p.Arg133Trp;NM_003140.1:c.397C>T;NT_011896.9:g.5728G>A;NP_003131.1:p.Arg133Trp 342562758 104894976 8624 probable-pathogenic 2011.03.29 2011.03.29 2010.05.28 2011.09.09 132 OMICIA 6736 NC_000024.8:g.2715265T>A NM_003140.1:c.380A>T;NG_011751.1:g.5528A>T;NP_003131.1:p.Tyr127Phe;NM_003140.1:c.380A>T;NT_011896.9:g.5745T>A;NP_003131.1:p.Tyr127Phe 244240092 104894973 2010_April_001_019_SRY_480000_0023 probable-pathogenic 2010.05.27 2010.05.28 2010.05.28 2011.09.09 132 OMIM-CURATED-RECORDS 6736 NP_003131.1:p.TYR127PHE NM_003140.1:c.380A>T;NG_011751.1:g.5528A>T;NP_003131.1:p.Tyr127Phe;NM_003140.1:c.380A>T;NT_011896.9:g.5745T>A;NP_003131.1:p.Tyr127Phe 342562762 104894973 8628 probable-pathogenic 2011.03.29 2011.03.29 2010.05.28 2011.09.09 132 OMICIA 6736 NC_000024.8:g.2715308C>T NM_003140.1:c.337G>A;NG_011751.1:g.5485G>A;NP_003131.1:p.Ala113Thr;NM_003140.1:c.337G>A;NT_011896.9:g.5788C>T;NP_003131.1:p.Ala113Thr 244240085 104894966 2010_April_001_007_SRY_480000_0009 probable-pathogenic 2010.05.27 2010.05.28 2010.05.28 2011.09.09 132 OMIM-CURATED-RECORDS 6736 NP_003131.1:p.ALA113THR NM_003140.1:c.337G>A;NG_011751.1:g.5485G>A;NP_003131.1:p.Ala113Thr;NM_003140.1:c.337G>A;NT_011896.9:g.5788C>T;NP_003131.1:p.Ala113Thr 342562750 104894966 8614 probable-pathogenic 2011.03.29 2011.03.29 2010.05.28 2011.09.09 132 OMICIA 6736 NC_000024.8:g.2715319A>G NM_003140.1:c.326T>C;NG_011751.1:g.5474T>C;NP_003131.1:p.Phe109Ser;NM_003140.1:c.326T>C;NT_011896.9:g.5799A>G;NP_003131.1:p.Phe109Ser 244240075 104894956 2010_April_001_002_SRY_480000_0003 probable-pathogenic 2010.05.27 2010.05.28 2010.05.28 2011.09.09 132 OMIM-CURATED-RECORDS 6736 NP_003131.1:p.PHE109SER NM_003140.1:c.326T>C;NG_011751.1:g.5474T>C;NP_003131.1:p.Phe109Ser;NM_003140.1:c.326T>C;NT_011896.9:g.5799A>G;NP_003131.1:p.Phe109Ser 342562745 104894956 8608 probable-pathogenic 2011.03.29 2011.03.29 2010.05.28 2011.09.09 132 OMICIA 6736 NC_000024.8:g.2715325C>T NM_003140.1:c.320G>A;NG_011751.1:g.5468G>A;NP_003131.1:p.Trp107X;NM_003140.1:c.320G>A;NT_011896.9:g.5805C>T;NP_003131.1:p.Trp107X 244240086 104894967 2010_April_001_008_SRY_480000_0010 probable-pathogenic 2010.05.27 2010.05.28 2010.05.28 2011.09.09 132 OMIM-CURATED-RECORDS 6736 NM_003140.1:c.320G>A NM_003140.1:c.320G>A;NG_011751.1:g.5468G>A;NP_003131.1:p.Trp107X;NM_003140.1:c.320G>A;NT_011896.9:g.5805C>T;NP_003131.1:p.Trp107X 342562751 104894967 8615 probable-pathogenic 2011.03.29 2011.03.29 2010.05.28 2011.09.09 132 OMICIA 6736 NC_000024.8:g.2715328T>A NM_003140.1:c.317A>T;NG_011751.1:g.5465A>T;NP_003131.1:p.Lys106Ile;NM_003140.1:c.317A>T;NT_011896.9:g.5808T>A;NP_003131.1:p.Lys106Ile 244240083 104894964 2010_April_001_006_SRY_480000_0007 probable-pathogenic 2010.05.27 2010.05.28 2010.05.28 2011.09.09 132 OMIM-CURATED-RECORDS 6736 NP_003131.1:p.LYS106ILE NM_003140.1:c.317A>T;NG_011751.1:g.5465A>T;NP_003131.1:p.Lys106Ile;NM_003140.1:c.317A>T;NT_011896.9:g.5808T>A;NP_003131.1:p.Lys106Ile 342562749 104894964 8612 probable-pathogenic 2011.03.29 2011.03.29 2010.05.28 2011.09.09 132 OMICIA 6736 NC_000024.8:g.2715361C>T NM_003140.1:c.284G>A;NG_011751.1:g.5432G>A;NP_003131.1:p.Gly95Glu;NM_003140.1:c.284G>A;NT_011896.9:g.5841C>T;NP_003131.1:p.Gly95Glu 244240091 104894972 2010_April_001_018_SRY_480000_0022 probable-pathogenic 2010.05.27 2010.05.28 2010.05.28 2011.09.09 132 OMIM-CURATED-RECORDS 6736 NP_003131.1:p.GLY95GLU NM_003140.1:c.284G>A;NG_011751.1:g.5432G>A;NP_003131.1:p.Gly95Glu;NM_003140.1:c.284G>A;NT_011896.9:g.5841C>T;NP_003131.1:p.Gly95Glu 342562761 104894972 8627 probable-pathogenic 2011.03.29 2011.03.29 2010.05.28 2011.09.09 132 OMICIA 6736 NC_000024.8:g.2715362C>G NM_003140.1:c.283G>C;NG_011751.1:g.5431G>C;NP_003131.1:p.Gly95Arg;NM_003140.1:c.283G>C;NT_011896.9:g.5842C>G;NP_003131.1:p.Gly95Arg 244240093 104894974 2010_April_001_013_SRY_480000_0016 probable-pathogenic 2010.05.27 2010.05.28 2010.05.28 2011.09.09 132 OMIM-CURATED-RECORDS 6736 NM_003140.1:c.283G>C NM_003140.1:c.283G>C;NG_011751.1:g.5431G>C;NP_003131.1:p.Gly95Arg;NM_003140.1:c.283G>C;NT_011896.9:g.5842C>G;NP_003131.1:p.Gly95Arg 342562756 104894974 8621 probable-pathogenic 2011.03.29 2011.03.29 2010.05.28 2011.09.09 132 OMICIA 6736 NC_000024.8:g.2715368G>A NM_003140.1:c.277C>T;NG_011751.1:g.5425C>T;NP_003131.1:p.Gln93X;NM_003140.1:c.277C>T;NT_011896.9:g.5848G>A;NP_003131.1:p.Gln93X 244240077 104894958 2010_April_001_004_SRY_480000_0005 probable-pathogenic 2010.05.27 2010.05.28 2010.05.28 2011.09.09 132 OMIM-CURATED-RECORDS 6736 NP_003131.1:p.GLN93TER NM_003140.1:c.277C>T;NG_011751.1:g.5425C>T;NP_003131.1:p.Gln93X;NM_003140.1:c.277C>T;NT_011896.9:g.5848G>A;NP_003131.1:p.Gln93X 342562747 104894958 8610 probable-pathogenic 2011.03.29 2011.03.29 2010.05.28 2011.09.09 132 OMICIA 6736 NC_000024.8:g.2715371T>A NM_003140.1:c.274A>T;NG_011751.1:g.5422A>T;NP_003131.1:p.Lys92X;NM_003140.1:c.274A>T;NT_011896.9:g.5851T>A;NP_003131.1:p.Lys92X 244240089 104894970 2010_April_001_012_SRY_480000_0015 probable-pathogenic 2010.05.27 2010.05.28 2010.05.28 2011.09.09 132 OMIM-CURATED-RECORDS 6736 NP_003131.1:p.LYS92TER NM_003140.1:c.274A>T;NG_011751.1:g.5422A>T;NP_003131.1:p.Lys92X;NM_003140.1:c.274A>T;NT_011896.9:g.5851T>A;NP_003131.1:p.Lys92X 342562755 104894970 8620 probable-pathogenic 2011.03.29 2011.03.29 2010.05.28 2011.09.09 132 OMICIA 6736 NC_000024.8:g.2715375G>C NM_003140.1:c.270C>G;NG_011751.1:g.5418C>G;NP_003131.1:p.Ile90Met;NM_003140.1:c.270C>G;NT_011896.9:g.5855G>C;NP_003131.1:p.Ile90Met 244240078 104894959 2010_April_001_005_SRY_480000_0006 probable-pathogenic 2010.05.27 2010.05.28 2010.05.28 2011.09.09 132 OMIM-CURATED-RECORDS 6736 NP_003131.1:p.ILE90MET NM_003140.1:c.270C>G;NG_011751.1:g.5418C>G;NP_003131.1:p.Ile90Met;NM_003140.1:c.270C>G;NT_011896.9:g.5855G>C;NP_003131.1:p.Ile90Met 342562748 104894959 8611 probable-pathogenic 2011.03.29 2011.03.29 2010.05.28 2011.09.09 132 OMICIA 6736 NC_000024.8:g.2715436C>T NM_003140.1:c.209G>A;NG_011751.1:g.5357G>A;NP_003131.1:p.Trp70X;NM_003140.1:c.209G>A;NT_011896.9:g.5916C>T;NP_003131.1:p.Trp70X 244240084 104894965 2010_April_001_011_SRY_480000_0013 probable-pathogenic 2010.05.27 2010.05.28 2010.05.28 2011.09.09 132 OMIM-CURATED-RECORDS 6736 NM_003140.1:c.209G>A NM_003140.1:c.209G>A;NG_011751.1:g.5357G>A;NP_003131.1:p.Trp70X;NM_003140.1:c.209G>A;NT_011896.9:g.5916C>T;NP_003131.1:p.Trp70X 342562754 104894965 8618 probable-pathogenic 2011.03.29 2011.03.29 2010.05.28 2011.09.09 132 OMICIA 6736 NC_000024.8:g.2715442A>G NM_003140.1:c.203T>C;NG_011751.1:g.5351T>C;NP_003131.1:p.Ile68Thr;NM_003140.1:c.203T>C;NT_011896.9:g.5922A>G;NP_003131.1:p.Ile68Thr 244240087 104894968 2010_April_001_009_SRY_480000_0011 probable-pathogenic 2010.05.27 2010.05.28 2010.05.28 2011.09.09 132 OMIM-CURATED-RECORDS 6736 NP_003131.1:p.ILE68THR NM_003140.1:c.203T>C;NG_011751.1:g.5351T>C;NP_003131.1:p.Ile68Thr;NM_003140.1:c.203T>C;NT_011896.9:g.5922A>G;NP_003131.1:p.Ile68Thr 342562752 104894968 8616 probable-pathogenic 2011.03.29 2011.03.29 2010.05.28 2011.09.09 132 OMICIA 6736 NC_000024.8:g.2715453C>T NM_003140.1:c.192G>A;NG_011751.1:g.5340G>A;NP_003131.1:p.Met64Ile;NM_003140.1:c.192G>A;NT_011896.9:g.5933C>T;NP_003131.1:p.Met64Ile 244240088 104894969 2010_April_001_010_SRY_480000_0012 probable-pathogenic 2010.05.27 2010.05.28 2010.05.28 2011.09.09 132 OMIM-CURATED-RECORDS 6736 NM_003140.1:c.192G>A NM_003140.1:c.192G>A;NG_011751.1:g.5340G>A;NP_003131.1:p.Met64Ile;NM_003140.1:c.192G>A;NT_011896.9:g.5933C>T;NP_003131.1:p.Met64Ile 342562753 104894969 8617 probable-pathogenic 2011.03.29 2011.03.29 2010.05.28 2011.09.09 132 OMICIA 6736 NC_000024.8:g.2715467C>G NM_003140.1:c.178G>C;NG_011751.1:g.5326G>C;NP_003131.1:p.Val60Leu;NM_003140.1:c.178G>C;NT_011896.9:g.5947C>G;NP_003131.1:p.Val60Leu 244240076 104894957 2010_April_001_003_SRY_480000_0004 probable-pathogenic 2010.05.27 2010.05.28 2010.05.28 2011.09.09 132 OMIM-CURATED-RECORDS 6736 NM_003140.1:c.178G>C NM_003140.1:c.178G>C;NG_011751.1:g.5326G>C;NP_003131.1:p.Val60Leu;NM_003140.1:c.178G>C;NT_011896.9:g.5947C>G;NP_003131.1:p.Val60Leu 342562746 104894957 8609 probable-pathogenic 2011.03.29 2011.03.29 2010.05.28 2011.09.09 132 OMICIA 6736 NC_000024.8:g.2715592C>T NM_003140.1:c.53G>A;NG_011751.1:g.5201G>A;NP_003131.1:p.Ser18Asn;NM_003140.1:c.53G>A;NT_011896.9:g.6072C>T;NP_003131.1:p.Ser18Asn 244240090 104894971 2010_April_001_017_SRY_480000_0021 probable-pathogenic 2010.05.27 2010.05.28 2010.05.28 2011.09.09 132 OMIM-CURATED-RECORDS 6736 NP_003131.1:p.SER18ASN NM_003140.1:c.53G>A;NG_011751.1:g.5201G>A;NP_003131.1:p.Ser18Asn;NM_003140.1:c.53G>A;NT_011896.9:g.6072C>T;NP_003131.1:p.Ser18Asn 342562760 104894971 8626 probable-pathogenic 2011.03.29 2011.03.29 2010.05.28 2011.09.09 132 OMICIA 6736 NC_000024.8:g.2715633A>T NM_003140.1:c.12T>A;NG_011751.1:g.5160T>A;NP_003131.1:p.Tyr4X;NM_003140.1:c.12T>A;NT_011896.9:g.6113A>T;NP_003131.1:p.Tyr4X 244240094 104894975 2010_April_001_014_SRY_480000_0018 probable-pathogenic 2010.05.27 2010.05.28 2010.05.28 2011.09.09 132 OMIM-CURATED-RECORDS 6736 NM_003140.1:c.12T>A NM_003140.1:c.12T>A;NG_011751.1:g.5160T>A;NP_003131.1:p.Tyr4X;NM_003140.1:c.12T>A;NT_011896.9:g.6113A>T;NP_003131.1:p.Tyr4X 342562757 104894975 8623 probable-pathogenic 2011.03.29 2011.03.29 2010.05.28 2011.09.09 132 OMICIA 6736 NC_000024.8:g.2715641G>A NM_003140.1:c.4C>T;NG_011751.1:g.5152C>T;NP_003131.1:p.Gln2X;NM_003140.1:c.4C>T;NT_011896.9:g.6121G>A;NP_003131.1:p.Gln2X 244240096 104894977 2010_April_001_016_SRY_480000_0020 probable-pathogenic 2010.05.27 2010.05.28 2010.05.28 2011.09.09 132 OMIM-CURATED-RECORDS 6736 NP_003131.1:p.GLN2TER NM_003140.1:c.4C>T;NG_011751.1:g.5152C>T;NP_003131.1:p.Gln2X;NM_003140.1:c.4C>T;NT_011896.9:g.6121G>A;NP_003131.1:p.Gln2X 342562759 104894977 8625 probable-pathogenic 2011.03.29 2011.03.29 2010.05.28 2011.09.09 132 BCM-HGSC-SUB 6736 NG_011751.1:g.3617G>A;NT_011896.9:g.7656C>T 208951932 2534636 BCM_CMT_1011-3407367 2010.03.20 2010.03.20 2001.09.28 2011.09.09 132 ILLUMINA 6736 NG_011751.1:g.3617G>A;NT_011896.9:g.7656C>T 75150466 2534636 ILMN_Human_1M_rs2534636 2007.08.29 2007.08.29 2001.09.28 2011.09.09 132 ILLUMINA 6736 NG_011751.1:g.3617G>A;NT_011896.9:g.7656C>T 160556944 2534636 HumanOmni1-Quad_v1-0_B_rs2534636-128_T_R_1514097810 2009.08.06 2009.10.03 2001.09.28 2011.09.09 132 ILLUMINA 6736 NG_011751.1:g.3617G>A;NT_011896.9:g.7656C>T 173383791 2534636 Human1M-Duov3_B_rs2534636-127_T_R_1514097810 2009.10.03 2009.10.03 2001.09.28 2011.09.09 132 PAGE 6736 NG_011751.1:g.3617G>A;NT_011896.9:g.7656C>T 50392536 2534636 S00065 2006.01.25 2006.11.03 2001.09.28 2011.09.09 132 PERLEGEN 6736 NG_011751.1:g.3617G>A;NT_011896.9:g.7656C>T 24726333 2534636 afd4382624 2004.08.21 2004.09.13 2001.09.28 2011.09.09 132 PERLEGEN 6736 NG_011751.1:g.3617G>A;NT_011896.9:g.7656C>T 69277862 2534636 PGP04382624 2007.01.30 2007.01.30 2001.09.28 2011.09.09 132 SC_JCM 6736 NG_011751.1:g.3617G>A;NT_011896.9:g.7656C>T 3552977 2534636 AC006040.3_64927 2001.09.24 2006.10.25 2001.09.28 2011.09.09 132 BUSHMAN 6736 NG_011751.1:g.3382C>T;NT_011896.9:g.7891G>A 204405154 113717750 BUSHMAN-chrY-2717410 2010.03.10 2010.03.10 2010.07.04 2011.07.08 132 # Report date: 2012.1.24, Gene: SRY (6736), ss count: 51, rs count: 21.