# 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 80347 NC_000017.10:g.40717083A>G;NM_001042529.2:c.1302+18A>G;NM_001042532.3:c.1389+18A>G;NM_025233.6:c.1302+18A>G 339697399 147880619 20100804_snps_11340940_chr17_40717083 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 80347 NC_000017.10:g.40717083A>G;NM_001042529.2:c.1302+18A>G;NM_001042532.3:c.1389+18A>G;NM_025233.6:c.1302+18A>G 491124201 147880619 20110521_exome_631999_chr17_40717083 5.00e-04 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 1000GENOMES 80347 NC_000017.10:g.40717098G>A;NM_001042529.2:c.1302+33G>A;NM_001042532.3:c.1389+33G>A;NM_025233.6:c.1302+33G>A 464920914 184601988 20101123_snps_11088144_chr17_40717098 1.80e-03 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 80347 NC_000017.10:g.40717098G>A;NM_001042529.2:c.1302+33G>A;NM_001042532.3:c.1389+33G>A;NM_025233.6:c.1302+33G>A 491124202 184601988 20110521_exome_632000_chr17_40717098 1.80e-03 2012.02.22 2012.02.22 2011.09.17 2012.11.28 137 1000GENOMES 80347 NC_000017.10:g.40717140C>T;NM_001042529.2:c.1302+75C>T;NM_001042532.3:c.1389+75C>T;NM_025233.6:c.1302+75C>T 227548784 114439049 pilot_1_YRI_9358467_chr17_37970666 1.33e-02 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 1000GENOMES 80347 NC_000017.10:g.40717159C>G;NM_001042529.2:c.1303-86C>G;NM_001042532.3:c.1390-86C>G;NM_025233.6:c.1303-86C>G 227548785 77883531 pilot_1_YRI_9358468_chr17_37970685 3.53e-02 2010.04.22 2010.04.22 2009.12.01 2011.07.08 137 1000GENOMES 80347 NC_000017.10:g.40717223T>C;NM_001042529.2:c.1303-22T>C;NM_001042532.3:c.1390-22T>C;NM_025233.6:c.1303-22T>C 489111973 199822609 20110521_exome_229488_chr17_40717223 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 CLINSEQ_SNP 80347 NC_000017.10:g.40717223T>C;NM_001042529.2:c.1303-22T>C;NM_001042532.3:c.1390-22T>C;NM_025233.6:c.1303-22T>C 491737072 199822609 SNV-chr17-37970749 5.00e-04 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 1000GENOMES 80347 NC_000017.10:g.40717265G>A;NM_001042529.2:c.1323G>A;NM_001042532.3:c.1410G>A;NM_025233.6:c.1323G>A;NP_001035994.1:p.Thr441=;NP_001035997.2:p.Thr470=;NP_079509.5:p.Thr441= 489111975 202081974 20110521_exome_229489_chr17_40717265 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 1000GENOMES 80347 NC_000017.10:g.40717273T>G;NM_001042529.2:c.1331T>G;NM_001042532.3:c.1418T>G;NM_025233.6:c.1331T>G;NP_001035994.1:p.Met444Arg;NP_001035997.2:p.Met473Arg;NP_079509.5:p.Met444Arg 489111977 200908147 20110521_exome_229490_chr17_40717273 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 EXOME_CHIP 80347 NC_000017.10:g.40717277G>C;NM_001042529.2:c.1335G>C;NM_001042532.3:c.1422G>C;NM_025233.6:c.1335G>C;NP_001035994.1:p.Trp445Cys;NP_001035997.2:p.Trp474Cys;NP_079509.5:p.Trp445Cys 491522776 199953631 nonsyn_239002_chr_17_40717277 2012.03.05 2012.03.05 2012.05.04 2012.05.04 137 1000GENOMES 80347 NC_000017.10:g.40717299C>G;NM_001042529.2:c.1357C>G;NM_001042532.3:c.1444C>G;NM_025233.6:c.1357C>G;NP_001035994.1:p.Arg453Gly;NP_001035997.2:p.Arg482Gly;NP_079509.5:p.Arg453Gly 489111979 200491699 20110521_exome_229491_chr17_40717299 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 NHLBI-ESP 80347 NC_000017.10:g.40717315G>C;NM_001042529.2:c.1373G>C;NM_001042532.3:c.1460G>C;NM_025233.6:c.1373G>C;NP_001035994.1:p.Arg458Pro;NP_001035997.2:p.Arg487Pro;NP_079509.5:p.Arg458Pro 342454746 141320026 ESP2500-chr17-40717315 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 1000GENOMES 80347 NC_000017.10:g.40717336G>T;NM_001042529.2:c.1387+7G>T;NM_001042532.3:c.1474+7G>T;NM_025233.6:c.1387+7G>T 489111981 199787345 20110521_exome_229492_chr17_40717336 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 1000GENOMES 80347 NC_000017.10:g.40717466C>T;NM_001042529.2:c.1388-23C>T;NM_001042532.3:c.1475-23C>T;NM_025233.6:c.1388-23C>T 339697400 141500308 20100804_snps_11340941_chr17_40717466 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 80347 NC_000017.10:g.40717466C>T;NM_001042529.2:c.1388-23C>T;NM_001042532.3:c.1475-23C>T;NM_025233.6:c.1388-23C>T 491124203 141500308 20110521_exome_632001_chr17_40717466 5.00e-04 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 BUSHMAN 80347 NC_000017.10:g.40717467G>A;NM_001042529.2:c.1388-22G>A;NM_001042532.3:c.1475-22G>A;NM_025233.6:c.1388-22G>A 202518343 113657484 BUSHMAN-chr17-37970992 2010.03.08 2010.03.08 2010.07.04 2011.09.09 137 NHLBI-ESP 80347 NC_000017.10:g.40717487A>G;NM_001042529.2:c.1388-2A>G;NM_001042532.3:c.1475-2A>G;NM_025233.6:c.1388-2A>G 342454747 145108650 ESP2500-chr17-40717487 9.00e-04 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 1000GENOMES 80347 NC_000017.10:g.40717487A>G;NM_001042529.2:c.1388-2A>G;NM_001042532.3:c.1475-2A>G;NM_025233.6:c.1388-2A>G 489111983 145108650 20110521_exome_229493_chr17_40717487 9.00e-04 2012.02.13 2012.02.13 2011.05.09 2012.11.28 137 EXOME_CHIP 80347 NC_000017.10:g.40717487A>G;NM_001042529.2:c.1388-2A>G;NM_001042532.3:c.1475-2A>G;NM_025233.6:c.1388-2A>G 491522777 145108650 splice_239003_chr_17_40717487 9.00e-04 2012.03.05 2012.03.05 2011.05.09 2012.11.28 137 NHLBI-ESP 80347 NC_000017.10:g.40717494C>T;NM_001042529.2:c.1393C>T;NM_001042532.3:c.1480C>T;NM_025233.6:c.1393C>T;NP_001035994.1:p.Arg465Cys;NP_001035997.2:p.Arg494Cys;NP_079509.5:p.Arg465Cys 342454748 146857074 ESP2500-chr17-40717494 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 1000GENOMES 80347 NC_000017.10:g.40717496T>C;NM_001042529.2:c.1395T>C;NM_001042532.3:c.1482T>C;NM_025233.6:c.1395T>C;NP_001035994.1:p.Arg465=;NP_001035997.2:p.Arg494=;NP_079509.5:p.Arg465= 489111985 200715008 20110521_exome_229494_chr17_40717496 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 ABI 80347 NC_000017.10:g.40717510_40717511insA;NM_001042529.2:c.1409_1410insA;NM_001042532.3:c.1496_1497insA;NM_025233.6:c.1409_1410insA;NP_001035994.1:p.Asp470delinsGluCysfs;NP_001035997.2:p.Asp499delinsGluCysfs;NP_079509.5:p.Asp470delinsGluCysfs 40814616 35524476 hCV32953168 2005.07.17 2005.07.17 2006.03.15 2011.07.08 137 1000GENOMES 80347 NC_000017.10:g.40717525T>G;NM_001042529.2:c.1424T>G;NM_001042532.3:c.1511T>G;NM_025233.6:c.1424T>G;NP_001035994.1:p.Leu475Arg;NP_001035997.2:p.Leu504Arg;NP_079509.5:p.Leu475Arg 339697401 145349142 20100804_snps_11340942_chr17_40717525 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 80347 NC_000017.10:g.40717525T>G;NM_001042529.2:c.1424T>G;NM_001042532.3:c.1511T>G;NM_025233.6:c.1424T>G;NP_001035994.1:p.Leu475Arg;NP_001035997.2:p.Leu504Arg;NP_079509.5:p.Leu475Arg 491124204 145349142 20110521_exome_632002_chr17_40717525 5.00e-04 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 ILLUMINA 80347 NC_000017.10:g.40717672C>G;NM_001042529.2:c.1486-5C>G;NM_001042532.3:c.1573-5C>G;NM_025233.6:c.1486-5C>G 161059212 74886553 HumanOmni1-Quad_v1-0_B_SNP17-37971198-0_B_F_1588119917 3.39e-02 2009.08.07 2009.10.05 2009.12.01 2012.11.28 137 1000GENOMES 80347 NC_000017.10:g.40717672C>G;NM_001042529.2:c.1486-5C>G;NM_001042532.3:c.1573-5C>G;NM_025233.6:c.1486-5C>G 237243990 74886553 pilot_1_CEU_6848619_chr17_37971198 3.39e-02 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 ILLUMINA 80347 NC_000017.10:g.40717672C>G;NM_001042529.2:c.1486-5C>G;NM_001042532.3:c.1573-5C>G;NM_025233.6:c.1486-5C>G 479204377 74886553 HumanOmni1-Quad_v1-0_C_kgp1434633-0_B_F_1810579889 3.39e-02 2012.01.30 2012.01.30 2009.12.01 2012.11.28 137 1000GENOMES 80347 NC_000017.10:g.40717672C>G;NM_001042529.2:c.1486-5C>G;NM_001042532.3:c.1573-5C>G;NM_025233.6:c.1486-5C>G 491124205 74886553 20110521_exome_632003_chr17_40717672 3.39e-02 2012.02.22 2012.02.22 2009.12.01 2012.11.28 137 CLINSEQ_SNP 80347 NC_000017.10:g.40717672C>G;NM_001042529.2:c.1486-5C>G;NM_001042532.3:c.1573-5C>G;NM_025233.6:c.1486-5C>G 491737073 74886553 SNV-chr17-37971198 3.39e-02 2012.03.07 2012.03.13 2009.12.01 2012.11.28 137 NHLBI-ESP 80347 NC_000017.10:g.40717686C>T;NM_001042529.2:c.1495C>T;NM_001042532.3:c.1582C>T;NM_025233.6:c.1495C>T;NP_001035994.1:p.Arg499Cys;NP_001035997.2:p.Arg528Cys;NP_079509.5:p.Arg499Cys 342454749 140709867 ESP2500-chr17-40717686 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 1000GENOMES 80347 NC_000017.10:g.40717719G>A;NM_001042529.2:c.1528G>A;NM_001042532.3:c.1615G>A;NM_025233.6:c.1528G>A;NP_001035994.1:p.Ala510Thr;NP_001035997.2:p.Ala539Thr;NP_079509.5:p.Ala510Thr 489111987 199623481 20110521_exome_229495_chr17_40717719 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 NHLBI-ESP 80347 NC_000017.10:g.40717721G>A;NM_001042529.2:c.1530G>A;NM_001042532.3:c.1617G>A;NM_025233.6:c.1530G>A;NP_001035994.1:p.Ala510=;NP_001035997.2:p.Ala539=;NP_079509.5:p.Ala510= 342454750 143827517 ESP2500-chr17-40717721 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 1000GENOMES 80347 NC_000017.10:g.40717731C>T;NM_001042529.2:c.1540C>T;NM_001042532.3:c.1627C>T;NM_025233.6:c.1540C>T;NP_001035994.1:p.Arg514Trp;NP_001035997.2:p.Arg543Trp;NP_079509.5:p.Arg514Trp 489111989 201779417 20110521_exome_229496_chr17_40717731 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 NHLBI-ESP 80347 NC_000017.10:g.40717735T>G;NM_001042529.2:c.1544T>G;NM_001042532.3:c.1631T>G;NM_025233.6:c.1544T>G;NP_001035994.1:p.Leu515Arg;NP_001035997.2:p.Leu544Arg;NP_079509.5:p.Leu515Arg 342454751 147973804 ESP2500-chr17-40717735 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 1000GENOMES 80347 NC_000017.10:g.40717778C>T;NM_001042529.2:c.1587C>T;NM_001042532.3:c.1674C>T;NM_025233.6:c.1587C>T;NP_001035994.1:p.His529=;NP_001035997.2:p.His558=;NP_079509.5:p.His529= 339697402 151074271 20100804_snps_11340943_chr17_40717778 5.00e-03 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 NHLBI-ESP 80347 NC_000017.10:g.40717778C>T;NM_001042529.2:c.1587C>T;NM_001042532.3:c.1674C>T;NM_025233.6:c.1587C>T;NP_001035994.1:p.His529=;NP_001035997.2:p.His558=;NP_079509.5:p.His529= 342454752 151074271 ESP2500-chr17-40717778 5.00e-03 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 1000GENOMES 80347 NC_000017.10:g.40717778C>T;NM_001042529.2:c.1587C>T;NM_001042532.3:c.1674C>T;NM_025233.6:c.1587C>T;NP_001035994.1:p.His529=;NP_001035997.2:p.His558=;NP_079509.5:p.His529= 491124206 151074271 20110521_exome_632004_chr17_40717778 5.00e-03 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 CLINSEQ_SNP 80347 NC_000017.10:g.40717778C>T;NM_001042529.2:c.1587C>T;NM_001042532.3:c.1674C>T;NM_025233.6:c.1587C>T;NP_001035994.1:p.His529=;NP_001035997.2:p.His558=;NP_079509.5:p.His529= 491737074 151074271 SNV-chr17-37971304 5.00e-03 2012.03.07 2012.03.13 2011.05.09 2012.11.28 137 NHLBI-ESP 80347 NC_000017.10:g.40717818C>T;NM_001042529.2:c.1627C>T;NM_001042532.3:c.1714C>T;NM_025233.6:c.1627C>T;NP_001035994.1:p.Arg543Cys;NP_001035997.2:p.Arg572Cys;NP_079509.5:p.Arg543Cys 342454753 150098326 ESP2500-chr17-40717818 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 1000GENOMES 80347 NC_000017.10:g.40717848T>C;NM_001042529.2:c.1632+25T>C;NM_001042532.3:c.1719+25T>C;NM_025233.6:c.1632+25T>C 489111991 200849974 20110521_exome_229497_chr17_40717848 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 1000GENOMES 80347 NC_000017.10:g.40717957A>G;NM_001042529.2:c.1666A>G;NM_001042532.3:c.1753A>G;NM_025233.6:c.1666A>G;NP_001035994.1:p.Ile556Val;NP_001035997.2:p.Ile585Val;NP_079509.5:p.Ile556Val 339697403 140982382 20100804_snps_11340944_chr17_40717957 3.20e-03 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 NHLBI-ESP 80347 NC_000017.10:g.40717957A>G;NM_001042529.2:c.1666A>G;NM_001042532.3:c.1753A>G;NM_025233.6:c.1666A>G;NP_001035994.1:p.Ile556Val;NP_001035997.2:p.Ile585Val;NP_079509.5:p.Ile556Val 342454754 140982382 ESP2500-chr17-40717957 3.20e-03 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 1000GENOMES 80347 NC_000017.10:g.40717957A>G;NM_001042529.2:c.1666A>G;NM_001042532.3:c.1753A>G;NM_025233.6:c.1666A>G;NP_001035994.1:p.Ile556Val;NP_001035997.2:p.Ile585Val;NP_079509.5:p.Ile556Val 491124207 140982382 20110521_exome_632005_chr17_40717957 3.20e-03 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 EXOME_CHIP 80347 NC_000017.10:g.40717957A>G;NM_001042529.2:c.1666A>G;NM_001042532.3:c.1753A>G;NM_025233.6:c.1666A>G;NP_001035994.1:p.Ile556Val;NP_001035997.2:p.Ile585Val;NP_079509.5:p.Ile556Val 491522778 140982382 nonsyn_239004_chr_17_40717957 3.20e-03 2012.03.05 2012.03.05 2011.05.09 2012.11.28 137 CLINSEQ_SNP 80347 ARRAY(0x908a7400) 491737075 140982382 SNV-chr17-37971483 3.20e-03 2012.03.07 2012.03.13 2011.05.09 2012.11.28 137 1000GENOMES 80347 NC_000017.10:g.40718014C>T;NM_001042529.2:c.*28C>T;NM_001042532.3:c.*28C>T;NM_025233.6:c.*28C>T 489111993 200084076 20110521_exome_229498_chr17_40718014 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 1000GENOMES 80347 NC_000017.10:g.40718025C>T;NM_001042529.2:c.*39C>T;NM_001042532.3:c.*39C>T;NM_025233.6:c.*39C>T 489111995 202162428 20110521_exome_229499_chr17_40718025 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 1000GENOMES 80347 NC_000017.10:g.40718133G>A;NM_001042529.2:c.*147G>A;NM_001042532.3:c.*147G>A;NM_025233.6:c.*147G>A 339697404 150148070 20100804_snps_11340945_chr17_40718133 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 80347 NC_000017.10:g.40718283G>C;NM_001042529.2:c.*297G>C;NM_001042532.3:c.*297G>C;NM_025233.6:c.*297G>C 339697405 145552423 20100804_snps_11340946_chr17_40718283 2.30e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 80347 NC_000017.10:g.40718297G>A;NM_001042529.2:c.*311G>A;NM_001042532.3:c.*311G>A;NM_025233.6:c.*311G>A 464920915 189242970 20101123_snps_11088145_chr17_40718297 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 80347 NC_000017.10:g.40718371G>A;NM_001042529.2:c.*313+72G>A;NM_001042532.3:c.*313+72G>A;NM_025233.6:c.*313+72G>A 339697406 140423595 20100804_snps_11340947_chr17_40718371 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 80347 NC_000017.10:g.40718399A>G;NM_001042529.2:c.*313+100A>G;NM_001042532.3:c.*313+100A>G;NM_025233.6:c.*313+100A>G 464920916 180969454 20101123_snps_11088146_chr17_40718399 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 80347 NC_000017.10:g.40718440C>T;NM_001042529.2:c.*313+141C>T;NM_001042532.3:c.*313+141C>T;NM_025233.6:c.*313+141C>T 339697407 145519299 20100804_snps_11340948_chr17_40718440 1.80e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 80347 NC_000017.10:g.40718480G>A;NM_001042529.2:c.*313+181G>A;NM_001042532.3:c.*313+181G>A;NM_025233.6:c.*313+181G>A 464920917 186047488 20101123_snps_11088147_chr17_40718480 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BUSHMAN 80347 NC_000017.10:g.40718583A>C;NM_001042529.2:c.*313+284A>C;NM_001042532.3:c.*313+284A>C;NM_025233.6:c.*313+284A>C 202518347 111289205 BUSHMAN-chr17-37972108 2010.03.08 2010.03.08 2010.07.04 2011.09.09 137 COMPLETE_GENOMICS 80347 NC_000017.10:g.40718784G>C;NM_001042529.2:c.*313+485G>C;NM_001042532.3:c.*313+485G>C;NM_025233.6:c.*313+485G>C 171401292 113930535 NA20431_36_chr17_37972310 2009.10.01 2009.10.01 2010.07.04 2011.09.09 137 # Report date: 2013.2.9, Gene: COASY (80347), ss count: 57, rs count: 39.