# 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 7349 NC_000002.11:g.27529870T>C;NM_003353.2:c.*519A>G 454946253 187050445 20101123_snps_1113483_chr2_27529870 4.10e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 7349 NC_000002.11:g.27529880C>G;NM_003353.2:c.*509G>C 329498257 142453250 20100804_snps_1141793_chr2_27529880 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 7349 NC_000002.11:g.27530027C>T;NM_003353.2:c.*362G>A 329498258 78954740 20100804_snps_1141794_chr2_27530027 6.40e-03 2011.03.22 2011.03.22 2009.12.01 2012.11.28 137 CGAP-GAI 7349 NC_000002.11:g.27530185C>A;NM_003353.2:c.*204G>T 16263846 11557507 1527921 2003.11.18 2003.11.22 2004.02.28 2011.07.08 137 1000GENOMES 7349 NC_000002.11:g.27530230G>A;NM_003353.2:c.*159C>T 454946254 190336631 20101123_snps_1113484_chr2_27530230 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 7349 NC_000002.11:g.27530344G>T;NM_003353.2:c.*45C>A 329498259 139805248 20100804_snps_1141795_chr2_27530344 1.80e-03 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 7349 NC_000002.11:g.27530344G>T;NM_003353.2:c.*45C>A 489808290 139805248 20110521_exome_337833_chr2_27530344 1.80e-03 2012.02.15 2012.02.21 2011.05.09 2012.11.28 137 BUSHMAN 7349 NC_000002.11:g.27530350G>C;NM_003353.2:c.*39C>G 200191447 113819285 BUSHMAN-chr2-27383853 2010.03.07 2010.03.07 2010.07.04 2011.09.09 137 PHARMGKB_PHAT 7349 NC_000002.11:g.27530355G>A;NM_003353.2:c.*34C>T 69365519 28364045 PS204260_PA131654267_1376 5.00e-03 2007.03.22 2007.03.22 2005.05.24 2012.11.28 137 ILLUMINA 7349 NC_000002.11:g.27530355G>A;NM_003353.2:c.*34C>T 74990405 28364045 ILMN_Human_1M_rs28364045 5.00e-03 2007.08.29 2007.08.29 2005.05.24 2012.11.28 137 ILLUMINA 7349 NC_000002.11:g.27530355G>A;NM_003353.2:c.*34C>T 160687960 28364045 HumanOmni1-Quad_v1-0_B_rs45622335-128_B_F_1572931597 5.00e-03 2009.08.06 2009.10.04 2005.05.24 2012.11.28 137 COMPLETE_GENOMICS 7349 NC_000002.11:g.27530355G>A;NM_003353.2:c.*34C>T 164048230 28364045 NA07022_36_chr2_27383859 5.00e-03 2009.09.29 2009.09.29 2005.05.24 2012.11.28 137 ILLUMINA 7349 NC_000002.11:g.27530355G>A;NM_003353.2:c.*34C>T 173487242 28364045 Human1M-Duov3_B_rs28364045-126_B_F_1513971542 5.00e-03 2009.10.03 2009.10.03 2005.05.24 2012.11.28 137 1000GENOMES 7349 NC_000002.11:g.27530355G>A;NM_003353.2:c.*34C>T 329498260 28364045 20100804_snps_1141796_chr2_27530355 5.00e-03 2011.03.22 2011.03.22 2005.05.24 2012.11.28 137 ILLUMINA 7349 NC_000002.11:g.27530355G>A;NM_003353.2:c.*34C>T 481965896 28364045 HumanOmni1-Quad_v1-0_C_rs45622335-128_B_F_1769868136 5.00e-03 2012.02.01 2012.02.01 2005.05.24 2012.11.28 137 CLINSEQ_SNP 7349 NC_000002.11:g.27530355G>A;NM_003353.2:c.*34C>T 491780499 28364045 SNV-chr2-27383859 5.00e-03 2012.03.07 2012.03.13 2005.05.24 2012.11.28 137 1000GENOMES 7349 NC_000002.11:g.27530364G>A;NM_003353.2:c.*25C>T 454946255 182106011 20101123_snps_1113485_chr2_27530364 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 NHLBI-ESP 7349 NC_000002.11:g.27530478G>A;NM_003353.2:c.286C>T;NP_003344.1:p.Leu96= 342051169 140427781 ESP2500-chr2-27530478 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 EXOME_CHIP 7349 NC_000002.11:g.27530576G>A;NM_003353.2:c.188C>T;NP_003344.1:p.Pro63Leu 491316630 202193518 nonsyn_32857_chr_2_27530576 2012.03.05 2012.03.05 2012.05.04 2012.05.04 137 1000GENOMES 7349 NC_000002.11:g.27530637_27530638insG;NM_003353.2:c.126_127insC;NP_003344.1:p.Pro42_Gly43delinsProArgGlyfs 326247554 144639585 YRI_chr2_27384141_indel 2011.03.11 2011.04.02 2011.05.09 2011.09.09 137 BCM_SSAHASNP 7349 NC_000002.11:g.27530865C>G;NM_003353.2:c.-13-89G>C 9916238 6709781 chr2.NT_022184.12_6346798 2003.06.28 2003.10.10 2003.07.11 2011.07.08 137 ABI 7349 NC_000002.11:g.27530969C>T;NM_003353.2:c.-14+59G>A 44270092 35403114 hCV7872402 2005.07.18 2005.07.18 2006.03.15 2011.07.08 137 PHARMGKB_PHAT 7349 NC_000002.11:g.27531015C>T;NM_003353.2:c.-14+13G>A 69365518 28364046 PS204260_PA131654267_716 2007.03.22 2007.03.22 2005.05.24 2012.11.28 137 ILLUMINA 7349 NC_000002.11:g.27531015C>T;NM_003353.2:c.-14+13G>A 160686489 28364046 HumanOmni1-Quad_v1-0_B_rs45479296-128_T_F_1572931600 2009.08.06 2009.10.04 2005.05.24 2012.11.28 137 ILLUMINA 7349 NC_000002.11:g.27531015C>T;NM_003353.2:c.-14+13G>A 481960065 28364046 HumanOmni1-Quad_v1-0_C_rs45479296-128_T_F_1769868893 2012.02.01 2012.02.01 2005.05.24 2012.11.28 137 1000GENOMES 7349 NC_000002.11:g.27531185T>A;NM_003353.2:c.-171A>T 219133646 114069908 pilot_1_YRI_943329_chr2_27384689 1.65e-02 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 CGAP-GAI 7349 NC_000002.11:g.27531288T>C;NM_003353.2:c.-274A>G 16263847 11557508 1527922 2003.11.18 2003.11.22 2004.02.28 2011.07.08 137 1000GENOMES 7349 NC_000002.11:g.27531416C>T;NM_003353.2:c.-402G>A 454946256 187905893 20101123_snps_1113486_chr2_27531416 4.60e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 7349 NC_000002.11:g.27531532T>G;NM_003353.2:c.-518A>C 329498262 139360531 20100804_snps_1141798_chr2_27531532 1.40e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 7349 NC_000002.11:g.27531588G>C;NM_003353.2:c.-574C>G 454946257 193083367 20101123_snps_1113487_chr2_27531588 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 7349 NC_000002.11:g.27531656C>T;NM_003353.2:c.-642G>A 329498263 150025149 20100804_snps_1141799_chr2_27531656 1.80e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 BCM_SSAHASNP 7349 NC_000002.11:g.27531665T>C;NM_003353.2:c.-651A>G 9955969 6731600 chr2.NT_022184.12_6347598 3.11e-02 2003.06.28 2003.10.10 2003.07.11 2012.11.28 137 PHARMGKB_PHAT 7349 NC_000002.11:g.27531665T>C;NM_003353.2:c.-651A>G 69365517 6731600 PS204260_PA131654267_66 3.11e-02 2007.03.22 2008.03.31 2003.07.11 2012.11.28 137 PHARMGKB_PHAT 7349 NC_000002.11:g.27531665T>C;NM_003353.2:c.-651A>G 69366915 6731600 PS205104_PA137625111_101 3.11e-02 2007.03.22 2008.03.31 2003.07.11 2012.11.28 137 ILLUMINA 7349 NC_000002.11:g.27531665T>C;NM_003353.2:c.-651A>G 75049073 6731600 ILMN_Human_1M_rs6731600 3.11e-02 2007.08.29 2007.08.29 2003.07.11 2012.11.28 137 ILLUMINA-UK 7349 NC_000002.11:g.27531665T>C;NM_003353.2:c.-651A>G 117632959 6731600 NA18507_000040524_NCBI36.1_chr2_27385169 3.11e-02 2009.01.19 2009.01.19 2003.07.11 2012.11.28 137 KRIBB_YJKIM 7349 NC_000002.11:g.27531665T>C;NM_003353.2:c.-651A>G 119523234 6731600 KHS1685481 3.11e-02 2009.02.05 2009.02.05 2003.07.11 2012.11.28 137 ILLUMINA 7349 NC_000002.11:g.27531665T>C;NM_003353.2:c.-651A>G 160803468 6731600 HumanOmni1-Quad_v1-0_B_rs6731600-128_T_R_1514011750 3.11e-02 2009.08.07 2009.10.04 2003.07.11 2012.11.28 137 ILLUMINA 7349 NC_000002.11:g.27531665T>C;NM_003353.2:c.-651A>G 174089084 6731600 Human1M-Duov3_B_rs6731600-128_T_R_1514011750 3.11e-02 2009.10.04 2009.10.04 2003.07.11 2012.11.28 137 1000GENOMES 7349 NC_000002.11:g.27531665T>C;NM_003353.2:c.-651A>G 219133647 6731600 pilot_1_YRI_943330_chr2_27385169 3.11e-02 2010.04.22 2010.04.22 2003.07.11 2012.11.28 137 1000GENOMES 7349 NC_000002.11:g.27531665T>C;NM_003353.2:c.-651A>G 231086067 6731600 pilot_1_CEU_690696_chr2_27385169 3.11e-02 2010.05.01 2010.05.01 2003.07.11 2012.11.28 137 ILLUMINA 7349 NC_000002.11:g.27531665T>C;NM_003353.2:c.-651A>G 410833358 6731600 Cardio-Metabo_Chip_11395247_A_chr2_27385169 3.11e-02 2011.06.07 2011.06.07 2003.07.11 2012.11.28 137 ILLUMINA 7349 NC_000002.11:g.27531665T>C;NM_003353.2:c.-651A>G 481334899 6731600 HumanOmni2.5-4v1_B_rs6731600-128_T_R_1768678132 3.11e-02 2012.01.31 2012.01.31 2003.07.11 2012.11.28 137 ILLUMINA 7349 NC_000002.11:g.27531665T>C;NM_003353.2:c.-651A>G 481360291 6731600 HumanOmniExpress-12v1_C_rs6731600-131_T_R_1857035935 3.11e-02 2012.01.31 2012.01.31 2003.07.11 2012.11.28 137 ILLUMINA 7349 NC_000002.11:g.27531665T>C;NM_003353.2:c.-651A>G 482340598 6731600 HumanOmni1-Quad_v1-0_C_rs6731600-131_T_R_1857035935 3.11e-02 2012.02.01 2012.02.01 2003.07.11 2012.11.28 137 ILLUMINA 7349 NC_000002.11:g.27531665T>C;NM_003353.2:c.-651A>G 485462566 6731600 HumanOmni2.5-4v1_D_rs6731600-131_T_R_1857035935 3.11e-02 2012.02.05 2012.02.05 2003.07.11 2012.11.28 137 1000GENOMES 7349 NC_000002.11:g.27531781T>C;NM_003353.2:c.-767A>G 454946258 185796534 20101123_snps_1113488_chr2_27531781 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 7349 NC_000002.11:g.27531842G>A;NM_003353.2:c.-828C>T 329498264 147716411 20100804_snps_1141800_chr2_27531842 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 7349 NC_000002.11:g.27531967C>T;NM_003353.2:c.-953G>A 238659940 117471331 pilot_1_CHB+JPT_545017_chr2_27385471 3.20e-03 2010.05.01 2010.05.01 2010.07.15 2011.10.06 137 ILLUMINA 7349 NC_000002.11:g.27531967C>T;NM_003353.2:c.-953G>A 410833359 117471331 Cardio-Metabo_Chip_11395247_A_chr2_27385471 3.20e-03 2011.06.07 2011.06.07 2010.07.15 2011.10.06 137 1000GENOMES 7349 NC_000002.11:g.27531968G>A;NM_003353.2:c.-954C>T 329498265 142480655 20100804_snps_1141801_chr2_27531968 1.40e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 WI_SSAHASNP 7349 NC_000002.11:g.27532060C>G;NM_003353.2:c.-1046G>C 6424353 4665964 NT_005204.11_6347710 2003.02.12 2003.10.10 2003.02.20 2011.07.08 137 1000GENOMES 7349 NC_000002.11:g.27532073C>T;NM_003353.2:c.-1059G>A 454946259 188313807 20101123_snps_1113489_chr2_27532073 2.70e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 7349 NC_000002.11:g.27532101G>A;NM_003353.2:c.-1087C>T 454946260 191937545 20101123_snps_1113490_chr2_27532101 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 7349 NC_000002.11:g.27532204C>T;NM_003353.2:c.-1190G>A 454946261 184409007 20101123_snps_1113491_chr2_27532204 8.70e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 DEVINE_LAB 7349 NC_000002.11:g.27532240delA;NC_000002.11:g.27532240delAinsAAAAA;NC_000002.11:g.27532240delAinsAAAAAAAAAA;NM_003353.2:c.-1226delT;NM_003353.2:c.-1226delTinsTTTTT;NM_003353.2:c.-1226delTinsTTTTTTTTTT 101243473 66515238 INDEL_GP36_2008a_1503529_0 2008.05.17 2008.05.17 2009.02.04 2012.05.16 137 DEVINE_LAB 7349 NC_000002.11:g.27532240delA;NC_000002.11:g.27532240delAinsAAAAA;NC_000002.11:g.27532240delAinsAAAAAAAAAA;NM_003353.2:c.-1226delT;NM_003353.2:c.-1226delTinsTTTTT;NM_003353.2:c.-1226delTinsTTTTTTTTTT 101517700 66515238 INDEL_GP36_2008a_1500705_0 2008.05.17 2008.05.17 2009.02.04 2012.05.16 137 DEVINE_LAB 7349 NC_000002.11:g.27532240delA;NC_000002.11:g.27532240delAinsAAAAA;NC_000002.11:g.27532240delAinsAAAAAAAAAA;NM_003353.2:c.-1226delT;NM_003353.2:c.-1226delTinsTTTTT;NM_003353.2:c.-1226delTinsTTTTTTTTTT 101891426 66515238 INDEL_GP36_2008a_1500704_0 2008.05.18 2008.05.18 2009.02.04 2012.05.16 137 DEVINE_LAB 7349 NC_000002.11:g.27532240delA;NC_000002.11:g.27532240delAinsAAAAA;NC_000002.11:g.27532240delAinsAAAAAAAAAA;NM_003353.2:c.-1226delT;NM_003353.2:c.-1226delTinsTTTTT;NM_003353.2:c.-1226delTinsTTTTTTTTTT 101891429 66515238 INDEL_GP36_2008a_1500704_1 2008.05.18 2008.05.18 2009.02.04 2012.05.16 137 ENSEMBL 7349 NC_000002.11:g.27532268A>T;NM_003353.2:c.-1254T>A 138409781 77551404 ENSSNP11982864 2009.05.17 2009.05.17 2009.12.01 2011.07.08 137 DEVINE_LAB 7349 NC_000002.11:g.27532240_27532241insAAAAAAAAAAAAAAAA;NM_003353.2:c.-1227_-1226insTTTTTTTTTTTTTTTT 102455873 72434311 INDEL_GP36_2008a_2686267_0 2008.05.18 2008.05.18 2009.02.13 2011.07.08 137 ENSEMBL 7349 NC_000002.11:g.27532270T>A;NM_003353.2:c.-1256A>T 138409782 78375956 ENSSNP11982865 2009.05.17 2009.05.17 2009.12.01 2011.07.08 137 ENSEMBL 7349 NC_000002.11:g.27532279T>G;NM_003353.2:c.-1265A>C 161254746 76741938 ENSSNP1758130 2009.09.24 2010.03.07 2009.12.01 2011.09.09 137 BL 7349 NC_000002.11:g.27532320A>G;NM_003353.2:c.-1306T>C 252989076 147009348 SNP31455_2_27385824 2010.08.18 2010.08.18 2011.05.09 2011.07.08 137 LEE 7349 NC_000002.11:g.27532422C>T;NM_003353.2:c.-1408G>A 1523816 1049801 373554 2000.09.13 2003.10.10 2000.10.05 2011.07.08 137 LEE 7349 NC_000002.11:g.27532422C>T;NM_003353.2:c.-1408G>A 4414826 1049801 e373554 2002.04.26 2003.10.10 2000.10.05 2011.07.08 137 1000GENOMES 7349 NC_000002.11:g.27532433G>A;NM_003353.2:c.-1419C>T 329498266 144697795 20100804_snps_1141802_chr2_27532433 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 LEE 7349 NC_000002.11:g.27532442G>A;NM_003353.2:c.-1428C>T 1523814 1049799 373527 2000.09.13 2003.10.10 2000.10.05 2011.07.08 137 LEE 7349 NC_000002.11:g.27532442G>A;NM_003353.2:c.-1428C>T 4414824 1049799 e373527 2002.04.26 2003.10.10 2000.10.05 2011.07.08 137 LEE 7349 NC_000002.11:g.27532482G>A;NM_003353.2:c.-1468C>T 1523808 1049796 373454 2000.09.13 2003.10.10 2000.10.05 2011.07.08 137 LEE 7349 NC_000002.11:g.27532482G>A;NM_003353.2:c.-1468C>T 4414820 1049796 e373454 2002.04.26 2003.10.10 2000.10.05 2011.07.08 137 LEE 7349 NC_000002.11:g.27532485T>G;NM_003353.2:c.-1471A>C 1523807 1049795 373444 2000.09.13 2003.10.10 2000.10.05 2011.07.08 137 LEE 7349 NC_000002.11:g.27532485T>G;NM_003353.2:c.-1471A>C 4414819 1049795 e373444 2002.04.26 2003.10.10 2000.10.05 2011.07.08 137 LEE 7349 NC_000002.11:g.27532575T>G;NM_003353.2:c.-1561A>C 1523801 1049790 373318 2000.09.13 2003.10.10 2000.10.05 2011.07.08 137 LEE 7349 NC_000002.11:g.27532575T>G;NM_003353.2:c.-1561A>C 4414816 1049790 e373318 2002.04.26 2003.10.10 2000.10.05 2011.07.08 137 CGAP-GAI 7349 NC_000002.11:g.27532575T>G;NM_003353.2:c.-1561A>C 16243810 1049790 1485027 2003.11.18 2003.11.22 2000.10.05 2011.07.08 137 LEE 7349 NC_000002.11:g.27532584G>A;NM_003353.2:c.-1570C>T 1523776 1049772 373250 2000.09.13 2004.05.16 2000.10.05 2012.11.28 137 LEE 7349 NC_000002.11:g.27532584G>A;NM_003353.2:c.-1570C>T 4414812 1049772 e373250 2002.04.26 2003.10.10 2000.10.05 2012.11.28 137 LEE 7349 NC_000002.11:g.27532625G>A;NM_003353.2:c.-1611C>T 1523753 1049751 373166 2000.09.13 2003.10.10 2000.10.05 2012.11.28 137 LEE 7349 NC_000002.11:g.27532625G>A;NM_003353.2:c.-1611C>T 4394273 1049751 ge373166 2002.04.25 2003.10.10 2000.10.05 2012.11.28 137 LEE 7349 NC_000002.11:g.27532625G>A;NM_003353.2:c.-1611C>T 4414808 1049751 e373166 2002.04.26 2003.10.10 2000.10.05 2012.11.28 137 ILLUMINA 7349 NC_000002.11:g.27532625G>A;NM_003353.2:c.-1611C>T 75181354 1049751 ILMN_Human_1M_rs1049751 2007.08.29 2007.08.29 2000.10.05 2012.11.28 137 KRIBB_YJKIM 7349 NC_000002.11:g.27532625G>A;NM_003353.2:c.-1611C>T 119380298 1049751 KHS1542545 2009.02.04 2009.02.04 2000.10.05 2012.11.28 137 ILLUMINA 7349 NC_000002.11:g.27532625G>A;NM_003353.2:c.-1611C>T 170218098 1049751 Human1M-Duov3_B_rs1049751-106_T_R_1514126318 2009.10.01 2009.10.01 2000.10.05 2012.11.28 137 1000GENOMES 7349 NC_000002.11:g.27532665T>A;NM_003353.2:c.-1651A>T 454946262 188354035 20101123_snps_1113492_chr2_27532665 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 7349 NC_000002.11:g.27532672G>T;NM_003353.2:c.-1658C>A 454946263 181227313 20101123_snps_1113493_chr2_27532672 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 7349 NC_000002.11:g.27532685C>T;NM_003353.2:c.-1671G>A 454946264 183584895 20101123_snps_1113494_chr2_27532685 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 CLINSEQ_SNP 7349 NC_000002.11:g.27532700G>A;NM_003353.2:c.-1686C>T 491780500 200529035 SNV-chr2-27386204 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 1000GENOMES 7349 NC_000002.11:g.27532726G>A;NM_003353.2:c.-1712C>T 454946265 189632972 20101123_snps_1113495_chr2_27532726 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 7349 NC_000002.11:g.27532733G>T;NM_003353.2:c.-1719C>A 454946266 182018397 20101123_snps_1113496_chr2_27532733 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 7349 NC_000002.11:g.27532733G>T;NM_003353.2:c.-1719C>A 489808292 182018397 20110521_exome_337834_chr2_27532733 1.40e-03 2012.02.15 2012.02.21 2011.09.17 2012.11.28 137 1000GENOMES 7349 NC_000002.11:g.27532746C>T;NM_003353.2:c.-1732G>A 329498267 147885371 20100804_snps_1141803_chr2_27532746 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 7349 NC_000002.11:g.27532746C>T;NM_003353.2:c.-1732G>A 489808294 147885371 20110521_exome_337835_chr2_27532746 9.00e-04 2012.02.15 2012.02.21 2011.05.09 2012.11.28 137 CLINSEQ_SNP 7349 NC_000002.11:g.27532746C>T;NM_003353.2:c.-1732G>A 491780501 147885371 SNV-chr2-27386250 9.00e-04 2012.03.07 2012.03.13 2011.05.09 2012.11.28 137 1000GENOMES 7349 NC_000002.11:g.27532762C>T;NM_003353.2:c.-1748G>A 488710768 201679811 20110521_exome_31744_chr2_27532762 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 1000GENOMES 7349 NC_000002.11:g.27532768A>C;NM_003353.2:c.-1754T>G 488710770 201202659 20110521_exome_31745_chr2_27532768 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 GENEREVIEWS 7349 NM_002437.4:c.509C>T ARRAY(0x967b1610) 530263727 267607260 NM_002437.4:c.509C>T pathogenic 2012.06.12 2012.07.20 2012.07.20 2012.09.29 137 OMIM-CURATED-RECORDS 7349 NM_002437.4:c.498C>A NC_000002.11:g.27532813G>T;NM_003353.2:c.-1799C>A 263198031 121909722 2177 germline pathogenic 2010.11.04 2010.11.04 2010.11.04 2012.11.28 137 GENEREVIEWS 7349 NM_002437.4:c.498C>A NC_000002.11:g.27532813G>T;NM_003353.2:c.-1799C>A 530263725 121909722 NM_002437.4:c.498C>A germline pathogenic 2012.06.12 2012.07.20 2010.11.04 2012.11.28 137 GENEREVIEWS 7349 NM_002437.4:c.485C>A NC_000002.11:g.27532826G>T;NM_003353.2:c.-1812C>A 530263723 267607259 NM_002437.4:c.485C>A pathogenic 2012.06.12 2012.07.20 2012.07.20 2012.09.29 137 BCMHGSC_JDW 7349 NC_000002.11:g.27532870A>G;NM_003353.2:c.-1856T>C 91096442 62130714 JWB-2977931 2.32e-01 2008.03.01 2008.03.01 2008.03.24 2012.11.28 137 BGI 7349 NC_000002.11:g.27532870A>G;NM_003353.2:c.-1856T>C 103467548 62130714 BGI_YHSNP0175077 2.32e-01 2008.06.06 2009.06.17 2008.03.24 2012.11.28 137 1000GENOMES 7349 NC_000002.11:g.27532870A>G;NM_003353.2:c.-1856T>C 109343801 62130714 CEU.trio.12.15.2008_338325_chr2_27386374 2.32e-01 2008.12.16 2008.12.16 2008.03.24 2012.11.28 137 ENSEMBL 7349 NC_000002.11:g.27532870A>G;NM_003353.2:c.-1856T>C 138409783 62130714 ENSSNP6366252 2.32e-01 2009.05.17 2009.05.17 2008.03.24 2012.11.28 137 BUSHMAN 7349 NC_000002.11:g.27532870A>G;NM_003353.2:c.-1856T>C 200191451 62130714 BUSHMAN-chr2-27386373 2.32e-01 2010.03.07 2010.03.07 2008.03.24 2012.11.28 137 1000GENOMES 7349 NC_000002.11:g.27532870A>G;NM_003353.2:c.-1856T>C 210849868 62130714 YRI.trio.3.2010_136416_chr2_27386374 2.32e-01 2010.03.29 2010.03.29 2008.03.24 2012.11.28 137 1000GENOMES 7349 NC_000002.11:g.27532870A>G;NM_003353.2:c.-1856T>C 219133648 62130714 pilot_1_YRI_943331_chr2_27386374 2.32e-01 2010.04.22 2010.04.22 2008.03.24 2012.11.28 137 1000GENOMES 7349 NC_000002.11:g.27532870A>G;NM_003353.2:c.-1856T>C 231086068 62130714 pilot_1_CEU_690697_chr2_27386374 2.32e-01 2010.05.01 2010.05.01 2008.03.24 2012.11.28 137 1000GENOMES 7349 NC_000002.11:g.27532870A>G;NM_003353.2:c.-1856T>C 238659941 62130714 pilot_1_CHB+JPT_545018_chr2_27386374 2.32e-01 2010.05.01 2010.05.01 2008.03.24 2012.11.28 137 BL 7349 NC_000002.11:g.27532870A>G;NM_003353.2:c.-1856T>C 252989082 62130714 SNP31456_2_27386374 2.32e-01 2010.08.18 2010.08.18 2008.03.24 2012.11.28 137 GMI 7349 NC_000002.11:g.27532870A>G;NM_003353.2:c.-1856T>C 276394758 62130714 GMI_AK_SNP_714925 2.32e-01 2010.12.16 2010.12.16 2008.03.24 2012.11.28 137 ILLUMINA 7349 NC_000002.11:g.27532870A>G;NM_003353.2:c.-1856T>C 410833360 62130714 Cardio-Metabo_Chip_11395247_A_chr2_27386374 2.32e-01 2011.06.07 2011.06.07 2008.03.24 2012.11.28 137 ILLUMINA 7349 NC_000002.11:g.27532870A>G;NM_003353.2:c.-1856T>C 479619399 62130714 HumanOmni2.5-4v1_D_kgp11252453-0_T_F_1815371785 2.32e-01 2012.01.30 2012.01.30 2008.03.24 2012.11.28 137 ILLUMINA 7349 NC_000002.11:g.27532870A>G;NM_003353.2:c.-1856T>C 484057911 62130714 HumanOmni2.5-4v1_B_SNP2-27386374-0_T_F_1615968102 2.32e-01 2012.02.03 2012.02.03 2008.03.24 2012.11.28 137 1000GENOMES 7349 NC_000002.11:g.27532870A>G;NM_003353.2:c.-1856T>C 489808296 62130714 20110521_exome_337836_chr2_27532870 2.32e-01 2012.02.15 2012.02.21 2008.03.24 2012.11.28 137 CLINSEQ_SNP 7349 NC_000002.11:g.27532870A>G;NM_003353.2:c.-1856T>C 491780502 62130714 SNV-chr2-27386374 2.32e-01 2012.03.07 2012.03.13 2008.03.24 2012.11.28 137 ABI 7349 NC_000002.11:g.27532984delT;NM_003353.2:c.-1970delA 41628849 35424642 hCV33109091 2005.07.17 2005.07.17 2006.03.15 2011.07.08 137 ENSEMBL 7349 NC_000002.11:g.27532991T>G;NM_003353.2:c.-1977A>C 138409784 77569563 ENSSNP11982867 2009.05.17 2009.05.17 2009.12.01 2011.09.09 137 1000GENOMES 7349 NC_000002.11:g.27533048C>T;NM_003353.2:c.-2034G>A 231086069 115371897 pilot_1_CEU_690698_chr2_27386552 6.00e-03 2010.05.01 2010.05.01 2010.07.14 2012.11.28 137 1000GENOMES 7349 NC_000002.11:g.27533116A>C;NM_003353.2:c.-2102T>G 454946267 187628677 20101123_snps_1113497_chr2_27533116 1.33e-02 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 # Report date: 2013.2.9, Gene: UCN (7349), ss count: 120, rs count: 61.