# 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 ENSEMBL 23450 NC_000016.9:g.70555769T>A;NM_012426.4:c.-2133T>A 136784723 76805459 ENSSNP11152475 2009.05.15 2009.05.15 2009.12.01 2011.09.09 137 BCM_SSAHASNP 23450 NC_000016.9:g.70556058A>G;NM_012426.4:c.-1844A>G 13765176 9926355 chr16.NT_010498.14_19277556 9.89e-02 2003.11.05 2003.11.22 2003.12.05 2012.11.28 137 COMPLETE_GENOMICS 23450 NC_000016.9:g.70556058A>G;NM_012426.4:c.-1844A>G 170063751 9926355 NA19240_36_chr16_69113559 9.89e-02 2009.10.01 2009.10.01 2003.12.05 2012.11.28 137 1000GENOMES 23450 NC_000016.9:g.70556058A>G;NM_012426.4:c.-1844A>G 339361648 9926355 20100804_snps_11005189_chr16_70556058 9.89e-02 2011.03.22 2011.03.22 2003.12.05 2012.11.28 137 BUSHMAN 23450 NC_000016.9:g.70556083A>G;NM_012426.4:c.-1819A>G 201844777 113028197 BUSHMAN-chr16-69113583 2010.03.08 2010.03.08 2010.07.04 2011.09.09 137 GMI 23450 NC_000016.9:g.70556086G>A;NM_012426.4:c.-1816G>A 282579410 201201983 GMI_AK_SNP_6899827 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 1000GENOMES 23450 NC_000016.9:g.70556349G>A;NM_012426.4:c.-1553G>A 464652977 184600858 20101123_snps_10820207_chr16_70556349 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 23450 NC_000016.9:g.70556370A>C;NM_012426.4:c.-1532A>C 464652978 188575408 20101123_snps_10820208_chr16_70556370 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 COMPLETE_GENOMICS 23450 NC_000016.9:g.70556470C>T;NM_012426.4:c.-1432C>T 168395972 79690677 NA07022_36_chr16_69113971 3.48e-02 2009.10.01 2009.10.01 2009.12.01 2012.11.28 137 1000GENOMES 23450 NC_000016.9:g.70556470C>T;NM_012426.4:c.-1432C>T 210899085 79690677 CEU.trio.3.2010_147644_chr16_69113971 3.48e-02 2010.03.29 2010.03.29 2009.12.01 2012.11.28 137 1000GENOMES 23450 NC_000016.9:g.70556470C>T;NM_012426.4:c.-1432C>T 237071811 79690677 pilot_1_CEU_6676440_chr16_69113971 3.48e-02 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 ILLUMINA 23450 NC_000016.9:g.70556470C>T;NM_012426.4:c.-1432C>T 479635800 79690677 HumanOmni2.5-4v1_D_kgp11296842-0_T_R_1801548646 3.48e-02 2012.01.30 2012.01.30 2009.12.01 2012.11.28 137 ILLUMINA 23450 NC_000016.9:g.70556470C>T;NM_012426.4:c.-1432C>T 483541109 79690677 HumanOmni2.5-4v1_B_SNP16-69113971-0_T_R_1628990241 3.48e-02 2012.02.02 2012.02.02 2009.12.01 2012.11.28 137 1000GENOMES 23450 NC_000016.9:g.70556479C>T;NM_012426.4:c.-1423C>T 339361649 140060901 20100804_snps_11005190_chr16_70556479 1.40e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 23450 NC_000016.9:g.70556539C>T;NM_012426.4:c.-1363C>T 339361650 150290694 20100804_snps_11005191_chr16_70556539 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 23450 NC_000016.9:g.70556590C>G;NM_012426.4:c.-1312C>G 464652979 180688642 20101123_snps_10820209_chr16_70556590 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 23450 NC_000016.9:g.70556606G>A;NM_012426.4:c.-1296G>A 339361651 137940078 20100804_snps_11005192_chr16_70556606 4.10e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 23450 NC_000016.9:g.70556635G>A;NM_012426.4:c.-1267G>A 464652980 185264170 20101123_snps_10820210_chr16_70556635 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 23450 NC_000016.9:g.70556744G>A;NM_012426.4:c.-1158G>A 339361652 149481008 20100804_snps_11005193_chr16_70556744 4.10e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 BL 23450 NC_000016.9:g.70556873A>G;NM_012426.4:c.-1029A>G 255786162 151059781 SNP73614_16_69114374 3.70e-03 2010.08.20 2010.08.20 2011.05.09 2011.10.06 137 1000GENOMES 23450 NC_000016.9:g.70556873A>G;NM_012426.4:c.-1029A>G 464652981 151059781 20101123_snps_10820211_chr16_70556873 3.70e-03 2011.07.20 2011.07.20 2011.05.09 2011.10.06 137 1000GENOMES 23450 NC_000016.9:g.70556983G>C;NM_012426.4:c.-919G>C 464652982 182271029 20101123_snps_10820212_chr16_70556983 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 23450 NC_000016.9:g.70557018T>C;NM_012426.4:c.-884T>C 464652983 186880327 20101123_snps_10820213_chr16_70557018 2.70e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 23450 NC_000016.9:g.70557115G>T;NM_012426.4:c.-787G>T 115262474 73573163 NA19240_2008_12_16_2976424_chr16_69114616 9.89e-02 2008.12.19 2008.12.19 2009.02.14 2011.09.09 137 ILLUMINA-UK 23450 NC_000016.9:g.70557115G>T;NM_012426.4:c.-787G>T 118294963 73573163 NA18507_000073479_NCBI36.1_chr16_69114616 9.89e-02 2009.01.21 2009.01.21 2009.02.14 2011.09.09 137 COMPLETE_GENOMICS 23450 NC_000016.9:g.70557115G>T;NM_012426.4:c.-787G>T 170063764 73573163 NA19240_36_chr16_69114616 9.89e-02 2009.10.01 2009.10.01 2009.02.14 2011.09.09 137 BUSHMAN 23450 NC_000016.9:g.70557115G>T;NM_012426.4:c.-787G>T 201844782 73573163 BUSHMAN-chr16-69114615 9.89e-02 2010.03.08 2010.03.08 2009.02.14 2011.09.09 137 1000GENOMES 23450 NC_000016.9:g.70557115G>T;NM_012426.4:c.-787G>T 227307003 73573163 pilot_1_YRI_9116686_chr16_69114616 9.89e-02 2010.04.22 2010.04.22 2009.02.14 2011.09.09 137 1000GENOMES 23450 NC_000016.9:g.70557145C>G;NM_012426.4:c.-757C>G 339361653 145971043 20100804_snps_11005194_chr16_70557145 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 23450 NC_000016.9:g.70557188delG;NM_012426.4:c.-714delG 327744756 141876085 JPTCHB_chr16_69114688_indel 2011.03.12 2011.04.03 2011.05.09 2011.09.09 137 HGSV 23450 NC_000016.9:g.70557213C>G;NM_012426.4:c.-689C>G 79762321 59149508 Cor18507_SNV_20070510.chr16_69114714 1.19e-02 2007.11.23 2007.11.23 2007.12.15 2012.11.28 137 ILLUMINA-UK 23450 NC_000016.9:g.70557213C>G;NM_012426.4:c.-689C>G 118294965 59149508 NA18507_000073480_NCBI36.1_chr16_69114714 1.19e-02 2009.01.21 2009.01.21 2007.12.15 2012.11.28 137 1000GENOMES 23450 NC_000016.9:g.70557213C>G;NM_012426.4:c.-689C>G 227307004 59149508 pilot_1_YRI_9116687_chr16_69114714 1.19e-02 2010.04.22 2010.04.22 2007.12.15 2012.11.28 137 1000GENOMES 23450 NC_000016.9:g.70557220G>A;NM_012426.4:c.-682G>A 464652984 191470852 20101123_snps_10820214_chr16_70557220 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 PERLEGEN 23450 NC_000016.9:g.70557258A>G;NM_012426.4:c.-644A>G 23611871 16970260 afd0974490 9.57e-02 2004.08.20 2004.09.13 2004.09.20 2012.11.28 137 ILLUMINA 23450 NC_000016.9:g.70557258A>G;NM_012426.4:c.-644A>G 75099666 16970260 ILMN_Human_1M_rs16970260 9.57e-02 2007.08.29 2007.08.29 2004.09.20 2012.11.28 137 1000GENOMES 23450 NC_000016.9:g.70557258A>G;NM_012426.4:c.-644A>G 115262483 16970260 NA19240_2008_12_16_2976425_chr16_69114759 9.57e-02 2008.12.19 2008.12.19 2004.09.20 2012.11.28 137 ILLUMINA-UK 23450 NC_000016.9:g.70557258A>G;NM_012426.4:c.-644A>G 118294967 16970260 NA18507_000073481_NCBI36.1_chr16_69114759 9.57e-02 2009.01.21 2009.01.21 2004.09.20 2012.11.28 137 KRIBB_YJKIM 23450 NC_000016.9:g.70557258A>G;NM_012426.4:c.-644A>G 119859051 16970260 KHS1882510 9.57e-02 2009.02.05 2009.02.05 2004.09.20 2012.11.28 137 ILLUMINA 23450 NC_000016.9:g.70557258A>G;NM_012426.4:c.-644A>G 160404485 16970260 HumanOmni1-Quad_v1-0_B_rs16970260-128_T_F_1514072002 9.57e-02 2009.08.06 2009.10.02 2004.09.20 2012.11.28 137 COMPLETE_GENOMICS 23450 NC_000016.9:g.70557258A>G;NM_012426.4:c.-644A>G 170063780 16970260 NA19240_36_chr16_69114759 9.57e-02 2009.10.01 2009.10.01 2004.09.20 2012.11.28 137 ILLUMINA 23450 NC_000016.9:g.70557258A>G;NM_012426.4:c.-644A>G 172685191 16970260 Human1M-Duov3_B_rs16970260-127_T_F_1514072002 9.57e-02 2009.10.02 2009.10.02 2004.09.20 2012.11.28 137 BUSHMAN 23450 NC_000016.9:g.70557258A>G;NM_012426.4:c.-644A>G 201844786 16970260 BUSHMAN-chr16-69114758 9.57e-02 2010.03.08 2010.03.08 2004.09.20 2012.11.28 137 1000GENOMES 23450 NC_000016.9:g.70557258A>G;NM_012426.4:c.-644A>G 227307005 16970260 pilot_1_YRI_9116688_chr16_69114759 9.57e-02 2010.04.22 2010.04.22 2004.09.20 2012.11.28 137 ILLUMINA 23450 NC_000016.9:g.70557258A>G;NM_012426.4:c.-644A>G 480126918 16970260 HumanOmni2.5-4v1_B_rs16970260-128_T_F_1514072002 9.57e-02 2012.01.31 2012.01.31 2004.09.20 2012.11.28 137 ILLUMINA 23450 NC_000016.9:g.70557258A>G;NM_012426.4:c.-644A>G 480135982 16970260 HumanOmniExpress-12v1_C_rs16970260-131_T_F_1857679993 9.57e-02 2012.01.31 2012.01.31 2004.09.20 2012.11.28 137 ILLUMINA 23450 NC_000016.9:g.70557258A>G;NM_012426.4:c.-644A>G 480834905 16970260 HumanOmni1-Quad_v1-0_C_rs16970260-131_T_F_1865630822 9.57e-02 2012.01.31 2012.01.31 2004.09.20 2012.11.28 137 ILLUMINA 23450 NC_000016.9:g.70557258A>G;NM_012426.4:c.-644A>G 484861468 16970260 HumanOmni2.5-4v1_D_rs16970260-131_T_F_1857679993 9.57e-02 2012.02.04 2012.02.04 2004.09.20 2012.11.28 137 1000GENOMES 23450 NC_000016.9:g.70557258A>G;NM_012426.4:c.-644A>G 491106696 16970260 20110521_exome_614494_chr16_70557258 9.57e-02 2012.02.22 2012.02.22 2004.09.20 2012.11.28 137 CLINSEQ_SNP 23450 NC_000016.9:g.70557258A>G;NM_012426.4:c.-644A>G 491721667 16970260 SNV-chr16-69114759 9.57e-02 2012.03.07 2012.03.13 2004.09.20 2012.11.28 137 1000GENOMES 23450 NC_000016.9:g.70557296C>G;NM_012426.4:c.-606C>G 489085431 201370408 20110521_exome_216257_chr16_70557296 0 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 1000GENOMES 23450 NC_000016.9:g.70557297G>A;NM_012426.4:c.-605G>A 489085433 200747786 20110521_exome_216258_chr16_70557297 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 NHLBI-ESP 23450 NC_000016.9:g.70557387C>G;NM_012426.4:c.-515C>G 342432872 143441323 ESP2500-chr16-70557387 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 EXOME_CHIP 23450 NC_000016.9:g.70557406A>G;NM_012426.4:c.-496A>G 491510566 200844029 nonsyn_226792_chr_16_70557406 2012.03.05 2012.03.05 2012.05.04 2012.05.04 137 NHLBI-ESP 23450 NC_000016.9:g.70557412G>C;NM_012426.4:c.-490G>C 342432873 146758430 ESP2500-chr16-70557412 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 1000GENOMES 23450 NC_000016.9:g.70557417C>G;NM_012426.4:c.-485C>G 489085435 199876102 20110521_exome_216259_chr16_70557417 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 NHLBI-ESP 23450 NC_000016.9:g.70557421T>G;NM_012426.4:c.-481T>G 342432874 140271506 ESP2500-chr16-70557421 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 1000GENOMES 23450 NC_000016.9:g.70557458G>A;NM_012426.4:c.-444G>A 464652985 183738907 20101123_snps_10820215_chr16_70557458 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 23450 NC_000016.9:g.70557458G>A;NM_012426.4:c.-444G>A 491106697 183738907 20110521_exome_614495_chr16_70557458 5.00e-04 2012.02.22 2012.02.22 2011.09.17 2012.11.28 137 BUSHMAN 23450 NC_000016.9:g.70557530_70557531insT;NM_012426.4:c.-372_-371insT 193424967 112314608 BUSHMAN-chr16-69115031-69115031 2010.02.16 2010.02.16 2010.07.04 2011.07.08 137 DEVINE_LAB 23450 NC_000016.9:g.70557531_70557532insTT;NC_000016.9:g.70557531_70557532insTTT;NM_012426.4:c.-371_-370insTT;NM_012426.4:c.-371_-370insTTT 100477488 71949595 INDEL_GP36_2008a_2537832_0 2008.05.16 2008.05.16 2009.02.13 2012.05.16 137 DEVINE_LAB 23450 NC_000016.9:g.70557531_70557532insTT;NC_000016.9:g.70557531_70557532insTTT;NM_012426.4:c.-371_-370insTT;NM_012426.4:c.-371_-370insTTT 101334195 71949595 INDEL_GP36_2008a_2552554_0 2008.05.17 2008.05.17 2009.02.13 2012.05.16 137 DEVINE_LAB 23450 NC_000016.9:g.70557531_70557532insTT;NC_000016.9:g.70557531_70557532insTTT;NM_012426.4:c.-371_-370insTT;NM_012426.4:c.-371_-370insTTT 101728509 71949595 INDEL_GP36_2008a_1092481_0 2008.05.18 2008.05.18 2009.02.13 2012.05.16 137 BCMHGSC_JDW 23450 NC_000016.9:g.70557531_70557532insTT;NC_000016.9:g.70557531_70557532insTTT;NM_012426.4:c.-371_-370insTT;NM_012426.4:c.-371_-370insTTT 103589091 71949595 JWB-4052548 2008.06.06 2009.05.11 2009.02.13 2012.05.16 137 PJP 23450 NC_000016.9:g.70557531_70557532insTT;NC_000016.9:g.70557531_70557532insTTT;NM_012426.4:c.-371_-370insTT;NM_012426.4:c.-371_-370insTTT 294894048 71949595 DIP_331752_chr16_69115041 2011.01.22 2011.01.22 2009.02.13 2012.05.16 137 ABI 23450 NC_000016.9:g.70557542_70557543insTT;NC_000016.9:g.70557542_70557543insTTT;NM_012426.4:c.-360_-359insTT;NM_012426.4:c.-360_-359insTTT 40666838 35037671 hCV33821112 2005.07.17 2005.07.17 2006.03.14 2012.05.16 137 HGSV 23450 NC_000016.9:g.70557542_70557543insTT;NC_000016.9:g.70557542_70557543insTTT;NM_012426.4:c.-360_-359insTT;NM_012426.4:c.-360_-359insTTT 81654865 35037671 Cor18555_DIV_20070510.chr16_69115043-69115044_1 2007.12.01 2007.12.01 2006.03.14 2012.05.16 137 HGSV 23450 NC_000016.9:g.70557542_70557543insTT;NC_000016.9:g.70557542_70557543insTTT;NM_012426.4:c.-360_-359insTT;NM_012426.4:c.-360_-359insTTT 81790381 35037671 Cor18555_DIV_20070510.chr16_69115043-69115044_2 2007.12.01 2007.12.01 2006.03.14 2012.05.16 137 GMI 23450 NC_000016.9:g.70557542_70557543insTT;NM_012426.4:c.-360_-359insTT 289301731 201608928 GMI_AK_INDEL_975217 2010.12.29 2011.12.29 2012.05.04 2012.05.04 137 BL 23450 NC_000016.9:g.70557580delC;NM_012426.4:c.-322delC 256177913 149522100 SNP4636_16_69115080 2010.08.20 2010.08.20 2011.05.09 2011.07.08 137 1000GENOMES 23450 NC_000016.9:g.70557614T>G;NM_012426.4:c.-288T>G 339361654 138640371 20100804_snps_11005195_chr16_70557614 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 23450 NC_000016.9:g.70557655T>A;NM_012426.4:c.-247T>A 464652986 185549309 20101123_snps_10820216_chr16_70557655 3.20e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 23450 NC_000016.9:g.70557703C>T;NM_012426.4:c.-199C>T 464652987 190425992 20101123_snps_10820217_chr16_70557703 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 23450 NC_000016.9:g.70557743G>C;NM_012426.4:c.-159G>C 464652988 182259050 20101123_snps_10820218_chr16_70557743 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 CGAP-GAI 23450 NC_000016.9:g.70557761_70557762insA;NC_000016.9:g.70557761_70557762insG;NM_012426.4:c.-141_-140insA;NM_012426.4:c.-141_-140insG 16253044 11551674 1505586 2003.11.18 2003.11.22 2004.02.28 2011.07.08 137 1000GENOMES 23450 NC_000016.9:g.70557770G>T;NM_012426.4:c.-132G>T 464652989 186922156 20101123_snps_10820219_chr16_70557770 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 COMPLETE_GENOMICS 23450 NC_000016.9:g.70558010C>G;NM_012426.4:c.-71+179C>G 171392784 113687895 NA20431_36_chr16_69115511 2009.10.01 2009.10.01 2010.07.04 2011.09.09 137 YUSUKE 23450 NC_000016.9:g.70558039A>G;NM_012426.4:c.-71+208A>G 3229676 2288491 IMS-JST039760 4.44e-01 2001.09.05 2003.10.10 2001.09.28 2012.11.28 137 BCM_SSAHASNP 23450 NC_000016.9:g.70558039A>G;NM_012426.4:c.-71+208A>G 10815206 2288491 chr16.NT_010498.13_19279542 4.44e-01 2003.06.30 2006.10.25 2001.09.28 2012.11.28 137 WI_SSAHASNP 23450 NC_000016.9:g.70558039A>G;NM_012426.4:c.-71+208A>G 12356237 2288491 chr16.NT_010498.13_19279542 4.44e-01 2003.07.04 2003.10.10 2001.09.28 2012.11.28 137 PERLEGEN 23450 NC_000016.9:g.70558039A>G;NM_012426.4:c.-71+208A>G 23611883 2288491 afd0974489 4.44e-01 2004.08.20 2004.09.13 2001.09.28 2012.11.28 137 KYUGEN 23450 NC_000016.9:g.70558039A>G;NM_012426.4:c.-71+208A>G 35076009 2288491 QH14055 4.44e-01 2005.03.04 2006.11.02 2001.09.28 2012.11.28 137 KYUGEN 23450 NC_000016.9:g.70558039A>G;NM_012426.4:c.-71+208A>G 35076010 2288491 QH14125 4.44e-01 2005.03.04 2001.09.28 2012.11.28 137 ILLUMINA 23450 NC_000016.9:g.70558039A>G;NM_012426.4:c.-71+208A>G 66836537 2288491 HumanHap300v1.1_rs2288491 4.44e-01 2006.11.09 2006.11.09 2001.09.28 2012.11.28 137 ILLUMINA 23450 NC_000016.9:g.70558039A>G;NM_012426.4:c.-71+208A>G 67242638 2288491 HumanHap550v1.1_rs2288491 4.44e-01 2006.11.14 2006.11.14 2001.09.28 2012.11.28 137 ILLUMINA 23450 NC_000016.9:g.70558039A>G;NM_012426.4:c.-71+208A>G 67639444 2288491 HumanHap650Yv1.0_rs2288491 4.44e-01 2006.11.14 2006.11.14 2001.09.28 2012.11.28 137 ILLUMINA 23450 NC_000016.9:g.70558039A>G;NM_012426.4:c.-71+208A>G 70720983 2288491 HumanHap550v3.0__rs2288491 4.44e-01 2007.04.20 2008.03.30 2001.09.28 2012.11.28 137 ILLUMINA 23450 NC_000016.9:g.70558039A>G;NM_012426.4:c.-71+208A>G 71289369 2288491 HumanHap650Yv3.0_rs2288491 4.44e-01 2007.04.23 2007.04.23 2001.09.28 2012.11.28 137 ILLUMINA 23450 NC_000016.9:g.70558039A>G;NM_012426.4:c.-71+208A>G 75906957 2288491 ILMN_Human_1M_rs2288491 4.44e-01 2007.08.29 2007.08.29 2001.09.28 2012.11.28 137 ILLUMINA 23450 NC_000016.9:g.70558039A>G;NM_012426.4:c.-71+208A>G 79126884 2288491 HumanHap300v2.0_rs2288491 4.44e-01 2007.11.18 2007.11.18 2001.09.28 2012.11.28 137 KRIBB_YJKIM 23450 NC_000016.9:g.70558039A>G;NM_012426.4:c.-71+208A>G 84022939 2288491 KHS604792 4.44e-01 2007.12.06 2007.12.06 2001.09.28 2012.11.28 137 BGI 23450 NC_000016.9:g.70558039A>G;NM_012426.4:c.-71+208A>G 103304577 2288491 BGI_rs2288491 4.44e-01 2008.06.06 2009.06.18 2001.09.28 2012.11.28 137 1000GENOMES 23450 NC_000016.9:g.70558039A>G;NM_012426.4:c.-71+208A>G 109415096 2288491 CEU.trio.12.15.2008_3313368_chr16_69115540 4.44e-01 2008.12.16 2008.12.16 2001.09.28 2012.11.28 137 ILLUMINA 23450 NC_000016.9:g.70558039A>G;NM_012426.4:c.-71+208A>G 121987407 2288491 HumanCNV370v1_C_rs2288491 4.44e-01 2009.04.15 2009.04.15 2001.09.28 2012.11.28 137 ILLUMINA 23450 NC_000016.9:g.70558039A>G;NM_012426.4:c.-71+208A>G 153899855 2288491 Human610_Quadv1_B_rs2288491-127_T_R_1501720631 4.44e-01 2009.06.19 2009.06.20 2001.09.28 2012.11.28 137 ILLUMINA 23450 NC_000016.9:g.70558039A>G;NM_012426.4:c.-71+208A>G 159377687 2288491 Human660W-Quad_v1_A_rs2288491-128_T_R_1501720631 4.44e-01 2009.07.07 2009.07.07 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 23450 NC_000016.9:g.70558039A>G;NM_012426.4:c.-71+208A>G 168395984 2288491 NA07022_36_chr16_69115540 4.44e-01 2009.10.01 2009.10.01 2001.09.28 2012.11.28 137 ILLUMINA 23450 NC_000016.9:g.70558039A>G;NM_012426.4:c.-71+208A>G 171164066 2288491 HumanCNV370-Quadv3_C_rs2288491-127_T_R_1501720631 4.44e-01 2009.10.01 2009.10.03 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 23450 NC_000016.9:g.70558039A>G;NM_012426.4:c.-71+208A>G 171392794 2288491 NA20431_36_chr16_69115540 4.44e-01 2009.10.01 2009.10.01 2001.09.28 2012.11.28 137 ILLUMINA 23450 NC_000016.9:g.70558039A>G;NM_012426.4:c.-71+208A>G 173255596 2288491 Human1M-Duov3_B_rs2288491-127_T_R_1501720631 4.44e-01 2009.10.03 2009.10.03 2001.09.28 2012.11.28 137 BUSHMAN 23450 NC_000016.9:g.70558039A>G;NM_012426.4:c.-71+208A>G 201844789 2288491 BUSHMAN-chr16-69115539 4.44e-01 2010.03.08 2010.03.08 2001.09.28 2012.11.28 137 BCM-HGSC-SUB 23450 NC_000016.9:g.70558039A>G;NM_012426.4:c.-71+208A>G 207514261 2288491 BCM_CMT_1011-2804311 4.44e-01 2010.03.19 2010.03.19 2001.09.28 2012.11.28 137 1000GENOMES 23450 NC_000016.9:g.70558039A>G;NM_012426.4:c.-71+208A>G 227307006 2288491 pilot_1_YRI_9116689_chr16_69115540 4.44e-01 2010.04.22 2010.04.22 2001.09.28 2012.11.28 137 1000GENOMES 23450 NC_000016.9:g.70558039A>G;NM_012426.4:c.-71+208A>G 237071812 2288491 pilot_1_CEU_6676441_chr16_69115540 4.44e-01 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 1000GENOMES 23450 NC_000016.9:g.70558039A>G;NM_012426.4:c.-71+208A>G 243401984 2288491 pilot_1_CHB+JPT_5287061_chr16_69115540 4.44e-01 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 GMI 23450 NC_000016.9:g.70558039A>G;NM_012426.4:c.-71+208A>G 282579411 2288491 GMI_AK_SNP_6899828 4.44e-01 2010.12.16 2010.12.16 2001.09.28 2012.11.28 137 PJP 23450 NC_000016.9:g.70558039A>G;NM_012426.4:c.-71+208A>G 291865270 2288491 SNP_1371628_chr16_69115540 4.44e-01 2011.01.21 2011.01.21 2001.09.28 2012.11.28 137 1000GENOMES 23450 NC_000016.9:g.70558117G>A;NM_012426.4:c.-71+286G>A 339361655 141765515 20100804_snps_11005196_chr16_70558117 7.30e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 23450 NC_000016.9:g.70558144T>A;NM_012426.4:c.-71+313T>A 464652990 192448891 20101123_snps_10820220_chr16_70558144 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 23450 NC_000016.9:g.70558148T>C;NM_012426.4:c.-71+317T>C 339361656 146265156 20100804_snps_11005197_chr16_70558148 1.80e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 23450 NC_000016.9:g.70558168A>G;NM_012426.4:c.-71+337A>G 339361657 148476076 20100804_snps_11005198_chr16_70558168 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 COMPLETE_GENOMICS 23450 NC_000016.9:g.70558251T>C;NM_012426.4:c.-71+420T>C 168395994 112458130 NA07022_36_chr16_69115752 2.30e-03 2009.10.01 2009.10.01 2010.07.04 2012.11.28 137 1000GENOMES 23450 NC_000016.9:g.70558251T>C;NM_012426.4:c.-71+420T>C 339361658 112458130 20100804_snps_11005199_chr16_70558251 2.30e-03 2011.03.22 2011.03.22 2010.07.04 2012.11.28 137 1000GENOMES 23450 NC_000016.9:g.70558319G>A;NM_012426.4:c.-71+488G>A 109415100 72792805 CEU.trio.12.15.2008_3313369_chr16_69115820 4.10e-03 2008.12.16 2008.12.16 2009.02.14 2012.11.28 137 1000GENOMES 23450 NC_000016.9:g.70558319G>A;NM_012426.4:c.-71+488G>A 464652991 72792805 20101123_snps_10820221_chr16_70558319 4.10e-03 2011.07.20 2011.07.20 2009.02.14 2012.11.28 137 1000GENOMES 23450 NC_000016.9:g.70558405_70558406insT;NM_012426.4:c.-71+574_-71+575insT 327867126 142474196 CEU_chr16_69115906_indel 1.01e-02 2011.03.13 2011.04.03 2011.05.09 2012.11.28 137 1000GENOMES 23450 NC_000016.9:g.70558405_70558406insT;NM_012426.4:c.-71+574_-71+575insT 499129320 142474196 20110316_indels_chr16_70558405_70558406 1.01e-02 2012.03.19 2012.03.19 2011.05.09 2012.11.28 137 DEVINE_LAB 23450 NC_000016.9:g.70558495delC;NM_012426.4:c.-71+664delC 15218890 11339375 INDEL_GP34_WGS_341227 4.19e-01 2003.11.13 2003.11.22 2004.02.28 2012.11.28 137 ABI 23450 NC_000016.9:g.70558495delC;NM_012426.4:c.-71+664delC 40674754 11339375 hCV33821110 4.19e-01 2005.07.17 2005.07.17 2004.02.28 2012.11.28 137 HUMANGENOME_JCVI 23450 NC_000016.9:g.70558495delC;NM_012426.4:c.-71+664delC 95680944 11339375 1104685063537 4.19e-01 2008.03.22 2008.12.03 2004.02.28 2012.11.28 137 DEVINE_LAB 23450 NC_000016.9:g.70558495delC;NM_012426.4:c.-71+664delC 99522472 11339375 INDEL_GP36_2007a_696763_0 4.19e-01 2008.05.05 2008.05.05 2004.02.28 2012.11.28 137 DEVINE_LAB 23450 NC_000016.9:g.70558495delC;NM_012426.4:c.-71+664delC 99928136 11339375 INDEL_GP36_2007a_530606_0 4.19e-01 2008.05.06 2008.05.06 2004.02.28 2012.11.28 137 DEVINE_LAB 23450 NC_000016.9:g.70558495delC;NM_012426.4:c.-71+664delC 101524659 11339375 INDEL_GP36_2008a_530606_1 4.19e-01 2008.05.17 2008.05.17 2004.02.28 2012.11.28 137 DEVINE_LAB 23450 NC_000016.9:g.70558495delC;NM_012426.4:c.-71+664delC 101524662 11339375 INDEL_GP36_2008a_530606_2 4.19e-01 2008.05.17 2008.05.17 2004.02.28 2012.11.28 137 BUSHMAN 23450 NC_000016.9:g.70558495delC;NM_012426.4:c.-71+664delC 193424969 11339375 BUSHMAN-chr16-69115995-69115996 4.19e-01 2010.02.16 2010.02.16 2004.02.28 2012.11.28 137 BL 23450 NC_000016.9:g.70558495delC;NM_012426.4:c.-71+664delC 256177919 11339375 SNP4637_16_69115995 4.19e-01 2010.08.20 2010.08.20 2004.02.28 2012.11.28 137 GMI 23450 NC_000016.9:g.70558495delC;NM_012426.4:c.-71+664delC 288479113 11339375 GMI_NA10851_INDEL_272267 4.19e-01 2010.12.22 2010.12.22 2004.02.28 2012.11.28 137 GMI 23450 NC_000016.9:g.70558495delC;NM_012426.4:c.-71+664delC 289301732 11339375 GMI_AK_INDEL_975218 4.19e-01 2010.12.29 2011.12.29 2004.02.28 2012.11.28 137 PJP 23450 NC_000016.9:g.70558495delC;NM_012426.4:c.-71+664delC 294894049 11339375 DIP_331753_chr16_69115996 4.19e-01 2011.01.22 2011.01.22 2004.02.28 2012.11.28 137 PJP 23450 NC_000016.9:g.70558495delC;NM_012426.4:c.-71+664delC 294894050 11339375 DIP_331754_chr16_69115997 4.19e-01 2011.01.22 2011.01.22 2004.02.28 2012.11.28 137 1000GENOMES 23450 NC_000016.9:g.70558495delC;NM_012426.4:c.-71+664delC 327744759 11339375 JPTCHB_chr16_69115995_indel 4.19e-01 2011.03.12 2011.04.03 2004.02.28 2012.11.28 137 1000GENOMES 23450 NC_000016.9:g.70558495delC;NM_012426.4:c.-71+664delC 327867128 11339375 CEU_chr16_69115995_indel 4.19e-01 2011.03.13 2011.04.03 2004.02.28 2012.11.28 137 1000GENOMES 23450 NC_000016.9:g.70558495delC;NM_012426.4:c.-71+664delC 328200222 11339375 YRI_chr16_69115995_indel 4.19e-01 2011.03.13 2011.04.03 2004.02.28 2012.11.28 137 1000GENOMES 23450 NC_000016.9:g.70558495delC;NM_012426.4:c.-71+664delC 499129324 11339375 20110316_indels_chr16_70558494_70558494 4.19e-01 2012.03.19 2012.03.19 2004.02.28 2012.11.28 137 BL 23450 NC_000016.9:g.70558589_70558590insT;NM_012426.4:c.-71+758_-71+759insT 256177925 145175362 SNP4638_16_69116095 2010.08.20 2010.08.20 2011.05.09 2012.11.28 137 1000GENOMES 23450 NC_000016.9:g.70558589_70558590insT;NM_012426.4:c.-71+758_-71+759insT 499129328 145175362 20110316_indels_chr16_70558594_70558595 2012.03.19 2012.03.19 2011.05.09 2012.11.28 137 TSC-CSHL 23450 NC_000016.9:g.70558609T>C;NM_012426.4:c.-71+778T>C 3036206 2115430 TSC1118441 2001.06.07 2003.10.10 2001.06.15 2011.07.08 137 SC_JCM 23450 NC_000016.9:g.70558609T>C;NM_012426.4:c.-71+778T>C 6095301 2115430 NT_010478.10_4069630 2003.01.12 2003.10.10 2001.06.15 2011.07.08 137 BUSHMAN 23450 NC_000016.9:g.70558963C>A;NM_012426.4:c.-71+1132C>A 201844793 112154324 BUSHMAN-chr16-69116463 2010.03.08 2010.03.08 2010.07.04 2011.09.09 137 1000GENOMES 23450 NC_000016.9:g.70558963_70558965delCTC;NM_012426.4:c.-71+1132_-71+1134delCTC 499129332 200989653 20110316_indels_chr16_70558962_70558964 3.39e-02 2012.03.19 2012.03.19 2012.05.04 2012.11.28 137 BUSHMAN 23450 NC_000016.9:g.70558988A>C;NM_012426.4:c.-71+1157A>C 201844797 113845123 BUSHMAN-chr16-69116488 2010.03.08 2010.03.08 2010.07.04 2011.09.09 137 BUSHMAN 23450 NC_000016.9:g.70558999C>G;NM_012426.4:c.-71+1168C>G 201844802 112356672 BUSHMAN-chr16-69116499 5.00e-04 2010.03.08 2010.03.08 2010.07.04 2012.11.28 137 1000GENOMES 23450 NC_000016.9:g.70558999C>G;NM_012426.4:c.-71+1168C>G 464652992 112356672 20101123_snps_10820222_chr16_70558999 5.00e-04 2011.07.20 2011.07.20 2010.07.04 2012.11.28 137 1000GENOMES 23450 NC_000016.9:g.70559001C>T;NM_012426.4:c.-71+1170C>T 464652993 192819059 20101123_snps_10820223_chr16_70559001 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 SSAHASNP 23450 NC_000016.9:g.70559068G>A;NM_012426.4:c.-71+1237G>A 21365375 12934021 WGSA-200403-chr16.chr16.NT_010498.14_19280566 1.51e-02 2004.03.19 2004.03.19 2004.04.05 2012.11.28 137 1000GENOMES 23450 NC_000016.9:g.70559068G>A;NM_012426.4:c.-71+1237G>A 237071813 12934021 pilot_1_CEU_6676442_chr16_69116569 1.51e-02 2010.05.01 2010.05.01 2004.04.05 2012.11.28 137 PJP 23450 NC_000016.9:g.70559068G>A;NM_012426.4:c.-71+1237G>A 291865271 12934021 SNP_1371629_chr16_69116569 1.51e-02 2011.01.21 2011.01.21 2004.04.05 2012.11.28 137 HGSV 23450 NC_000016.9:g.70559151A>G;NM_012426.4:c.-71+1320A>G 83333411 58963621 Cor18555_SNV_20070510.chr16_69116652 4.44e-01 2007.12.04 2007.12.04 2007.12.15 2012.11.28 137 1000GENOMES 23450 NC_000016.9:g.70559151A>G;NM_012426.4:c.-71+1320A>G 109415105 58963621 CEU.trio.12.15.2008_3313370_chr16_69116652 4.44e-01 2008.12.16 2008.12.16 2007.12.15 2012.11.28 137 GMI 23450 NC_000016.9:g.70559151A>G;NM_012426.4:c.-71+1320A>G 157487942 58963621 GMI_SNP_73179797 4.44e-01 2009.06.25 2009.06.25 2007.12.15 2012.11.28 137 COMPLETE_GENOMICS 23450 NC_000016.9:g.70559151A>G;NM_012426.4:c.-71+1320A>G 168396005 58963621 NA07022_36_chr16_69116652 4.44e-01 2009.10.01 2009.10.01 2007.12.15 2012.11.28 137 COMPLETE_GENOMICS 23450 NC_000016.9:g.70559151A>G;NM_012426.4:c.-71+1320A>G 171392807 58963621 NA20431_36_chr16_69116652 4.44e-01 2009.10.01 2009.10.01 2007.12.15 2012.11.28 137 BUSHMAN 23450 NC_000016.9:g.70559151A>G;NM_012426.4:c.-71+1320A>G 201844805 58963621 BUSHMAN-chr16-69116651 4.44e-01 2010.03.08 2010.03.08 2007.12.15 2012.11.28 137 BCM-HGSC-SUB 23450 NC_000016.9:g.70559151A>G;NM_012426.4:c.-71+1320A>G 207625816 58963621 BCM_CMT_1011-2841191 4.44e-01 2010.03.19 2010.03.19 2007.12.15 2012.11.28 137 1000GENOMES 23450 NC_000016.9:g.70559151A>G;NM_012426.4:c.-71+1320A>G 227307007 58963621 pilot_1_YRI_9116690_chr16_69116652 4.44e-01 2010.04.22 2010.04.22 2007.12.15 2012.11.28 137 1000GENOMES 23450 NC_000016.9:g.70559151A>G;NM_012426.4:c.-71+1320A>G 237071814 58963621 pilot_1_CEU_6676443_chr16_69116652 4.44e-01 2010.05.01 2010.05.01 2007.12.15 2012.11.28 137 1000GENOMES 23450 NC_000016.9:g.70559151A>G;NM_012426.4:c.-71+1320A>G 243401985 58963621 pilot_1_CHB+JPT_5287062_chr16_69116652 4.44e-01 2010.05.01 2010.05.01 2007.12.15 2012.11.28 137 BL 23450 NC_000016.9:g.70559151A>G;NM_012426.4:c.-71+1320A>G 255786166 58963621 SNP73615_16_69116652 4.44e-01 2010.08.20 2010.08.20 2007.12.15 2012.11.28 137 GMI 23450 NC_000016.9:g.70559151A>G;NM_012426.4:c.-71+1320A>G 282579412 58963621 GMI_AK_SNP_6899829 4.44e-01 2010.12.16 2010.12.16 2007.12.15 2012.11.28 137 BL 23450 NC_000016.9:g.70559401_70559402delTG;NM_012426.4:c.-70-1089_-70-1088delTG 256177931 146007943 SNP4639_16_69116901 3.48e-02 2010.08.20 2010.08.20 2011.05.09 2012.11.28 137 1000GENOMES 23450 NC_000016.9:g.70559401_70559402delTG;NM_012426.4:c.-70-1089_-70-1088delTG 327867132 146007943 CEU_chr16_69116901_indel 3.48e-02 2011.03.13 2011.04.03 2011.05.09 2012.11.28 137 1000GENOMES 23450 ARRAY(0x3c557cc0) 499129336 146007943 20110316_indels_chr16_70559400_70559401 3.48e-02 2012.03.19 2012.03.19 2011.05.09 2012.11.28 137 # Report date: 2013.2.9, Gene: SF3B3 (23450), ss count: 162, rs count: 61.