Gene Symbol | Chromosome | Start | End | rs ID | Strand | NCBI ref | Observed | Class | Function | Submitter Count | Submitter | Frequency Count | Allele Frequency |
---|
ACADM | chr1 | 76217192 | 76217193 | rs77773255 | + | G | A/G | single | intron | 5 | 1000GENOMES,COMPLETE_GENOMICS,ENSEMBL,GMI,TISHKOFF, | 2 | 0.204941 |
ACADM | chr1 | 76217308 | 76217309 | rs137926698 | + | G | A/G | single | intron | 1 | 1000GENOMES, | 2 | 0.021120 |
ACADM | chr1 | 76217461 | 76217462 | rs1770514 | - | G | C/T | single | intron | 5 | 1000GENOMES,COMPLETE_GENOMICS,SC_JCM,SC_SNP,TISHKOFF, | 2 | 0.968836 |
ACADM | chr1 | 76217545 | 76217546 | rs80343164 | + | C | C/T | single | intron | 3 | 1000GENOMES,ILLUMINA,SSMP, | 2 | 0.974325 |
ACADM | chr1 | 76217785 | 76217786 | rs57443433 | + | G | A/C/G | single | intron | 4 | 1000GENOMES,HGSV,ILLUMINA-UK,TISHKOFF, | 2 | 0.038991 |
ACADM | chr1 | 76217822 | 76217823 | rs77071684 | + | A | A/G | single | intron | 2 | 1000GENOMES,ILLUMINA-UK, | 2 | 0.987615 |
ACADM | chr1 | 76217856 | 76217857 | rs1767459 | - | A | C/T | single | intron | 18 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HUMANGENOME_JCVI,PJP,SC_JCM,SC_SNP,SSAHASNP,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.869129 |
ACADM | chr1 | 76218182 | 76218183 | rs78537938 | + | C | A/C | single | intron | 1 | 1000GENOMES, | 2 | 0.019599 |
ACADM | chr1 | 76218318 | 76218319 | rs72686191 | + | G | G/T | single | intron | 7 | 1000GENOMES,COMPLETE_GENOMICS,ENSEMBL,GMI,PJP,SSMP,TISHKOFF, | 2 | 0.809241 |
ACADM | chr1 | 76218817 | 76218818 | rs10873685 | + | A | A/C | single | intron | 11 | 1000GENOMES,BCMHGSC_JDW,COMPLETE_GENOMICS,ENSEMBL,GMI,ILLUMINA,PERLEGEN,PJP,SC_SNP,SSMP,TISHKOFF, | 2 | 0.802236 |
ACADM | chr1 | 76218855 | 76218856 | rs17647357 | + | G | A/G | single | intron | 3 | 1000GENOMES,ILLUMINA,PERLEGEN, | 2 | 0.010345 |
ACADM | chr1 | 76218874 | 76218875 | rs1612097 | - | C | A/G | single | intron | 14 | 1000GENOMES,ABI,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,ILLUMINA-UK,PJP,SC_JCM,SC_SNP,SSMP,TISHKOFF, | 2 | 0.300924 |
ACADM | chr1 | 76219031 | 76219032 | rs12070736 | + | T | C/T | single | intron | 6 | 1000GENOMES,BUSHMAN,ILLUMINA,KRIBB_YJKIM,SC_SNP,TISHKOFF, | 2 | 0.065198 |
ACADM | chr1 | 76219111 | 76219112 | rs114332655 | + | T | C/T | single | intron | 2 | 1000GENOMES,SSMP, | 2 | 0.013502 |
ACADM | chr1 | 76219154 | 76219155 | rs1767458 | - | A | C/T | single | intron | 14 | 1000GENOMES,ABI,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,ILLUMINA-UK,PJP,SC_JCM,SC_SNP,SSMP,TISHKOFF, | 2 | 0.300121 |
ACADM | chr1 | 76219360 | 76219361 | rs74604587 | + | A | A/G | single | intron | 1 | 1000GENOMES, | 2 | 0.988676 |
ACADM | chr1 | 76219568 | 76219569 | rs2788654 | + | C | C/T | single | intron | 12 | 1000GENOMES,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,ILLUMINA-UK,PJP,SC_JCM,SSMP,TISHKOFF, | 2 | 0.678979 |
ACADM | chr1 | 76219625 | 76219626 | rs117870846 | + | G | G/T | single | intron | 1 | 1000GENOMES, | 2 | 0.981288 |
ACADM | chr1 | 76219634 | 76219635 | rs117352989 | + | C | C/T | single | intron | 2 | 1000GENOMES,GMI, | 2 | 0.986075 |
ACADM | chr1 | 76219772 | 76219773 | rs114697917 | + | G | A/G | single | intron | 2 | 1000GENOMES,BL, | 2 | 0.038729 |
ACADM | chr1 | 76219800 | 76219801 | rs1694419 | + | G | A/G | single | intron | 16 | 1000GENOMES,ABI,AFFY,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,ILLUMINA-UK,KRIBB_YJKIM,PERLEGEN,PJP,SC_JCM,SSMP,TISHKOFF, | 2 | 0.359257 |
ACADM | chr1 | 76219898 | 76219899 | rs79698935 | + | T | G/T | single | intron | 2 | 1000GENOMES,ILLUMINA-UK, | 2 | 0.038991 |
ACADM | chr1 | 76220036 | 76220037 | rs1631498 | - | T | A/G | single | intron | 18 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HUMANGENOME_JCVI,ILLUMINA-UK,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF, | 2 | 0.133030 |
ACADM | chr1 | 76220089 | 76220089 | rs200640060 | + | - | -/T | insertion | intron | 2 | 1000GENOMES,LUNTER, | 2 | 0.980716 |
ACADM | chr1 | 76220376 | 76220377 | rs1694420 | + | A | A/G | single | intron | 19 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,SC_JCM,SSAHASNP,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.134396 |
ACADM | chr1 | 76220385 | 76220386 | rs1694421 | + | A | A/G | single | intron | 17 | 1000GENOMES,ABI,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,SC_JCM,SSAHASNP,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.342309 |
ACADM | chr1 | 76220480 | 76220481 | rs117664019 | + | C | C/T | single | intron | 1 | 1000GENOMES, | 2 | 0.983029 |
ACADM | chr1 | 76220741 | 76220742 | rs1767457 | - | C | C/G | single | intron | 13 | 1000GENOMES,ABI,BCMHGSC_JDW,BL,GMI,HGSV,HUMANGENOME_JCVI,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.666972 |
ACADM | chr1 | 76220862 | 76220863 | rs186620478 | + | G | C/G | single | intron | 1 | 1000GENOMES, | 2 | 0.011938 |
ACADM | chr1 | 76220915 | 76220916 | rs143329510 | + | C | A/C | single | intron | 2 | 1000GENOMES,SSMP, | 2 | 0.012397 |
ACADM | chr1 | 76221126 | 76221127 | rs1770513 | - | T | A/G | single | intron | 12 | 1000GENOMES,ABI,BCMHGSC_JDW,BL,GMI,PJP,SC_JCM,SC_SNP,SSAHASNP,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.150781 |
ACADM | chr1 | 76221558 | 76221559 | rs141858378 | + | C | C/T | single | intron | 1 | 1000GENOMES, | 2 | 0.988062 |
ACADM | chr1 | 76221705 | 76221706 | rs1611823 | + | T | G/T | single | intron | 8 | 1000GENOMES,ABI,BCMHGSC_JDW,GMI,SC_JCM,SSMP,TISHKOFF,TSC-CSHL, | 2 | 0.316972 |
ACADM | chr1 | 76221732 | 76221733 | rs146261670 | + | G | C/G | single | intron | 2 | 1000GENOMES,TISHKOFF, | 2 | 0.038567 |
ACADM | chr1 | 76221850 | 76221851 | rs1613433 | + | A | A/G | single | intron | 8 | 1000GENOMES,BCMHGSC_JDW,ENSEMBL,GMI,SC_JCM,SC_SNP,TISHKOFF,WI_SSAHASNP, | 2 | 0.699817 |
ACADM | chr1 | 76221853 | 76221854 | rs77306298 | + | T | A/T | single | intron | 4 | 1000GENOMES,ENSEMBL,GMI,TISHKOFF, | 2 | 0.290367 |
ACADM | chr1 | 76221856 | 76221857 | rs1613437 | + | T | A/T | single | intron | 8 | 1000GENOMES,BCMHGSC_JDW,ENSEMBL,GMI,SC_JCM,SC_SNP,TISHKOFF,WI_SSAHASNP, | 2 | 0.291934 |
ACADM | chr1 | 76221869 | 76221870 | rs148757016 | + | C | A/C | single | intron | 1 | 1000GENOMES, | 2 | 0.013774 |
ACADM | chr1 | 76222073 | 76222074 | rs144672404 | + | G | A/G | single | intron | 3 | 1000GENOMES,GMI,SSMP, | 2 | 0.016070 |
ACADM | chr1 | 76222109 | 76222109 | rs143854056 | + | - | -/ACAT/TACA | insertion | intron | 3 | 1000GENOMES,LUNTER,PJP, | 2 | 0.575298 |
ACADM | chr1 | 76222341 | 76222342 | rs139835383 | + | G | A/G | single | intron | 1 | 1000GENOMES, | 2 | 0.015611 |
ACADM | chr1 | 76222530 | 76222531 | rs1767456 | - | T | A/G | single | intron | 11 | 1000GENOMES,ABI,BCMHGSC_JDW,BCM_SSAHASNP,ENSEMBL,GMI,HGSV,PJP,SC_JCM,SC_SNP,SSMP, | 2 | 0.688818 |
ACADM | chr1 | 76222639 | 76222640 | rs74339586 | + | G | A/G | single | intron | 4 | 1000GENOMES,ENSEMBL,GMI,SSMP, | 2 | 0.183945 |
ACADM | chr1 | 76222643 | 76222644 | rs1694422 | + | G | A/G | single | intron | 11 | 1000GENOMES,BCMHGSC_JDW,BCM_SSAHASNP,ENSEMBL,GMI,HUMANGENOME_JCVI,PJP,SC_JCM,SC_SNP,SSAHASNP,SSMP, | 2 | 0.792125 |
ACADM | chr1 | 76223189 | 76223190 | rs1694423 | + | G | A/G | single | intron | 5 | 1000GENOMES,ABI,SC_JCM,SEQUENOM,TISHKOFF, | 2 | 0.074771 |
ACADM | chr1 | 76223350 | 76223351 | rs1694424 | + | G | C/G | single | intron | 14 | 1000GENOMES,ABI,BCMHGSC_JDW,BCM_SSAHASNP,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,PJP,SC_JCM,SC_SNP,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.306673 |
ACADM | chr1 | 76223380 | 76223381 | rs1767455 | - | C | A/G | single | intron | 12 | 1000GENOMES,ABI,BCMHGSC_JDW,BCM_SSAHASNP,BUSHMAN,ENSEMBL,GMI,SC_JCM,SC_SNP,SEQUENOM,SSMP,WI_SSAHASNP, | 2 | 0.304487 |
ACADM | chr1 | 76223385 | 76223386 | rs1770512 | - | G | C/T | single | intron | 15 | 1000GENOMES,ABI,BCMHGSC_JDW,BCM_SSAHASNP,BL,BUSHMAN,CSHL-HAPMAP,ENSEMBL,GMI,PJP,SC_JCM,SC_SNP,SSAHASNP,SSMP,WI_SSAHASNP, | 2 | 0.173516 |
ACADM | chr1 | 76223435 | 76223436 | rs77230620 | + | A | A/G | single | intron | 3 | 1000GENOMES,ILLUMINA-UK,TISHKOFF, | 2 | 0.961009 |
ACADM | chr1 | 76223447 | 76223448 | rs12032051 | + | G | A/G | single | intron | 12 | 1000GENOMES,ABI,BGI,BL,COMPLETE_GENOMICS,ENSEMBL,GMI,HUMANGENOME_JCVI,PJP,SC_SNP,SSAHASNP,SSMP, | 2 | 0.299155 |
ACADM | chr1 | 76223657 | 76223658 | rs112040721 | + | T | -/T | deletion | intron | 7 | 1000GENOMES,BILGI_BIOE,BUSHMAN,GMI,LUNTER,SSMP,TISHKOFF, | 2 | 0.194495 |
ACADM | chr1 | 76223753 | 76223754 | rs35283569 | + | A | A/G | single | intron | 5 | 1000GENOMES,ABI,ENSEMBL,HUMANGENOME_JCVI,PJP, | 2 | 0.961962 |
ACADM | chr1 | 76223815 | 76223816 | rs1770511 | - | T | A/G | single | intron | 14 | 1000GENOMES,ABI,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,PJP,SC_JCM,SC_SNP,SSMP,TISHKOFF,TSC-CSHL,WI_SSAHASNP, | 2 | 0.686901 |
ACADM | chr1 | 76224009 | 76224010 | rs2185152 | - | C | A/G | single | intron | 11 | 1000GENOMES,ABI,BCMHGSC_JDW,COMPLETE_GENOMICS,ENSEMBL,GMI,SC_JCM,SC_SNP,SSMP,TISHKOFF,TSC-CSHL, | 2 | 0.197898 |
ACADM | chr1 | 76224183 | 76224184 | rs117395354 | + | T | C/T | single | intron | 3 | 1000GENOMES,ILLUMINA,SSMP, | 2 | 0.029156 |
ACADM | chr1 | 76224294 | 76224295 | rs57798497 | + | T | C/T | single | intron | 4 | 1000GENOMES,HGSV,ILLUMINA-UK,TISHKOFF, | 2 | 0.038991 |
ACADM | chr1 | 76224311 | 76224315 | rs145458102 | + | TCTG | -/TCTG | deletion | intron | 6 | 1000GENOMES,BL,GMI,LUNTER,PJP,SSMP, | 2 | 0.293388 |
ACADM | chr1 | 76224436 | 76224437 | rs61289992 | + | C | C/T | single | intron | 7 | 1000GENOMES,BCMHGSC_JDW,COMPLETE_GENOMICS,GMI,HGSV,SSMP,TISHKOFF, | 2 | 0.810897 |
ACADM | chr1 | 76224747 | 76224748 | rs61622554 | + | C | C/T | single | intron | 7 | 1000GENOMES,BCMHGSC_JDW,COMPLETE_GENOMICS,GMI,HGSV,SSMP,TISHKOFF, | 2 | 0.798993 |
ACADM | chr1 | 76225011 | 76225012 | rs114676914 | + | G | C/G | single | intron | 1 | 1000GENOMES, | 2 | 0.017422 |
ACADM | chr1 | 76225082 | 76225083 | rs17587071 | + | A | A/C | single | intron | 8 | 1000GENOMES,BCMHGSC_JDW,COMPLETE_GENOMICS,ENSEMBL,GMI,PERLEGEN,SSMP,TISHKOFF, | 2 | 0.808425 |
ACADM | chr1 | 76225413 | 76225414 | rs148809686 | + | T | G/T | single | intron | 1 | 1000GENOMES, | 2 | 0.015611 |
ACADM | chr1 | 76225632 | 76225633 | rs2788655 | + | A | A/C | single | intron | 15 | 1000GENOMES,BCM-HGSC-SUB,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HUMANGENOME_JCVI,PJP,SC_JCM,SC_SNP,SSAHASNP,SSMP,TISHKOFF, | 2 | 0.378366 |
ACADM | chr1 | 76225748 | 76225749 | rs111625745 | + | G | C/G | single | intron | 5 | 1000GENOMES,BCM-HGSC-SUB,BUSHMAN,SSMP,TISHKOFF, | 2 | 0.196699 |
ACADM | chr1 | 76225919 | 76225920 | rs143290997 | + | A | A/G | single | intron | 1 | 1000GENOMES, | 2 | 0.983471 |
ACADM | chr1 | 76226115 | 76226120 | rs199691649 | + | AAAAG | -/AAAAG | deletion | intron | 2 | 1000GENOMES,TISHKOFF, | 2 | 0.026630 |
ACADM | chr1 | 76226448 | 76226449 | rs11803965 | + | A | A/G | single | intron | 4 | 1000GENOMES,ABI,CSHL-HAPMAP,ENSEMBL, | 2 | 0.981937 |
ACADM | chr1 | 76226483 | 76226484 | rs11803967 | + | A | A/G | single | intron | 6 | 1000GENOMES,ABI,CSHL-HAPMAP,ENSEMBL,ILLUMINA,KRIBB_YJKIM, | 2 | 0.967204 |
ACADM | chr1 | 76226556 | 76226557 | rs79799650 | + | G | C/G | single | intron | 3 | 1000GENOMES,ILLUMINA-UK,TISHKOFF, | 2 | 0.038991 |
ACADM | chr1 | 76227277 | 76227278 | rs12073631 | + | A | A/G | single | intron | 6 | 1000GENOMES,BUSHMAN,CSHL-HAPMAP,PERLEGEN,SC_SNP,TISHKOFF, | 2 | 0.959109 |
ACADM | chr1 | 76227847 | 76227848 | rs1146585 | - | A | C/T | single | intron | 11 | 1000GENOMES,ABI,BCM_SSAHASNP,BUSHMAN,COMPLETE_GENOMICS,KWOK,PERLEGEN,SC_JCM,SC_SNP,TISHKOFF,TSC-CSHL, | 2 | 0.079446 |
ACADM | chr1 | 76227973 | 76227974 | rs1146586 | - | C | A/G | single | intron | 10 | 1000GENOMES,BCM_SSAHASNP,COMPLETE_GENOMICS,ILLUMINA,KRIBB_YJKIM,KWOK,SC_JCM,SC_SNP,TISHKOFF,TSC-CSHL, | 2 | 0.044997 |
ACADM | chr1 | 76227989 | 76227990 | rs75206453 | + | A | A/C | single | intron | 1 | 1000GENOMES, | 2 | 0.989440 |
ACADM | chr1 | 76252010 | 76252011 | rs1146634 | - | G | C/T | single | intron,near-gene-5 | 24 | 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,KWOK,NHLBI-ESP,PERLEGEN,PJP,SC_JCM,SC_SNP,SSMP,TISHKOFF,YUSUKE, | 2 | 0.496210 |
ACADM | chr1 | 76252182 | 76252183 | rs35505941 | + | G | A/G | single | intron,near-gene-5 | 7 | 1000GENOMES,ABI,BL,BUSHMAN,ENSEMBL,HUMANGENOME_JCVI,TISHKOFF, | 2 | 0.041171 |
ACADM | chr1 | 76252201 | 76252202 | rs35321712 | + | G | A/G | single | intron,near-gene-5 | 8 | 1000GENOMES,ABI,BL,BUSHMAN,ENSEMBL,HUMANGENOME_JCVI,ILLUMINA,TISHKOFF, | 2 | 0.045746 |
ACADM | chr1 | 76252334 | 76252335 | rs1146635 | - | A | C/T | single | intron,near-gene-5 | 25 | 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,KWOK,PERLEGEN,PJP,SC_JCM,SC_SNP,SSAHASNP,SSMP,TISHKOFF,YUSUKE, | 3 | 0.400262 |
ACADM | chr1 | 76252686 | 76252687 | rs1146636 | - | T | A/G | single | intron,near-gene-5 | 21 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,KWOK,PERLEGEN,PJP,SC_JCM,SC_SNP,SI_EXO,SSMP,TISHKOFF,YUSUKE, | 2 | 0.498488 |
ACADM | chr1 | 76253045 | 76253045 | rs3831900 | + | - | -/A | insertion | intron,near-gene-3,near-gene-5 | 9 | 1000GENOMES,ABI,BUSHMAN,GMI,LUNTER,PJP,SSMP,TISHKOFF,YUSUKE, | 2 | 0.792661 |
DHCR | chr1 | 55318107 | 55318108 | rs667222 | + | C | C/T | single | intron | 24 | 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BGI,BL,BUSHMAN,CSHL-HAPMAP,ENSEMBL,GMI,HGBASE,HGSV,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,KWOK,NHLBI-ESP,PJP,SC_JCM,SC_SNP,SSMP,TISHKOFF,TSC-CSHL,YUSUKE, | 2 | 0.608950 |
DHCR | chr1 | 55318345 | 55318346 | rs644697 | + | T | C/T | single | intron | 23 | 1000GENOMES,ABI,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,KWOK,PJP,SC_JCM,SC_SNP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,YUSUKE, | 2 | 0.455333 |
DHCR | chr1 | 55318856 | 55318856 | rs11428724 | + | - | -/G | insertion | intron | 10 | 1000GENOMES,ABI,BILGI_BIOE,DEVINE_LAB,GMI,HGSV,LUNTER,PJP,SSMP,TISHKOFF, | 2 | 0.595041 |
DHCR | chr1 | 55318861 | 55318862 | rs12409889 | + | G | G/T | single | intron | 4 | 1000GENOMES,ABI,CSHL-HAPMAP,ENSEMBL, | 2 | 0.984876 |
DHCR | chr1 | 55319007 | 55319008 | rs631749 | + | T | C/T | single | intron | 21 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,KWOK,PJP,SC_JCM,SC_SNP,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.461303 |
DHCR | chr1 | 55319427 | 55319428 | rs79064185 | + | C | C/T | single | intron | 2 | 1000GENOMES,COMPLETE_GENOMICS, | 2 | 0.988991 |
DHCR | chr1 | 55319935 | 55319936 | rs141309546 | + | A | -/A | deletion | intron | 7 | 1000GENOMES,BL,GMI,LUNTER,SSMP,TISHKOFF,WARNICH_LAB, | 2 | 0.142792 |
DHCR | chr1 | 55320560 | 55320561 | rs112359632 | + | C | C/T | single | intron | 3 | 1000GENOMES,BUSHMAN,TISHKOFF, | 2 | 0.988532 |
DHCR | chr1 | 55320793 | 55320794 | rs7527994 | + | A | A/G | single | intron | 17 | 1000GENOMES,ABI,BCMHGSC_JDW,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,KRIBB_YJKIM,PJP,SSAHASNP,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.400821 |
DHCR | chr1 | 55320868 | 55320869 | rs602811 | + | T | C/T | single | intron | 20 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,GMI,HGSV,HUMANGENOME_JCVI,KWOK,PJP,SC_JCM,SC_SNP,SSAHASNP,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.899406 |
DHCR | chr1 | 55320997 | 55320998 | rs113398911 | + | C | C/T | single | intron | 2 | 1000GENOMES,COMPLETE_GENOMICS, | 2 | 0.988532 |
DHCR | chr1 | 55321022 | 55321023 | rs10788990 | + | T | C/T | single | intron | 17 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,PJP,SC_SNP,SSAHASNP,SSMP,TISHKOFF, | 2 | 0.591967 |
DHCR | chr1 | 55321375 | 55321376 | rs115413257 | + | T | C/T | single | intron | 3 | 1000GENOMES,ILLUMINA,TISHKOFF, | 2 | 0.034843 |
DHCR | chr1 | 55321502 | 55321503 | rs2278191 | + | C | C/T | single | intron | 20 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,KRIBB_YJKIM,PJP,SC_SNP,SSAHASNP,SSMP,TISHKOFF,YUSUKE, | 2 | 0.452142 |
DHCR | chr1 | 55321550 | 55321551 | rs2278192 | + | G | A/G | single | intron | 20 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,PJP,SC_SNP,SSAHASNP,SSMP,TISHKOFF,YUSUKE, | 2 | 0.594718 |
DHCR | chr1 | 55321682 | 55321683 | rs112157071 | + | G | A/G | single | intron | 3 | 1000GENOMES,BUSHMAN,TISHKOFF, | 2 | 0.011009 |
DHCR | chr1 | 55321784 | 55321785 | rs77555020 | + | G | C/G | single | intron | 2 | 1000GENOMES,SSMP, | 2 | 0.017798 |
DHCR | chr1 | 55322235 | 55322236 | rs586108 | + | T | C/T | single | intron | 13 | 1000GENOMES,BCMHGSC_JDW,BL,ENSEMBL,GMI,HGSV,KWOK,PJP,SC_JCM,SC_SNP,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.402383 |
DHCR | chr1 | 55322289 | 55322290 | rs74953488 | + | G | C/G | single | intron | 3 | 1000GENOMES,BUSHMAN,TISHKOFF, | 2 | 0.010092 |
DHCR | chr1 | 55322690 | 55322691 | rs3214534 | + | A | -/A | deletion | intron | 7 | 1000GENOMES,BILGI_BIOE,GMI,LUNTER,SSMP,TISHKOFF,YUSUKE, | 2 | 0.253444 |
DHCR | chr1 | 55322741 | 55322742 | rs13374503 | + | A | A/C | single | intron | 3 | 1000GENOMES,SSMP,WUGSC_SSAHASNP, | 2 | 0.986945 |
DHCR | chr1 | 55322867 | 55322868 | rs115721876 | + | G | A/G | single | intron | 3 | 1000GENOMES,ILLUMINA,SSMP, | 2 | 0.020888 |
DHCR | chr1 | 55323435 | 55323436 | rs71637874 | + | C | A/C | single | intron | 5 | 1000GENOMES,COMPLETE_GENOMICS,ENSEMBL,HUMANGENOME_JCVI,ILLUMINA, | 2 | 0.023352 |
DHCR | chr1 | 55323537 | 55323538 | rs112246846 | + | A | A/G | single | intron | 3 | 1000GENOMES,BUSHMAN,TISHKOFF, | 2 | 0.984404 |
DHCR | chr1 | 55323808 | 55323809 | rs12117617 | + | G | A/G | single | intron | 6 | 1000GENOMES,BGI,GMI,SC_SNP,SSMP,TISHKOFF, | 2 | 0.066998 |
DHCR | chr1 | 55323837 | 55323838 | rs6676774 | + | G | A/G | single | intron | 18 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HUMANGENOME_JCVI,ILLUMINA,KRIBB_YJKIM,PJP,SSAHASNP,SSMP,TISHKOFF, | 2 | 0.437813 |
DHCR | chr1 | 55324123 | 55324124 | rs115251523 | + | C | C/G | single | intron | 2 | 1000GENOMES,TISHKOFF, | 2 | 0.987805 |
DHCR | chr1 | 55324149 | 55324150 | rs12133305 | + | C | C/T | single | intron | 8 | 1000GENOMES,AFFY,BL,COMPLETE_GENOMICS,GMI,KRIBB_YJKIM,SC_SNP,SSMP, | 2 | 0.917828 |
DHCR | chr1 | 55324371 | 55324372 | rs2288314 | + | G | A/G | single | intron | 7 | 1000GENOMES,COMPLETE_GENOMICS,GMI,HGSV,SSMP,TISHKOFF,YUSUKE, | 2 | 0.124084 |
DHCR | chr1 | 55324868 | 55324869 | rs13373956 | + | G | G/T | single | intron | 6 | 1000GENOMES,COMPLETE_GENOMICS,ILLUMINA,SSMP,TISHKOFF,WUGSC_SSAHASNP, | 2 | 0.947022 |
DHCR | chr1 | 55324872 | 55324873 | rs2288315 | + | G | C/G | single | intron | 21 | 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,KRIBB_YJKIM,PJP,SSAHASNP,SSMP,TISHKOFF,WI_SSAHASNP,YUSUKE, | 2 | 0.931660 |
DHCR | chr1 | 55324964 | 55324966 | rs139707914 | + | GA | -/GA | deletion | intron | 3 | 1000GENOMES,LUNTER,SSMP, | 2 | 0.062443 |
DHCR | chr1 | 55325240 | 55325241 | rs12562548 | + | G | G/T | single | intron | 6 | 1000GENOMES,CSHL-HAPMAP,ENSEMBL,GMI,SSAHASNP,SSMP, | 2 | 0.974312 |
DHCR | chr1 | 55325308 | 55325309 | rs12067125 | + | T | G/T | single | intron | 6 | 1000GENOMES,BL,COMPLETE_GENOMICS,GMI,SC_SNP,SSMP, | 2 | 0.082569 |
DHCR | chr1 | 55325487 | 55325488 | rs57777659 | + | T | C/T | single | intron | 10 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,SSMP,TISHKOFF, | 2 | 0.302060 |
DHCR | chr1 | 55325793 | 55325794 | rs11206455 | + | T | C/T | single | intron | 20 | 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,KRIBB_YJKIM,PERLEGEN,PJP,SC_SNP,SSAHASNP,SSMP,TISHKOFF, | 2 | 0.339248 |
DHCR | chr1 | 55325863 | 55325864 | rs113419309 | + | C | A/C | single | intron | 3 | 1000GENOMES,COMPLETE_GENOMICS,ILLUMINA, | 2 | 0.014679 |
DHCR | chr1 | 55326074 | 55326075 | rs78842553 | + | A | A/G | single | intron | 3 | 1000GENOMES,COMPLETE_GENOMICS,ILLUMINA, | 2 | 0.969266 |
DHCR | chr1 | 55326139 | 55326140 | rs6588533 | + | C | C/G | single | intron | 13 | 1000GENOMES,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,PJP,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.571648 |
DHCR | chr1 | 55326344 | 55326345 | rs4927168 | + | A | A/C | single | intron | 23 | 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA,KRIBB_YJKIM,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.216525 |
DHCR | chr1 | 55326410 | 55326411 | rs113543107 | + | C | C/G | single | intron | 2 | 1000GENOMES,COMPLETE_GENOMICS, | 2 | 0.987615 |
DHCR | chr1 | 55326424 | 55326425 | rs4927169 | + | G | C/G | single | intron | 10 | 1000GENOMES,BGI,BL,CSHL-HAPMAP,ENSEMBL,HUMANGENOME_JCVI,PJP,SSAHASNP,SSMP,WI_SSAHASNP, | 2 | 0.428311 |
DHCR | chr1 | 55326425 | 55326426 | rs4927170 | + | G | A/G | single | intron | 15 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,PJP,SSAHASNP,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.778134 |
DHCR | chr1 | 55326465 | 55326466 | rs146621180 | + | G | A/G | single | intron | 1 | 1000GENOMES, | 2 | 0.022957 |
DHCR | chr1 | 55326485 | 55326486 | rs4927171 | + | G | A/G | single | intron | 14 | 1000GENOMES,ABI,BCM-HGSC-SUB,BL,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HUMANGENOME_JCVI,PJP,SSAHASNP,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.450775 |
DHCR | chr1 | 55326519 | 55326520 | rs111510955 | + | G | A/G | single | intron | 4 | 1000GENOMES,COMPLETE_GENOMICS,SSMP,TISHKOFF, | 2 | 0.039908 |
DHCR | chr1 | 55326585 | 55326586 | rs10888882 | + | G | A/G | single | intron | 12 | 1000GENOMES,ABI,BCM-HGSC-SUB,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,HUMANGENOME_JCVI,PJP,SC_SNP,SSAHASNP,SSMP,TISHKOFF, | 2 | 0.351869 |
DHCR | chr1 | 55326719 | 55326720 | rs6675891 | + | A | A/G | single | intron | 15 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,PJP,SSMP,TISHKOFF, | 2 | 0.630306 |
DHCR | chr1 | 55326932 | 55326933 | rs6676123 | + | A | A/G | single | intron | 18 | 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,ILLUMINA,KRIBB_YJKIM,PJP,SSMP,TISHKOFF, | 2 | 0.639443 |
DHCR | chr1 | 55327143 | 55327144 | rs78647471 | + | C | C/G | single | intron | 5 | 1000GENOMES,COMPLETE_GENOMICS,ILLUMINA,SSMP,TISHKOFF, | 2 | 0.934404 |
DHCR | chr1 | 55327366 | 55327367 | rs72673883 | + | C | A/C | single | intron | 5 | 1000GENOMES,GMI,ILLUMINA,SSMP,TISHKOFF, | 2 | 0.068238 |
DHCR | chr1 | 55327401 | 55327402 | rs602671 | + | A | A/C | single | intron | 18 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,KWOK,PJP,SC_JCM,SC_SNP,SSMP,TISHKOFF, | 2 | 0.403381 |
DHCR | chr1 | 55327491 | 55327492 | rs6666716 | + | C | C/T | single | intron | 18 | 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,GMI,HGSV,ILLUMINA,KRIBB_YJKIM,PERLEGEN,PJP,SSMP,TISHKOFF, | 2 | 0.450642 |
DHCR | chr1 | 55327549 | 55327550 | rs72901600 | + | A | A/G | single | intron | 2 | 1000GENOMES,COMPLETE_GENOMICS, | 2 | 0.988991 |
DHCR | chr1 | 55327554 | 55327555 | rs74606125 | + | C | C/T | single | intron | 2 | 1000GENOMES,ILLUMINA, | 2 | 0.988676 |
DHCR | chr1 | 55327588 | 55327589 | rs72903503 | + | C | C/T | single | intron | 6 | 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,GMI,SSMP,TISHKOFF, | 2 | 0.879579 |
DHCR | chr1 | 55327872 | 55327876 | rs111480286 | + | ACAG | -/ACAG | deletion | intron | 5 | 1000GENOMES,BUSHMAN,GMI,LUNTER,SSMP, | 2 | 0.120183 |
DHCR | chr1 | 55327939 | 55327940 | rs12025718 | + | T | C/T | single | intron | 12 | 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BUSHMAN,COMPLETE_GENOMICS,GMI,KRIBB_YJKIM,PJP,SC_SNP,SSMP,TISHKOFF, | 2 | 0.289531 |
DHCR | chr1 | 55328054 | 55328055 | rs34292018 | + | A | A/G | single | intron | 7 | 1000GENOMES,ABI,BUSHMAN,COMPLETE_GENOMICS,GMI,SSMP,TISHKOFF, | 2 | 0.945055 |
DHCR | chr1 | 55328101 | 55328102 | rs675252 | + | T | C/T | single | intron | 21 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA,KWOK,PJP,SC_JCM,SC_SNP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL, | 2 | 0.489517 |
DHCR | chr1 | 55328147 | 55328148 | rs675320 | + | T | C/T | single | intron | 8 | 1000GENOMES,ABI,GMI,KWOK,SC_JCM,SC_SNP,SSMP,TSC-CSHL, | 2 | 0.042406 |
DHCR | chr1 | 55328150 | 55328151 | rs79460737 | + | C | C/T | single | intron | 6 | 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,GMI,SSMP,TISHKOFF, | 2 | 0.880037 |
DHCR | chr1 | 55328256 | 55328257 | rs72903506 | + | T | A/T | single | intron | 6 | 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,GMI,SSMP,TISHKOFF, | 2 | 0.053114 |
DHCR | chr1 | 55328564 | 55328565 | rs113518014 | + | T | C/T | single | intron | 5 | 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,SSMP,TISHKOFF, | 2 | 0.048579 |
DHCR | chr1 | 55328566 | 55328567 | rs187282498 | + | G | C/G | single | intron | 1 | 1000GENOMES, | 2 | 0.018825 |
DHCR | chr1 | 55328603 | 55328604 | rs7524913 | + | C | C/T | single | intron | 5 | 1000GENOMES,COMPLETE_GENOMICS,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.883135 |
DHCR | chr1 | 55328625 | 55328626 | rs7536507 | + | A | A/G | single | intron | 5 | 1000GENOMES,COMPLETE_GENOMICS,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.878552 |
DHCR | chr1 | 55328682 | 55328683 | rs148472031 | + | A | A/C | single | intron | 2 | 1000GENOMES,SSMP, | 2 | 0.974747 |
DHCR | chr1 | 55329104 | 55329105 | rs582222 | + | T | C/T | single | intron | 21 | 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HUMANGENOME_JCVI,KWOK,PJP,SC_JCM,SC_SNP,SSMP,TISHKOFF,TSC-CSHL,WI_SSAHASNP, | 2 | 0.613947 |
DHCR | chr1 | 55329106 | 55329107 | rs11206456 | + | C | C/T | single | intron | 4 | 1000GENOMES,BL,GMI,SC_SNP, | 2 | 0.916391 |
DHCR | chr1 | 55329500 | 55329501 | rs4927173 | + | C | C/T | single | intron | 19 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,PJP,SSAHASNP,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.043676 |
DHCR | chr1 | 55329518 | 55329519 | rs72903513 | + | C | C/T | single | intron | 6 | 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,GMI,SSMP,TISHKOFF, | 2 | 0.880495 |
DHCR | chr1 | 55329731 | 55329732 | rs72903516 | + | G | G/T | single | intron | 5 | 1000GENOMES,COMPLETE_GENOMICS,GMI,SSMP,TISHKOFF, | 2 | 0.897342 |
DHCR | chr1 | 55330141 | 55330142 | rs114819441 | + | C | C/G | single | intron | 1 | 1000GENOMES, | 2 | 0.985640 |
DHCR | chr1 | 55330337 | 55330338 | rs149084152 | + | A | -/A | deletion | intron | 4 | 1000GENOMES,LUNTER,SSMP,TISHKOFF, | 2 | 0.065657 |
DHCR | chr1 | 55330549 | 55330550 | rs72903518 | + | G | C/G | single | intron | 6 | 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,GMI,SSMP,TISHKOFF, | 2 | 0.055352 |
DHCR | chr1 | 55330629 | 55330630 | rs17111142 | + | C | C/G | single | intron | 8 | 1000GENOMES,AFFY,COMPLETE_GENOMICS,ILLUMINA,KRIBB_YJKIM,PERLEGEN,SSMP,TISHKOFF, | 2 | 0.920440 |
DHCR | chr1 | 55330705 | 55330706 | rs74774143 | + | C | C/G | single | intron | 4 | 1000GENOMES,COMPLETE_GENOMICS,SSMP,TISHKOFF, | 2 | 0.933945 |
DHCR | chr1 | 55330755 | 55330756 | rs2303533 | + | G | C/G | single | intron | 23 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,KRIBB_YJKIM,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WI_SSAHASNP,YUSUKE, | 3 | 0.356728 |
DHCR | chr1 | 55330965 | 55330966 | rs611057 | + | T | C/T | single | intron | 28 | 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,KWOK,NHLBI-ESP,PJP,SC_JCM,SC_SNP,SSAHASNP,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.986088 |
DHCR | chr1 | 55331640 | 55331641 | rs80336900 | + | G | A/G | single | intron | 3 | 1000GENOMES,GMI,SSMP, | 2 | 0.043951 |
DHCR | chr1 | 55332002 | 55332003 | rs6677915 | + | T | C/T | single | intron | 7 | 1000GENOMES,BCM_SSAHASNP,BL,COMPLETE_GENOMICS,GMI,ILLUMINA,SSMP, | 2 | 0.082110 |
DHCR | chr1 | 55332084 | 55332085 | rs116871890 | + | G | A/G | single | intron | 2 | 1000GENOMES,SSMP, | 2 | 0.040905 |
DHCR | chr1 | 55332342 | 55332343 | rs11366405 | + | C | -/C | deletion | intron | 10 | 1000GENOMES,ABI,BL,DEVINE_LAB,GMI,HUMANGENOME_JCVI,LUNTER,PJP,SSMP,TISHKOFF, | 2 | 0.364679 |
DHCR | chr1 | 55332455 | 55332456 | rs74502762 | + | G | A/G | single | intron | 2 | 1000GENOMES,ILLUMINA, | 2 | 0.028746 |
DHCR | chr1 | 55332471 | 55332471 | rs200224855 | + | - | -/T | insertion | intron | 1 | 1000GENOMES, | 2 | 0.988062 |
DHCR | chr1 | 55332535 | 55332536 | rs628508 | + | C | C/G | single | intron | 23 | 1000GENOMES,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,KWOK,PJP,SC_JCM,SC_SNP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WI_SSAHASNP, | 2 | 0.070941 |
DHCR | chr1 | 55332773 | 55332774 | rs640011 | + | T | C/T | single | intron | 22 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,KWOK,PJP,SC_JCM,SC_SNP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WI_SSAHASNP, | 2 | 1.000000 |
DHCR | chr1 | 55332799 | 55332800 | rs640036 | + | G | C/G | single | intron | 6 | 1000GENOMES,ABI,KWOK,SC_JCM,SC_SNP,TSC-CSHL, | 2 | 0.017422 |
DHCR | chr1 | 55332906 | 55332907 | rs78167420 | + | G | G/T | single | intron | 2 | 1000GENOMES,COMPLETE_GENOMICS, | 2 | 0.968807 |
DHCR | chr1 | 55333134 | 55333135 | rs2059690 | + | G | G/T | single | intron | 22 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,KRIBB_YJKIM,PJP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WI_SSAHASNP,YUSUKE, | 2 | 0.485441 |
DHCR | chr1 | 55333212 | 55333213 | rs12129816 | + | A | A/G | single | intron | 6 | 1000GENOMES,COMPLETE_GENOMICS,GMI,SC_SNP,SSMP,TISHKOFF, | 2 | 0.911927 |
DHCR | chr1 | 55333452 | 55333453 | rs642737 | + | A | A/G | single | intron | 22 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,KWOK,PJP,SC_JCM,SC_SNP,SSMP,TISHKOFF,WI_SSAHASNP,YUSUKE, | 2 | 0.436316 |
DHCR | chr1 | 55333524 | 55333525 | rs600491 | + | C | C/T | single | intron | 20 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,ILLUMINA,KWOK,PERLEGEN,PJP,SC_JCM,SC_SNP,SSMP,TISHKOFF,WI_SSAHASNP,YUSUKE, | 2 | 0.633751 |
DHCR | chr1 | 55333599 | 55333600 | rs2278193 | + | G | A/G | single | intron | 16 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HUMANGENOME_JCVI,PJP,SSMP,TISHKOFF,WI_SSAHASNP,YUSUKE, | 2 | 0.364840 |
DHCR | chr1 | 55333617 | 55333618 | rs10449751 | + | C | C/T | single | intron | 4 | 1000GENOMES,GMI,SC_SNP,SSMP, | 2 | 0.957781 |
DHCR | chr1 | 55333783 | 55333784 | rs2278194 | + | T | C/T | single | intron | 5 | 1000GENOMES,COMPLETE_GENOMICS,SSMP,TISHKOFF,YUSUKE, | 2 | 0.058716 |
DHCR | chr1 | 55333864 | 55333865 | rs12137364 | + | C | C/T | single | intron | 8 | 1000GENOMES,BL,COMPLETE_GENOMICS,GMI,HGSV,ILLUMINA,SC_SNP,SSMP, | 2 | 0.918040 |
DHCR | chr1 | 55333939 | 55333940 | rs612551 | + | G | A/G | single | intron | 4 | 1000GENOMES,KWOK,SC_JCM,SC_SNP, | 2 | 0.015151 |
DHCR | chr1 | 55333998 | 55333999 | rs112673016 | + | C | C/T | single | intron | 2 | 1000GENOMES,COMPLETE_GENOMICS, | 2 | 0.987615 |
DHCR | chr1 | 55334000 | 55334001 | rs190934192 | + | G | A/G | single | intron | 1 | 1000GENOMES, | 2 | 0.015151 |
DHCR | chr1 | 55334099 | 55334100 | rs182848559 | + | G | A/G | single | intron | 2 | 1000GENOMES,SSMP, | 2 | 0.016070 |
DHCR | chr1 | 55334213 | 55334214 | rs2288316 | + | A | A/C | single | intron | 7 | 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,GMI,SSMP,TISHKOFF,YUSUKE, | 2 | 0.953712 |
DHCR | chr1 | 55334344 | 55334345 | rs6695847 | + | G | A/G | single | intron | 8 | 1000GENOMES,BCM_SSAHASNP,COMPLETE_GENOMICS,GMI,ILLUMINA,ILLUMINA-UK,SC_SNP,SSMP, | 2 | 0.445971 |
DHCR | chr1 | 55334348 | 55334349 | rs6687489 | + | T | C/T | single | intron | 7 | 1000GENOMES,BCM_SSAHASNP,COMPLETE_GENOMICS,GMI,ILLUMINA-UK,SC_SNP,SSMP, | 2 | 0.441392 |
DHCR | chr1 | 55334382 | 55334383 | rs142241349 | + | G | -/G | deletion | intron | 2 | 1000GENOMES,BILGI_BIOE, | 2 | 0.379706 |
DHCR | chr1 | 55334388 | 55334389 | rs1180860 | + | T | C/T | single | intron | 6 | 1000GENOMES,COMPLETE_GENOMICS,GMI,HGSV,KWOK,WI_SSAHASNP, | 2 | 0.423993 |
DHCR | chr1 | 55334567 | 55334568 | rs615203 | + | C | C/T | single | intron | 7 | 1000GENOMES,GMI,KWOK,SC_JCM,SC_SNP,SSMP,TISHKOFF, | 2 | 0.956382 |
DHCR | chr1 | 55334694 | 55334695 | rs626079 | + | G | A/G | single | intron | 20 | 1000GENOMES,ABI,BCMHGSC_JDW,BCM_SSAHASNP,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,KWOK,PJP,SC_JCM,SC_SNP,SSAHASNP,SSMP,TISHKOFF,WI_SSAHASNP,YUSUKE, | 2 | 0.552920 |
DHCR | chr1 | 55334797 | 55334801 | rs140670122 | + | ACAA | -/ACAA | deletion | intron | 2 | 1000GENOMES,LUNTER, | 2 | 0.011019 |
DHCR | chr1 | 55334890 | 55334891 | rs2288318 | + | C | A/C | single | intron | 4 | 1000GENOMES,GMI,SSMP,YUSUKE, | 2 | 0.042219 |
DHCR | chr1 | 55335301 | 55335302 | rs671701 | + | T | C/T | single | intron | 20 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,GMI,HGSV,ILLUMINA-UK,KWOK,PJP,SC_JCM,SC_SNP,SSMP,TISHKOFF,WI_SSAHASNP,YUSUKE, | 2 | 0.466210 |
DHCR | chr1 | 55335708 | 55335709 | rs673541 | + | G | A/G | single | intron | 17 | 1000GENOMES,ABI,BCMHGSC_JDW,BGI,BL,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,ILLUMINA-UK,KWOK,PJP,SC_JCM,SC_SNP,SSAHASNP,SSMP, | 2 | 0.555100 |
DHCR | chr1 | 55335742 | 55335743 | rs113387019 | + | T | A/T | single | intron | 3 | 1000GENOMES,BUSHMAN,GMI, | 2 | 0.059633 |
DHCR | chr1 | 55335742 | 55335743 | rs201857004 | + | T | -/T | deletion | intron | 1 | 1000GENOMES, | 2 | 0.050964 |
DHCR | chr1 | 55335766 | 55335767 | rs111257553 | + | C | C/T | single | intron | 4 | 1000GENOMES,COMPLETE_GENOMICS,SSMP,TISHKOFF, | 2 | 0.927523 |
DHCR | chr1 | 55336096 | 55336097 | rs11206457 | + | T | A/T | single | intron | 16 | 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BGI,BL,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,KRIBB_YJKIM,SC_SNP,SSAHASNP,SSMP,TISHKOFF, | 2 | 0.340523 |
DHCR | chr1 | 55336166 | 55336167 | rs685920 | + | A | A/G | single | intron | 17 | 1000GENOMES,ABI,BCM-HGSC-SUB,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,KWOK,SC_JCM,SC_SNP,SSAHASNP,SSMP,TISHKOFF, | 2 | 0.604353 |
DHCR | chr1 | 55336388 | 55336389 | rs687146 | + | A | A/G | single | intron | 16 | 1000GENOMES,ABI,BCM-HGSC-SUB,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,KWOK,SC_JCM,SSMP,TISHKOFF, | 2 | 0.583029 |
DHCR | chr1 | 55336949 | 55336950 | rs608458 | + | C | C/G | single | intron | 21 | 1000GENOMES,AFFY,BCM-HGSC-SUB,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,KRIBB_YJKIM,KWOK,PERLEGEN,PJP,SC_JCM,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.460327 |
DHCR | chr1 | 55337314 | 55337315 | rs2303534 | + | C | C/G | single | intron | 13 | 1000GENOMES,AFFY,BCM_SSAHASNP,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,GMI,ILLUMINA,KRIBB_YJKIM,NHLBI-ESP,SSMP,TISHKOFF,YUSUKE, | 2 | 0.956835 |