Gene Symbol | Chromosome | Start | End | rs ID | Strand | NCBI ref | Observed | Class | Function | Submitter Count | Submitter | Frequency Count | Allele Frequency |
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COQ6 | chr14 | 74416944 | 74416945 | rs17552038 | + | G | C/G | single | intron,near-gene-5,untranslated-5 | 12 | 1000GENOMES,ABI,BCM-HGSC-SUB,BL,COMPLETE_GENOMICS,ENSEMBL,GMI,HUMANGENOME_JCVI,KYUGEN,PJP,SI_EXO,SSMP, | 2 | 0.107045 |
COQ6 | chr14 | 74417208 | 74417209 | rs60369619 | + | C | C/T | single | intron,near-gene-5 | 6 | 1000GENOMES,BUSHMAN,HGSV,ILLUMINA,NHLBI-ESP,TISHKOFF, | 2 | 0.984876 |
COQ6 | chr14 | 74417487 | 74417488 | rs76260393 | + | T | C/T | single | intron,near-gene-5 | 2 | 1000GENOMES,TISHKOFF, | 2 | 0.016986 |
COQ6 | chr14 | 74417554 | 74417555 | rs112218167 | + | T | G/T | single | intron,near-gene-5 | 3 | 1000GENOMES,COMPLETE_GENOMICS,ILLUMINA, | 2 | 0.051376 |
COQ6 | chr14 | 74417597 | 74417598 | rs11850082 | + | C | A/C | single | intron,near-gene-5 | 4 | 1000GENOMES,ABI,CSHL-HAPMAP,ENSEMBL, | 2 | 0.014207 |
COQ6 | chr14 | 74417608 | 74417609 | rs59892091 | + | T | C/T | single | intron,near-gene-5 | 4 | 1000GENOMES,GMI,HGSV,SSMP, | 2 | 0.090157 |
COQ6 | chr14 | 74417649 | 74417650 | rs11850094 | + | C | C/T | single | intron,near-gene-5 | 4 | 1000GENOMES,ABI,CSHL-HAPMAP,ENSEMBL, | 2 | 0.979167 |
COQ6 | chr14 | 74417711 | 74417712 | rs11850097 | + | A | A/G | single | intron,near-gene-5 | 4 | 1000GENOMES,ABI,CSHL-HAPMAP,ENSEMBL, | 2 | 0.988543 |
COQ6 | chr14 | 74417797 | 74417798 | rs8013496 | + | G | C/G | single | intron,near-gene-5 | 13 | 1000GENOMES,ABI,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,PJP,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.363969 |
COQ6 | chr14 | 74417912 | 74417913 | rs112260439 | + | G | G/T | single | intron,near-gene-5 | 3 | 1000GENOMES,BUSHMAN,TISHKOFF, | 2 | 0.985780 |
COQ6 | chr14 | 74418065 | 74418066 | rs114383382 | + | G | C/G | single | intron,near-gene-5 | 2 | 1000GENOMES,TISHKOFF, | 2 | 0.013937 |
COQ6 | chr14 | 74418140 | 74418141 | rs11628276 | + | G | A/G | single | intron,near-gene-5 | 10 | 1000GENOMES,ABI,BCMHGSC_JDW,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,PJP,SSMP,TISHKOFF, | 2 | 0.248856 |
COQ6 | chr14 | 74418587 | 74418588 | rs66712197 | + | G | A/G | single | intron,near-gene-5 | 8 | 1000GENOMES,BCM-HGSC-SUB,COMPLETE_GENOMICS,ENSEMBL,GMI,HUMANGENOME_JCVI,PJP,SSMP, | 2 | 0.105769 |
COQ6 | chr14 | 74418749 | 74418750 | rs72723772 | + | T | C/T | single | intron,near-gene-5 | 3 | 1000GENOMES,GMI,SSMP, | 2 | 0.021120 |
COQ6 | chr14 | 74418969 | 74418970 | rs77680522 | + | C | C/T | single | intron,near-gene-5 | 5 | 1000GENOMES,BGI,GMI,SSMP,TISHKOFF, | 2 | 0.859045 |
L2HGDH | chr14 | 50767504 | 50767505 | rs113989112 | + | C | C/T | single | intron,near-gene-5 | 4 | 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,SSMP, | 2 | 0.988084 |
L2HGDH | chr14 | 50767548 | 50767549 | rs116110419 | + | T | C/T | single | intron,near-gene-5 | 1 | 1000GENOMES, | 2 | 0.011760 |
L2HGDH | chr14 | 50767751 | 50767752 | rs111526615 | + | C | C/T | single | intron,near-gene-5 | 4 | 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,SSMP, | 2 | 0.987637 |
L2HGDH | chr14 | 50767813 | 50767814 | rs73277317 | + | C | C/G | single | intron,near-gene-5 | 4 | 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,SSMP, | 2 | 0.987637 |
L2HGDH | chr14 | 50767873 | 50767874 | rs112771654 | + | G | A/G | single | intron,near-gene-5 | 4 | 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,SSMP, | 2 | 0.012374 |
L2HGDH | chr14 | 50768389 | 50768390 | rs61584633 | + | A | A/G | single | intron,near-gene-5 | 6 | 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,HGSV,SSMP,TISHKOFF, | 2 | 0.980311 |
L2HGDH | chr14 | 50768482 | 50768483 | rs4901011 | + | A | A/G | single | intron,near-gene-5 | 18 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,PJP,SSAHASNP,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.423304 |
L2HGDH | chr14 | 50768587 | 50768588 | rs73277322 | + | C | C/T | single | intron,near-gene-5 | 3 | 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS, | 2 | 0.989464 |
L2HGDH | chr14 | 50777429 | 50777430 | rs8007800 | + | T | C/T | single | intron,near-gene-5 | 14 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,COMPLETE_GENOMICS,ENSEMBL,GMI,HUMANGENOME_JCVI,ILLUMINA-UK,PJP,SSMP,WI_SSAHASNP, | 2 | 0.545247 |
L2HGDH | chr14 | 50777658 | 50777659 | rs188617542 | + | T | C/T | single | intron,near-gene-5 | 1 | 1000GENOMES, | 2 | 0.100092 |
L2HGDH | chr14 | 50777658 | 50777658 | rs200515426 | + | - | -/C | insertion | intron,near-gene-5 | 1 | 1000GENOMES, | 2 | 0.899449 |
L2HGDH | chr14 | 50778268 | 50778268 | rs72473098 | + | - | -/T | insertion | intron,near-gene-5 | 5 | 1000GENOMES,DEVINE_LAB,LUNTER,SSMP,TISHKOFF, | 2 | 0.872819 |
L2HGDH | chr14 | 50778769 | 50778770 | rs35710558 | - | C | G/T | single | near-gene-5,missense | 7 | 1000GENOMES,APPLERA_GI,EXOME_CHIP,ILLUMINA,KRIBB_YJKIM,NHLBI-ESP,TISHKOFF, | 2 | 0.988918 |
L2HGDH | chr14 | 50778815 | 50778816 | rs2275591 | + | A | A/C | single | near-gene-5,missense | 23 | 1000GENOMES,APPLERA_GI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,ENSEMBL,EXOME_CHIP,GMI,HUMANGENOME_JCVI,ILLUMINA,KRIBB_YJKIM,MGC_GENOME_DIFF,NHLBI-ESP,PERLEGEN,PJP,SEATTLESEQ,SSAHASNP,SSMP,TISHKOFF,YUSUKE, | 2 | 0.429577 |
L2HGDH | chr14 | 50779228 | 50779229 | rs12892575 | + | C | C/T | single | near-gene-5,ncRNA,untranslated-5 | 13 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,COMPLETE_GENOMICS,ENSEMBL,GMI,HUMANGENOME_JCVI,ILLUMINA,KRIBB_YJKIM,PJP,SSAHASNP,SSMP, | 2 | 0.433269 |
L2HGDH | chr14 | 50779263 | 50779264 | rs117249640 | + | A | A/C | single | near-gene-5,ncRNA,untranslated-5 | 1 | 1000GENOMES, | 2 | 0.986510 |
DUOX2 | chr15 | 45404692 | 45404693 | rs751151 | - | C | A/G | single | intron,near-gene-5 | 8 | 1000GENOMES,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,ILLUMINA,SSMP,TISHKOFF,TSC-CSHL, | 2 | 0.051817 |
DUOX2 | chr15 | 45404698 | 45404699 | rs76180151 | + | C | C/T | single | intron,near-gene-5 | 7 | 1000GENOMES,BL,CLINSEQ_SNP,GMI,ILLUMINA,SSMP,TISHKOFF, | 2 | 0.968483 |
DUOX2 | chr15 | 45404773 | 45404774 | rs117041393 | + | G | G/T | single | coding-synon,near-gene-5 | 3 | 1000GENOMES,ILLUMINA,SSMP, | 2 | 0.988251 |
DUOX2 | chr15 | 45404996 | 45404997 | rs113700172 | + | C | C/T | single | intron,near-gene-5 | 3 | 1000GENOMES,BUSHMAN,TISHKOFF, | 2 | 0.985321 |
DUOX2 | chr15 | 45405145 | 45405146 | rs74367551 | + | G | G/T | single | intron,near-gene-5 | 5 | 1000GENOMES,BUSHMAN,ILLUMINA,NHLBI-ESP,TISHKOFF, | 2 | 0.971127 |
DUOX2 | chr15 | 45405322 | 45405323 | rs77078382 | + | C | A/C | single | intron,near-gene-5 | 3 | 1000GENOMES,NHLBI-ESP,TISHKOFF, | 2 | 0.029617 |
DUOX2 | chr15 | 45405413 | 45405414 | rs75354193 | + | C | C/T | single | intron,near-gene-5 | 2 | 1000GENOMES,TISHKOFF, | 2 | 0.969948 |
DUOX2 | chr15 | 45405462 | 45405463 | rs269856 | + | G | G/T | single | intron,near-gene-5 | 22 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,KWOK,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL, | 2 | 0.141864 |
DUOX2 | chr15 | 45405986 | 45405987 | rs269855 | - | G | C/T | single | intron,near-gene-5 | 22 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,KWOK,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WI_SSAHASNP, | 2 | 0.038063 |
DUOX2 | chr15 | 45406197 | 45406198 | rs112353868 | + | G | C/G | single | near-gene-5,untranslated-5 | 4 | 1000GENOMES,BUSHMAN,ILLUMINA,TISHKOFF, | 2 | 0.028440 |
DUOX2 | chr15 | 45406389 | 45406390 | rs113699001 | + | T | C/T | single | near-gene-5 | 3 | 1000GENOMES,BUSHMAN,TISHKOFF, | 2 | 0.015589 |
DUOX2 | chr15 | 45406426 | 45406427 | rs2576089 | + | C | C/T | single | near-gene-5 | 22 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.036247 |
ETFA | chr15 | 76553332 | 76553333 | rs62030244 | + | C | C/T | single | intron,near-gene-5 | 7 | 1000GENOMES,BCMHGSC_JDW,BL,COMPLETE_GENOMICS,ENSEMBL,SSMP,TISHKOFF, | 2 | 0.873052 |
ETFA | chr15 | 76553498 | 76553499 | rs62030245 | + | C | C/G | single | intron,near-gene-5 | 9 | 1000GENOMES,BCMHGSC_JDW,BGI,COMPLETE_GENOMICS,ENSEMBL,GMI,ILLUMINA-UK,SSMP,TISHKOFF, | 2 | 0.682234 |
ETFA | chr15 | 76553587 | 76553588 | rs62030246 | + | G | A/G | single | intron,near-gene-5 | 8 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,ENSEMBL,GMI,ILLUMINA-UK,SSMP,TISHKOFF, | 2 | 0.306141 |
ETFA | chr15 | 76553789 | 76553790 | rs35831705 | + | C | C/T | single | intron,near-gene-5 | 10 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,ENSEMBL,GMI,ILLUMINA-UK,SSMP,TISHKOFF, | 2 | 0.690018 |
ETFA | chr15 | 76553889 | 76553890 | rs62027004 | + | C | C/T | single | intron,near-gene-5 | 6 | 1000GENOMES,BCMHGSC_JDW,BL,ENSEMBL,SSMP,TISHKOFF, | 2 | 0.954587 |
DHODH | chr16 | 72042634 | 72042635 | rs34270657 | + | A | A/G | single | near-gene-5 | 9 | 1000GENOMES,ABI,BCM-HGSC-SUB,ENSEMBL,HUMANGENOME_JCVI,ILLUMINA,NHLBI-ESP,PJP,SSMP, | 2 | 0.953755 |
ACADVL | chr17 | 7121104 | 7121105 | rs72839706 | + | C | A/C | single | coding-synon,intron,near-gene-5 | 3 | 1000GENOMES,ILLUMINA,TISHKOFF, | 2 | 0.020017 |
ACADVL | chr17 | 7121538 | 7121539 | rs41283399 | + | C | C/T | single | intron,near-gene-5 | 6 | 1000GENOMES,CLINSEQ_SNP,ILLUMINA,NHLBI-ESP,SI_EXO,TISHKOFF, | 2 | 0.980941 |
ACADVL | chr17 | 7121784 | 7121785 | rs2521985 | + | T | C/T | single | intron,near-gene-5 | 18 | 1000GENOMES,ABI,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,PJP,SC_JCM,SI_EXO,SSMP,TISHKOFF, | 2 | 0.692197 |
ACADVL | chr17 | 7122339 | 7122340 | rs41283401 | + | G | A/G | single | intron,near-gene-5,untranslated-5 | 4 | 1000GENOMES,ILLUMINA,SI_EXO,TISHKOFF, | 2 | 0.018712 |
ACADVL | chr17 | 7122376 | 7122377 | rs739669 | + | G | A/G | single | intron,near-gene-5,untranslated-5 | 22 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,KYUGEN,PJP,SI_EXO,SSMP,TISHKOFF,TSC-CSHL,WI_SSAHASNP, | 2 | 0.715864 |
ACADVL | chr17 | 7122561 | 7122562 | rs73976748 | + | G | A/G | single | intron,near-gene-5,untranslated-5 | 4 | 1000GENOMES,ILLUMINA,ILLUMINA-UK,TISHKOFF, | 2 | 0.071101 |
ACADVL | chr17 | 7122623 | 7122624 | rs2017365 | + | G | A/G | single | intron,near-gene-5,untranslated-5 | 20 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,ILLUMINA,KRIBB_YJKIM,KYUGEN,PJP,SI_EXO,SSMP,TISHKOFF,TSC-CSHL,WI_SSAHASNP, | 2 | 0.490992 |
ACADVL | chr17 | 7122827 | 7122828 | rs41283403 | + | C | C/T | single | intron,near-gene-5,untranslated-5 | 4 | 1000GENOMES,ILLUMINA,SI_EXO,TISHKOFF, | 2 | 0.975579 |
ACADVL | chr17 | 7122955 | 7122956 | rs79809891 | + | G | A/G | single | intron,near-gene-5,untranslated-5 | 3 | 1000GENOMES,ILLUMINA,TISHKOFF, | 2 | 0.027003 |
ACADVL | chr17 | 7123009 | 7123010 | rs79281055 | + | C | C/T | single | intron,near-gene-5,untranslated-5 | 2 | 1000GENOMES,ILLUMINA, | 2 | 0.986498 |
ACADVL | chr17 | 7123505 | 7123506 | rs2230178 | + | G | A/G | single | near-gene-5,missense,untranslated-5 | 10 | 1000GENOMES,APPLERA_GI,CGAP-GAI,COMPLETE_GENOMICS,EXOME_CHIP,GENEREVIEWS,ILLUMINA,NHLBI-ESP,SSMP,WICVAR, | 2 | 0.071173 |
ACADVL | chr17 | 7123614 | 7123615 | rs77289756 | + | T | G/T | single | intron,near-gene-5 | 2 | 1000GENOMES,TISHKOFF, | 2 | 0.033101 |
ACADVL | chr17 | 7123837 | 7123838 | rs28934585 | + | C | C/T | single | intron,near-gene-5,missense,untranslated-5 | 11 | 1000GENOMES,APPLERA_GI,CLINSEQ_SNP,EXOME_CHIP,GENEREVIEWS,ILLUMINA,ILLUMINA-UK,NHLBI-ESP,OMICIA,PERLEGEN,SEATTLESEQ, | 2 | 0.970896 |
ACADVL | chr17 | 7123972 | 7123973 | rs201085520 | + | T | C/T | single | coding-synon,near-gene-5 | 1 | 1000GENOMES, | 2 | 0.031680 |
ACADVL | chr17 | 7124505 | 7124506 | rs77680021 | + | G | A/G | single | intron,near-gene-5 | 3 | 1000GENOMES,GMI,ILLUMINA, | 2 | 0.041775 |
ACADVL | chr17 | 7124687 | 7124688 | rs8074626 | + | C | A/C | single | intron,near-gene-5 | 4 | 1000GENOMES,COMPLETE_GENOMICS,TISHKOFF,WI_SSAHASNP, | 2 | 0.020015 |
ACADVL | chr17 | 7124790 | 7124791 | rs76640635 | + | A | A/C | single | intron,near-gene-5 | 2 | 1000GENOMES,ENSEMBL, | 2 | 0.975252 |
ACADVL | chr17 | 7124834 | 7124836 | rs60400822 | + | CA | -/CA | deletion | intron,near-gene-5 | 5 | 1000GENOMES,HGSV,LUNTER,TISHKOFF,WARNICH_LAB, | 2 | 0.066575 |
ACADVL | chr17 | 7125077 | 7125078 | rs76224236 | + | T | C/T | single | intron,near-gene-5 | 3 | 1000GENOMES,GMI,ILLUMINA, | 2 | 0.012185 |
ACADVL | chr17 | 7125215 | 7125216 | rs79120091 | + | G | A/G | single | intron,near-gene-5 | 3 | 1000GENOMES,ILLUMINA,TISHKOFF, | 2 | 0.024826 |
ACADVL | chr17 | 7127717 | 7127718 | rs17671352 | + | T | C/T | single | intron,near-gene-5 | 16 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BL,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,ILLUMINA,NHLBI-ESP,PERLEGEN,SSMP,TISHKOFF, | 2 | 0.529262 |
ACOX1 | chr17 | 73937664 | 73937665 | rs3643 | + | T | C/T | single | near-gene-5,untranslated-3 | 15 | 1000GENOMES,AFFY,BL,BUSHMAN,COMPLETE_GENOMICS,GMI,HGSV,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,PERLEGEN,SSMP,TISHKOFF,TSC-CSHL,WIAF, | 4 | 0.013769 |
ACOX1 | chr17 | 73937704 | 73937705 | rs73355712 | + | T | C/T | single | near-gene-5,untranslated-3 | 5 | 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,ILLUMINA,TISHKOFF, | 2 | 0.037511 |
ACOX1 | chr17 | 73938338 | 73938339 | rs7212287 | + | T | C/T | single | near-gene-5,untranslated-3 | 7 | 1000GENOMES,BCM_SSAHASNP,BL,GMI,HGSV,SSMP,TISHKOFF, | 2 | 0.106520 |
ACOX1 | chr17 | 73938356 | 73938356 | rs59512794 | + | - | -/A | insertion | near-gene-5,untranslated-3 | 6 | 1000GENOMES,GMI,HGSV,LUNTER,SSMP,TISHKOFF, | 2 | 0.803949 |
ACOX1 | chr17 | 73938384 | 73938385 | rs7207656 | + | C | C/T | single | near-gene-5,untranslated-3 | 9 | 1000GENOMES,BCM_SSAHASNP,BL,BUSHMAN,GMI,HGSV,ILLUMINA-UK,SSMP,TISHKOFF, | 2 | 0.888583 |
ACOX1 | chr17 | 73938885 | 73938886 | rs16968333 | + | G | A/G | single | near-gene-5,untranslated-3 | 4 | 1000GENOMES,ILLUMINA,PERLEGEN,TISHKOFF, | 2 | 0.016810 |
ACOX1 | chr17 | 73938956 | 73938957 | rs2608880 | - | C | A/G | single | near-gene-5,untranslated-3 | 15 | 1000GENOMES,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,GMI,HGSV,ILLUMINA,ILLUMINA-UK,PERLEGEN,SC_JCM,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.429522 |
ACOX1 | chr17 | 73973431 | 73973432 | rs118121093 | + | G | C/G | single | intron,near-gene-5 | 4 | 1000GENOMES,GMI,SSMP,TISHKOFF, | 2 | 0.046127 |
ACOX1 | chr17 | 73973476 | 73973477 | rs142010497 | + | T | C/T | single | intron,near-gene-5 | 2 | 1000GENOMES,TISHKOFF, | 2 | 0.091368 |
ACOX1 | chr17 | 73973784 | 73973785 | rs73357536 | + | T | C/T | single | intron,near-gene-5 | 7 | 1000GENOMES,BL,COMPLETE_GENOMICS,GMI,ILLUMINA,SSMP,TISHKOFF, | 2 | 0.074771 |
ACOX1 | chr17 | 73973836 | 73973838 | rs138410941 | + | AG | -/AG | deletion | intron,near-gene-5 | 4 | 1000GENOMES,GMI,LUNTER,SSMP, | 2 | 0.039945 |
ACOX1 | chr17 | 73973856 | 73973857 | rs74579692 | + | C | C/T | single | intron,near-gene-5 | 4 | 1000GENOMES,GMI,SSMP,TISHKOFF, | 2 | 0.954308 |
ACOX1 | chr17 | 73974190 | 73974190 | rs201028798 | + | - | -/A | insertion | intron,near-gene-5 | 1 | 1000GENOMES, | 2 | 0.977043 |
ACOX1 | chr17 | 73974292 | 73974293 | rs8078024 | + | A | A/G | single | intron,near-gene-5 | 7 | 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,GMI,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.885832 |
ACOX1 | chr17 | 73974386 | 73974387 | rs56285378 | + | A | A/G | single | intron,near-gene-5 | 7 | 1000GENOMES,BL,COMPLETE_GENOMICS,GMI,HGSV,SSMP,TISHKOFF, | 2 | 0.833486 |
ACOX1 | chr17 | 73974793 | 73974794 | rs9914319 | + | C | A/C | single | intron,near-gene-5 | 5 | 1000GENOMES,BCM_SSAHASNP,CLINSEQ_SNP,NHLBI-ESP,TISHKOFF, | 2 | 0.014358 |
ACOX1 | chr17 | 73974803 | 73974807 | rs145649099 | + | CAGA | -/CAGA | deletion | intron,near-gene-5 | 2 | 1000GENOMES,LUNTER, | 2 | 0.026171 |
ACOX1 | chr17 | 73974885 | 73974886 | rs3744034 | + | T | C/T | single | intron,near-gene-5,untranslated-5 | 11 | 1000GENOMES,BL,COMPLETE_GENOMICS,GMI,HGSV,ILLUMINA,KRIBB_YJKIM,SI_EXO,SSMP,TISHKOFF,YUSUKE, | 2 | 0.079606 |
ACOX1 | chr17 | 73974945 | 73974946 | rs3744035 | + | T | C/T | single | intron,near-gene-5,untranslated-5 | 6 | 1000GENOMES,HGSV,ILLUMINA,SSMP,TISHKOFF,YUSUKE, | 2 | 0.041955 |
ACOX1 | chr17 | 73975227 | 73975227 | rs200824937 | + | - | -/C | insertion | near-gene-5,untranslated-5 | 1 | 1000GENOMES, | 2 | 0.988522 |
FDXR | chr17 | 72864886 | 72864887 | rs75251269 | + | C | C/T | single | intron,near-gene-5 | 2 | 1000GENOMES,SSMP, | 2 | 0.987380 |
FDXR | chr17 | 72865048 | 72865049 | rs78642839 | + | A | A/G | single | intron,near-gene-5 | 4 | 1000GENOMES,ILLUMINA,SSMP,TISHKOFF, | 2 | 0.954884 |
FDXR | chr17 | 72865238 | 72865239 | rs690418 | - | C | A/G | single | intron,near-gene-5 | 15 | 1000GENOMES,ABI,BGI,BUSHMAN,GMI,HGSV,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,PERLEGEN,PJP,SC_JCM,SSMP,TISHKOFF,TSC-CSHL, | 2 | 0.323964 |
FDXR | chr17 | 72865469 | 72865470 | rs690174 | - | G | C/T | single | intron,near-gene-5 | 10 | 1000GENOMES,ABI,BGI,BUSHMAN,COMPLETE_GENOMICS,EGP_SNPS,GMI,SC_JCM,SSMP,TISHKOFF, | 2 | 0.787288 |
FDXR | chr17 | 72865761 | 72865762 | rs690146 | - | A | C/T | single | intron,near-gene-5 | 12 | 1000GENOMES,ABI,BGI,BUSHMAN,COMPLETE_GENOMICS,EGP_SNPS,GMI,ILLUMINA,KRIBB_YJKIM,SC_JCM,SSMP,TISHKOFF, | 2 | 0.200920 |
FDXR | chr17 | 72866227 | 72866228 | rs34615400 | - | G | C/G | single | intron,near-gene-5 | 5 | 1000GENOMES,EGP_SNPS,GMI,SSMP,TISHKOFF, | 2 | 0.960169 |
FDXR | chr17 | 72866376 | 72866377 | rs36089184 | - | C | A/G | single | intron,near-gene-5 | 4 | 1000GENOMES,EGP_SNPS,SSMP,TISHKOFF, | 2 | 0.054376 |
FDXR | chr17 | 72866636 | 72866637 | rs500997 | - | C | A/G | single | intron,near-gene-5 | 1 | SC_JCM, | 2 | 0.010000 |
FDXR | chr17 | 72866678 | 72866679 | rs500887 | - | G | C/T | single | intron,near-gene-5 | 6 | 1000GENOMES,BGI,COMPLETE_GENOMICS,GMI,SC_JCM,TISHKOFF, | 2 | 0.795872 |
FDXR | chr17 | 72866709 | 72866710 | rs500145 | - | C | G/T | single | intron,near-gene-5 | 7 | 1000GENOMES,BGI,COMPLETE_GENOMICS,GMI,ILLUMINA,SC_JCM,TISHKOFF, | 2 | 0.796789 |
FDXR | chr17 | 72866716 | 72866716 | rs112059939 | + | - | -/A | insertion | intron,near-gene-5 | 4 | 1000GENOMES,BILGI_BIOE,BUSHMAN,SSMP, | 2 | 0.795413 |
FDXR | chr17 | 72866725 | 72866726 | rs72844509 | + | C | C/T | single | intron,near-gene-5 | 3 | 1000GENOMES,BGI,GMI, | 2 | 0.794458 |
FDXR | chr17 | 72866759 | 72866760 | rs499995 | - | A | C/T | single | intron,near-gene-5 | 9 | 1000GENOMES,BGI,BUSHMAN,COMPLETE_GENOMICS,GMI,ILLUMINA,SC_JCM,SSMP,TISHKOFF, | 2 | 0.447802 |
PNPO | chr17 | 46019321 | 46019322 | rs147883701 | + | C | C/T | single | intron,near-gene-5 | 3 | 1000GENOMES,ILLUMINA,TISHKOFF, | 2 | 0.986226 |
PNPO | chr17 | 46019600 | 46019601 | rs16949651 | + | A | A/G | single | intron,near-gene-5 | 12 | 1000GENOMES,AFFY,BGI,BUSHMAN,COMPLETE_GENOMICS,GMI,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,PERLEGEN,SSMP,TISHKOFF, | 3 | 0.801962 |
PNPO | chr17 | 46019900 | 46019901 | rs11079803 | + | G | A/G | single | intron,near-gene-5 | 17 | 1000GENOMES,BCM-HGSC-SUB,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,PJP,SSAHASNP,SSMP,TISHKOFF, | 2 | 0.599664 |
PNPO | chr17 | 46020361 | 46020362 | rs77084317 | + | G | A/G | single | intron,near-gene-5 | 2 | 1000GENOMES,TISHKOFF, | 2 | 0.028310 |
PNPO | chr17 | 46020697 | 46020698 | rs11079804 | + | C | C/T | single | coding-synon,near-gene-5 | 20 | 1000GENOMES,ABI,AFFY,BCMHGSC_JDW,CGAP-GAI,CLINSEQ_SNP,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA,KRIBB_YJKIM,MGC_GENOME_DIFF,NHLBI-ESP,PJP,SEATTLESEQ,SSMP,TISHKOFF, | 2 | 0.854557 |
SLC52A1 | chr17 | 4938923 | 4938924 | rs410520 | + | C | C/T | single | near-gene-5 | 13 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,SC_JCM,SSMP,TISHKOFF, | 2 | 0.573321 |
SLC52A1 | chr17 | 4938929 | 4938930 | rs189295466 | + | C | C/T | single | near-gene-5 | 3 | 1000GENOMES,SSMP,TISHKOFF, | 2 | 0.989440 |
SLC52A1 | chr17 | 4939049 | 4939050 | rs58869653 | + | C | -/C | deletion | near-gene-5 | 10 | 1000GENOMES,BILGI_BIOE,BL,DEVINE_LAB,GMI,HGSV,HUMANGENOME_JCVI,LUNTER,PJP,SSMP, | 2 | 0.988532 |
SLC52A1 | chr17 | 4939083 | 4939084 | rs9905696 | + | A | A/G | single | near-gene-5 | 12 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,HGSV,HUMANGENOME_JCVI,PJP,SSMP,TISHKOFF, | 2 | 0.425240 |
SLC52A1 | chr17 | 4939389 | 4939390 | rs141180763 | + | G | A/G | single | near-gene-5 | 1 | 1000GENOMES, | 2 | 0.027548 |
SLC52A1 | chr17 | 4939471 | 4939472 | rs112738163 | + | G | A/G | single | near-gene-5 | 5 | 1000GENOMES,BL,COMPLETE_GENOMICS,SSMP,TISHKOFF, | 2 | 0.072018 |
SLC52A1 | chr17 | 4939652 | 4939653 | rs4790728 | + | A | A/G | single | near-gene-5 | 3 | 1000GENOMES,SSMP,WI_SSAHASNP, | 2 | 0.988062 |
SLC52A1 | chr17 | 4939728 | 4939729 | rs4790242 | + | C | C/T | single | near-gene-5 | 2 | 1000GENOMES,WI_SSAHASNP, | 2 | 0.914141 |
SLC52A1 | chr17 | 4939854 | 4939855 | rs1968492 | - | T | A/G | single | near-gene-5 | 16 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BL,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,PJP,SC_JCM,SSAHASNP,SSMP,TSC-CSHL,WI_SSAHASNP, | 2 | 0.081353 |
SLC52A1 | chr17 | 4939926 | 4939927 | rs150094593 | + | G | A/G | single | near-gene-5 | 2 | 1000GENOMES,TISHKOFF, | 2 | 0.010560 |
SLC52A1 | chr17 | 4939986 | 4939987 | rs3885779 | - | G | C/T | single | near-gene-5 | 17 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL, | 2 | 0.648427 |
SLC52A1 | chr17 | 4940260 | 4940261 | rs118100930 | + | A | A/G | single | near-gene-5 | 3 | 1000GENOMES,GMI,SSMP, | 2 | 0.960836 |
SLC52A1 | chr17 | 4940495 | 4940496 | rs72822614 | + | G | A/G | single | near-gene-5 | 6 | 1000GENOMES,BGI,COMPLETE_GENOMICS,GMI,SSMP,TISHKOFF, | 2 | 0.073394 |
ACP5 | chr19 | 11688888 | 11688889 | rs76639504 | + | A | A/T | single | intron,near-gene-5 | 3 | 1000GENOMES,GMI,SSMP, | 2 | 0.919930 |
ACP5 | chr19 | 11688959 | 11688960 | rs17001464 | - | C | -/G | deletion | intron,near-gene-5 | 5 | 1000GENOMES,KYUGEN,LUNTER,SSMP,TISHKOFF, | 2 | 0.029519 |
ACP5 | chr19 | 11689131 | 11689132 | rs139927262 | + | C | C/T | single | intron,near-gene-5 | 2 | 1000GENOMES,ILLUMINA, | 2 | 0.986685 |
ACP5 | chr19 | 11689157 | 11689158 | rs3760780 | - | T | A/G | single | intron,near-gene-5 | 16 | 1000GENOMES,BCM-HGSC-SUB,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,GMI,HGSV,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,SSMP,TISHKOFF,YUSUKE, | 2 | 0.494603 |
ETFB | chr19 | 51858538 | 51858539 | rs10419235 | + | T | C/T | single | intron,near-gene-5 | 4 | 1000GENOMES,BCM_SSAHASNP,HGSV,TISHKOFF, | 2 | 0.026581 |
ETFB | chr19 | 51858799 | 51858800 | rs139724399 | + | G | G/T | single | intron,near-gene-5 | 3 | 1000GENOMES,GMI,SSMP, | 2 | 0.921947 |
ETFB | chr19 | 51859050 | 51859051 | rs80143357 | + | A | A/G | single | intron,near-gene-5 | 4 | 1000GENOMES,ENSEMBL,GMI,SSMP, | 2 | 0.709633 |
ETFB | chr19 | 51859110 | 51859111 | rs11880444 | + | A | A/C | single | intron,near-gene-5 | 9 | 1000GENOMES,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,PJP,SSAHASNP,SSMP, | 2 | 0.508242 |
ETFB | chr19 | 51859130 | 51859131 | rs55996055 | + | G | A/G | single | intron,near-gene-5 | 2 | 1000GENOMES,HGSV, | 2 | 0.064279 |
ETFB | chr19 | 51859194 | 51859195 | rs192498801 | + | G | A/G | single | intron,near-gene-5 | 1 | 1000GENOMES, | 2 | 0.020661 |
ETFB | chr19 | 51859209 | 51859210 | rs184632388 | + | G | C/G | single | intron,near-gene-5 | 1 | 1000GENOMES, | 2 | 0.012397 |
ETFB | chr19 | 51859286 | 51859287 | rs11880489 | + | A | A/G | single | intron,near-gene-5 | 11 | 1000GENOMES,BL,BUSHMAN,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,PJP,SSAHASNP,SSMP, | 2 | 0.279963 |
ETFB | chr19 | 51859370 | 51859371 | rs201352066 | + | T | -/T | deletion | intron,near-gene-5 | 1 | 1000GENOMES, | 2 | 0.143251 |
ETFB | chr19 | 51859374 | 51859375 | rs34601865 | + | T | A/T | single | intron,near-gene-5 | 5 | 1000GENOMES,ABI,BUSHMAN,HGSV,PJP, | 2 | 0.072477 |
ETFB | chr19 | 51859375 | 51859376 | rs61433337 | + | T | A/T | single | intron,near-gene-5 | 6 | 1000GENOMES,ENSEMBL,GMI,HGSV,ILLUMINA-UK,PJP, | 2 | 0.429487 |
ETFB | chr19 | 51859376 | 51859377 | rs114693949 | + | A | A/T | single | intron,near-gene-5 | 1 | 1000GENOMES, | 2 | 0.961672 |
ETFB | chr19 | 51859665 | 51859666 | rs117488111 | + | C | C/T | single | intron,near-gene-5 | 2 | 1000GENOMES,SSMP, | 2 | 0.986945 |
ETFB | chr19 | 51859846 | 51859847 | rs11881186 | + | C | C/T | single | intron,near-gene-5 | 11 | 1000GENOMES,ABI,BUSHMAN,CSHL-HAPMAP,ENSEMBL,HGSV,HUMANGENOME_JCVI,PJP,SSAHASNP,SSMP,TISHKOFF, | 2 | 0.917083 |
ETFB | chr19 | 51859977 | 51859978 | rs57439176 | + | A | A/G | single | intron,near-gene-5 | 4 | 1000GENOMES,COMPLETE_GENOMICS,HGSV,PJP, | 2 | 0.971560 |
ETFB | chr19 | 51860057 | 51860058 | rs116029153 | + | C | A/C | single | intron,near-gene-5 | 2 | 1000GENOMES,TISHKOFF, | 2 | 0.014808 |
ACP1 | chr2 | 264878 | 264879 | rs111341344 | + | C | A/C | single | near-gene-5,ncRNA,untranslated-5 | 2 | 1000GENOMES,COMPLETE_GENOMICS, | 2 | 0.018349 |
ACP1 | chr2 | 264984 | 264985 | rs11691572 | + | G | G/T | single | near-gene-5,ncRNA,missense | 9 | 1000GENOMES,ABI,AFFY,BUSHMAN,CSHL-HAPMAP,ENSEMBL,EXOME_CHIP,ILLUMINA,NHLBI-ESP, | 2 | 0.989735 |
ACP1 | chr2 | 265014 | 265015 | rs116051772 | + | G | A/G | single | intron,near-gene-5 | 3 | 1000GENOMES,NHLBI-ESP,TISHKOFF, | 2 | 0.010453 |
ACP1 | chr2 | 265016 | 265017 | rs143584646 | + | C | C/T | single | intron,near-gene-5 | 3 | 1000GENOMES,NHLBI-ESP,SSMP, | 2 | 0.988062 |
ACP1 | chr2 | 265103 | 265104 | rs7588515 | + | G | A/G | single | intron,near-gene-5 | 5 | 1000GENOMES,ILLUMINA,KRIBB_YJKIM,TISHKOFF,WI_SSAHASNP, | 2 | 0.022844 |
ACP1 | chr2 | 265574 | 265575 | rs114707038 | + | C | C/T | single | intron,near-gene-5 | 2 | 1000GENOMES,TISHKOFF, | 2 | 0.987805 |
ACP1 | chr2 | 265591 | 265592 | rs28364676 | - | T | -/A | deletion | intron,near-gene-5 | 9 | 1000GENOMES,BGI,GMI,HUMANGENOME_JCVI,KYUGEN,LUNTER,PJP,SSMP,TISHKOFF, | 2 | 0.364220 |
ACP1 | chr2 | 265969 | 265970 | rs4447635 | + | C | C/G | single | intron,near-gene-5 | 20 | 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,DEVINE_LAB,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA,KRIBB_YJKIM,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF, | 2 | 0.644639 |
AGPS | chr2 | 178257390 | 178257391 | rs113671272 | + | G | A/G | single | near-gene-5,ncRNA | 5 | 1000GENOMES,BCM-HGSC-SUB,GMI,SSMP,TISHKOFF, | 2 | 0.152605 |