Gene Symbol | Chromosome | Start | End | rs ID | Strand | NCBI ref | Observed | Class | Function | Submitter Count | Submitter | Frequency Count | Allele Frequency |
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ACADM | chr1 | 76229786 | 76229787 | rs1146588 | - | C | C/G | single | near-gene-3 | 16 | 1000GENOMES,ABI,BCMHGSC_JDW,BCM_SSAHASNP,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,ILLUMINA-UK,KWOK,PJP,SC_JCM,SC_SNP,SSMP,TISHKOFF, | 2 | 0.311375 |
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 |
FLAD1 | chr1 | 154961705 | 154961706 | rs2089248 | + | A | A/G | single | intron,near-gene-3 | 15 | 1000GENOMES,ABI,AFFY,BCM_SSAHASNP,BUSHMAN,CSHL-HAPMAP,ENSEMBL,GMI,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,PERLEGEN,SSMP,TISHKOFF,TSC-CSHL, | 2 | 0.887726 |
FMO3 | chr1 | 171070471 | 171070472 | rs12404455 | + | G | G/T | single | intron,near-gene-3,near-gene-5 | 9 | 1000GENOMES,ABI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,SSMP,TISHKOFF, | 2 | 0.892692 |
FMO3 | chr1 | 171070795 | 171070796 | rs79111056 | + | C | A/C | single | intron,near-gene-3,near-gene-5 | 3 | 1000GENOMES,BUSHMAN,TISHKOFF, | 2 | 0.012385 |
KDM1A | chr1 | 23384184 | 23384185 | rs28663624 | + | A | A/G | single | intron,near-gene-3 | 5 | 1000GENOMES,COMPLETE_GENOMICS,ILLUMINA,SSAHASNP,TISHKOFF, | 2 | 0.984862 |
KDM1A | chr1 | 23410074 | 23410074 | rs139522271 | + | - | -/AAAG | insertion | near-gene-3,untranslated-3 | 2 | 1000GENOMES,LUNTER, | 2 | 0.988981 |
KDM1A | chr1 | 23410137 | 23410138 | rs12137204 | + | T | G/T | single | near-gene-3,untranslated-3 | 11 | ABI,BGI,BL,BUSHMAN,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,SC_SNP,SSAHASNP, | 2 | 0.818182 |
KDM1A | chr1 | 23410139 | 23410140 | rs12139776 | + | G | G/T | single | near-gene-3,untranslated-3 | 14 | 1000GENOMES,ABI,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,SC_SNP,SI_EXO,SSAHASNP, | 2 | 0.153846 |
KDM1A | chr1 | 23410139 | 23410140 | rs201520274 | + | G | -/G | deletion | near-gene-3,untranslated-3 | 1 | 1000GENOMES, | 2 | 0.788338 |
MTHFR | chr1 | 11849666 | 11849667 | rs45574135 | - | C | A/G | single | near-gene-3,untranslated-3 | 1 | EGP_SNPS, | 2 | 0.011628 |
PPOX | chr1 | 161141431 | 161141432 | rs6779 | - | C | C/G | single | near-gene-3,untranslated-3 | 17 | 1000GENOMES,BCM-HGSC-SUB,BGI,CGAP-GAI,COMPLETE_GENOMICS,ENSEMBL,GMI,HUMANGENOME_JCVI,ILLUMINA,LEE,PERLEGEN,PJP,SI_EXO,SSMP,TISHKOFF,UWGC,YUSUKE, | 2 | 0.271121 |
ACP2 | chr11 | 47261070 | 47261071 | rs4640 | - | C | A/G | single | near-gene-3,untranslated-3 | 12 | 1000GENOMES,AFFY,CGAP-GAI,EGP_SNPS,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,LEE,PERLEGEN,SSMP,TISHKOFF,UWGC, | 2 | 0.042260 |
ACP2 | chr11 | 47261094 | 47261097 | rs138812797 | + | ACA | -/ACA | deletion | near-gene-3,cds-indel | 2 | 1000GENOMES,LUNTER, | 2 | 0.011478 |
ACP2 | chr11 | 47261096 | 47261099 | rs4647763 | + | AAC | -/AAC | deletion | near-gene-3,cds-indel | 3 | EGP_SNPS,ILLUMINA,TISHKOFF, | 2 | 0.020000 |
ACP2 | chr11 | 47261259 | 47261260 | rs11988 | - | G | C/T | single | near-gene-3,untranslated-3 | 15 | 1000GENOMES,ABI,CGAP-GAI,EGP_SNPS,ENSEMBL,HUMANGENOME_JCVI,ILLUMINA,KRIBB_YJKIM,LEE,PJP,SC_SNP,SEQUENOM,SSAHASNP,SSMP,TISHKOFF, | 2 | 0.821457 |
ACP2 | chr11 | 47266761 | 47266762 | rs11039146 | + | G | A/G | single | intron,near-gene-3 | 6 | 1000GENOMES,ILLUMINA,ILLUMINA-UK,SC_SNP,SSMP,TISHKOFF, | 2 | 0.033486 |
ACP2 | chr11 | 47266807 | 47266808 | rs2242261 | - | T | A/C | single | intron,near-gene-3 | 18 | 1000GENOMES,ABI,BCM-HGSC-SUB,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,GMI,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,NHLBI-ESP,PJP,SC_SNP,SSMP,TISHKOFF,WI_SSAHASNP,YUSUKE, | 2 | 0.639616 |
NDUFV1 | chr11 | 67377786 | 67377787 | rs111907965 | + | C | C/T | single | intron,near-gene-3 | 4 | 1000GENOMES,BUSHMAN,ILLUMINA,TISHKOFF, | 2 | 0.983035 |
NDUFV1 | chr11 | 67377808 | 67377819 | rs111437532 | + | TGGGCTGGGGG | -/TGGGCTGGGGG | deletion | intron,near-gene-3 | 3 | 1000GENOMES,BUSHMAN,LUNTER, | 2 | 0.037156 |
NDUFV1 | chr11 | 67377889 | 67377890 | rs10896187 | + | C | C/G | single | coding-synon,near-gene-3 | 7 | 1000GENOMES,BUSHMAN,CGAP-GAI,ILLUMINA,NHLBI-ESP,SC_SNP,TISHKOFF, | 2 | 0.950810 |
NDUFV1 | chr11 | 67378228 | 67378229 | rs3016861 | + | T | G/T | single | intron,near-gene-3 | 19 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,ILLUMINA,ILLUMINA-UK,PJP,SC_JCM,SC_SNP,SSAHASNP,SSMP,TISHKOFF, | 2 | 0.957967 |
COQ6 | chr14 | 74429847 | 74429848 | rs72627142 | + | G | C/G | single | near-gene-3 | 5 | 1000GENOMES,BGI,GMI,SSMP,TISHKOFF, | 2 | 0.155215 |
COQ6 | chr14 | 74429982 | 74429983 | rs116563548 | + | C | C/T | single | near-gene-3 | 2 | 1000GENOMES,TISHKOFF, | 2 | 0.984756 |
L2HGDH | chr14 | 50708868 | 50708869 | rs4901001 | + | C | C/T | single | near-gene-3 | 8 | 1000GENOMES,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,GMI,SSMP,WI_SSAHASNP, | 2 | 0.743813 |
ETFA | chr15 | 76508565 | 76508569 | rs143535013 | + | AAAT | -/AAAT | deletion | near-gene-3 | 4 | 1000GENOMES,GMI,LUNTER,SSMP, | 2 | 0.113407 |
IVD | chr15 | 40713773 | 40713774 | rs1001528 | - | A | C/T | single | near-gene-3 | 22 | 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA,KRIBB_YJKIM,PERLEGEN,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL, | 3 | 0.508955 |
IVD | chr15 | 40713848 | 40713849 | rs12914710 | + | G | A/G | single | near-gene-3 | 18 | 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA,KRIBB_YJKIM,PJP,SSAHASNP,SSMP,TISHKOFF, | 2 | 0.600384 |
IVD | chr15 | 40713877 | 40713878 | rs12914315 | + | A | A/G | single | near-gene-3 | 18 | 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA,KRIBB_YJKIM,PJP,SSAHASNP,SSMP,TISHKOFF, | 2 | 0.363359 |
ACADVL | chr17 | 7126144 | 7126145 | rs8064573 | + | G | A/G | single | coding-synon,near-gene-3 | 11 | 1000GENOMES,APPLERA_GI,CLINSEQ_SNP,COMPLETE_GENOMICS,GENEREVIEWS,ILLUMINA,KRIBB_YJKIM,NHLBI-ESP,SEATTLESEQ,TISHKOFF,WI_SSAHASNP, | 2 | 0.027577 |
GCDH | chr19 | 13009756 | 13009757 | rs147556113 | + | A | A/G | single | intron,near-gene-3 | 2 | 1000GENOMES,TISHKOFF, | 2 | 0.987603 |
GCDH | chr19 | 13009761 | 13009762 | rs115681337 | + | T | A/T | single | intron,near-gene-3 | 2 | 1000GENOMES,TISHKOFF, | 2 | 0.032230 |
ACP1 | chr2 | 272839 | 272840 | rs12714401 | + | G | A/G | single | intron,near-gene-3 | 16 | 1000GENOMES,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,PJP,SSAHASNP,SSMP,WUGSC_SSAHASNP, | 2 | 0.617011 |
ACP1 | chr2 | 272925 | 272926 | rs12714402 | + | A | A/G | single | intron,near-gene-3 | 19 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WUGSC_SSAHASNP, | 2 | 0.380073 |
CYB5R3 | chr22 | 43035343 | 43035344 | rs201181275 | + | T | -/T | deletion | intron,near-gene-3 | 1 | 1000GENOMES, | 2 | 0.627640 |
CYB5R3 | chr22 | 43035346 | 43035346 | rs201722897 | + | - | -/C | insertion | intron,near-gene-3 | 2 | 1000GENOMES,TISHKOFF, | 2 | 0.708907 |
CYB5R3 | chr22 | 43035370 | 43035371 | rs139626388 | + | C | C/T | single | intron,near-gene-3 | 1 | 1000GENOMES, | 2 | 0.980716 |
CYB5R3 | chr22 | 43035409 | 43035410 | rs137140 | + | A | A/G | single | intron,near-gene-3 | 18 | 1000GENOMES,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,PJP,SC,SC_JCM,SC_SNP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL, | 2 | 0.059361 |
CYB5R3 | chr22 | 43035414 | 43035415 | rs7287830 | + | C | C/T | single | intron,near-gene-3 | 7 | 1000GENOMES,BCM_SSAHASNP,BUSHMAN,GMI,HGSV,SSMP,TISHKOFF, | 2 | 0.739569 |
CYB5R3 | chr22 | 43035581 | 43035582 | rs12329980 | + | C | C/T | single | intron,near-gene-3 | 3 | 1000GENOMES,SC_SNP,TISHKOFF, | 2 | 0.986685 |
CYB5R3 | chr22 | 43035792 | 43035793 | rs5751318 | + | G | C/G | single | intron,near-gene-3 | 14 | 1000GENOMES,AFFY,BL,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,KRIBB_YJKIM,PERLEGEN,PJP,SC_SNP,SSMP,TISHKOFF, | 2 | 0.343750 |
ACAD9 | chr3 | 128628722 | 128628723 | rs75330990 | + | A | A/G | single | intron,near-gene-3 | 3 | 1000GENOMES,ILLUMINA,TISHKOFF, | 2 | 0.984769 |
ACAD9 | chr3 | 128628808 | 128628809 | rs6797917 | + | A | A/G | single | intron,near-gene-3 | 8 | 1000GENOMES,BCMHGSC_JDW,BCM_SSAHASNP,BUSHMAN,CLINSEQ_SNP,ENSEMBL,ILLUMINA,SSMP, | 2 | 0.954189 |
ACAD9 | chr3 | 128632051 | 128632052 | rs16852231 | + | C | C/T | single | intron,near-gene-3 | 9 | 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,HGSV,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,PERLEGEN,TISHKOFF, | 2 | 0.906690 |
ACAD9 | chr3 | 128632320 | 128632320 | rs146809759 | + | - | -/TACACCAGGTCCC | insertion | intron,near-gene-3 | 2 | 1000GENOMES,LUNTER, | 2 | 0.891644 |
ACAD9 | chr3 | 128632453 | 128632454 | rs6790721 | + | A | A/G | single | intron,near-gene-3 | 9 | 1000GENOMES,AFFY,BCMHGSC_JDW,BCM_SSAHASNP,ENSEMBL,ILLUMINA,KRIBB_YJKIM,PERLEGEN,SSMP, | 2 | 0.927011 |
ETFDH | chr4 | 159629813 | 159629814 | rs17843966 | - | A | G/T | single | near-gene-3,untranslated-3 | 8 | 1000GENOMES,COMPLETE_GENOMICS,EGP_SNPS,GMI,HGSV,ILLUMINA,KRIBB_YJKIM,SSMP, | 2 | 0.172070 |
ETFDH | chr4 | 159630080 | 159630081 | rs11934134 | + | G | G/T | single | near-gene-3 | 8 | 1000GENOMES,ABI,CSHL-HAPMAP,EGP_SNPS,ENSEMBL,ILLUMINA,ILLUMINA-UK,TISHKOFF, | 2 | 0.986152 |
ETFDH | chr4 | 159630145 | 159630146 | rs35381165 | + | G | A/G | single | near-gene-3 | 5 | 1000GENOMES,ABI,ENSEMBL,ILLUMINA-UK,TISHKOFF, | 2 | 0.016499 |
ETFDH | chr4 | 159630173 | 159630173 | rs71988837 | + | - | -/GTGTGTGT/TT | insertion | near-gene-3 | 2 | 1000GENOMES,DEVINE_LAB, | 2 | 0.982094 |