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1.

rs1799972 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>A,G,T [Show Flanks]
    Chromosome:
    6:154039561 (GRCh38)
    6:154360696 (GRCh37)
    Canonical SPDI:
    NC_000006.12:154039560:C:A,NC_000006.12:154039560:C:G,NC_000006.12:154039560:C:T
    Gene:
    OPRM1 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,genic_upstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0./0 (ALFA)
    T=0.000809/3 (TWINSUK)
    T=0.001263/1 (PRJEB37584)
    T=0.001297/5 (ALSPAC)
    T=0.001873/1 (MGP)
    T=0.003006/3 (GoNL)
    T=0.004401/5 (Daghestan)
    T=0.027798/2345 (ExAC)
    T=0.046296/10 (Qatari)
    T=0.069476/869 (GoESP)
    T=0.071286/357 (1000Genomes)
    T=0.072776/19263 (TOPMED)
    T=0.074329/476 (1000Genomes_30X)
    C=0.423077/22 (SGDP_PRJ)
    HGVS:
    NC_000006.12:g.154039561C>A, NC_000006.12:g.154039561C>G, NC_000006.12:g.154039561C>T, NC_000006.11:g.154360696C>A, NC_000006.11:g.154360696C>G, NC_000006.11:g.154360696C>T, NG_021208.2:g.34061C>A, NG_021208.2:g.34061C>G, NG_021208.2:g.34061C>T, NM_000914.5:c.17C>A, NM_000914.5:c.17C>G, NM_000914.5:c.17C>T, NM_000914.4:c.17C>A, NM_000914.4:c.17C>G, NM_000914.4:c.17C>T, NM_000914.3:c.17C>A, NM_000914.3:c.17C>G, NM_000914.3:c.17C>T, NM_001145279.4:c.296C>A, NM_001145279.4:c.296C>G, NM_001145279.4:c.296C>T, NM_001145279.3:c.296C>A, NM_001145279.3:c.296C>G, NM_001145279.3:c.296C>T, NM_001145279.2:c.296C>A, NM_001145279.2:c.296C>G, NM_001145279.2:c.296C>T, NM_001008504.4:c.17C>A, NM_001008504.4:c.17C>G, NM_001008504.4:c.17C>T, NM_001008504.3:c.17C>A, NM_001008504.3:c.17C>G, NM_001008504.3:c.17C>T, NM_001008504.2:c.17C>A, NM_001008504.2:c.17C>G, NM_001008504.2:c.17C>T, NM_001145284.3:c.17C>A, NM_001145284.3:c.17C>G, NM_001145284.3:c.17C>T, NM_001145284.2:c.17C>A, NM_001145284.2:c.17C>G, NM_001145284.2:c.17C>T, NM_001145286.3:c.17C>A, NM_001145286.3:c.17C>G, NM_001145286.3:c.17C>T, NM_001145286.2:c.17C>A, NM_001145286.2:c.17C>G, NM_001145286.2:c.17C>T, NM_001145286.1:c.17C>A, NM_001145286.1:c.17C>G, NM_001145286.1:c.17C>T, NM_001008503.3:c.17C>A, NM_001008503.3:c.17C>G, NM_001008503.3:c.17C>T, NM_001008503.2:c.17C>A, NM_001008503.2:c.17C>G, NM_001008503.2:c.17C>T, NM_001008503.1:c.17C>A, NM_001008503.1:c.17C>G, NM_001008503.1:c.17C>T, NM_001285523.3:c.17C>A, NM_001285523.3:c.17C>G, NM_001285523.3:c.17C>T, NM_001285523.2:c.17C>A, NM_001285523.2:c.17C>G, NM_001285523.2:c.17C>T, NM_001285523.1:c.17C>A, NM_001285523.1:c.17C>G, NM_001285523.1:c.17C>T, NM_001145285.3:c.17C>A, NM_001145285.3:c.17C>G, NM_001145285.3:c.17C>T, NM_001145285.2:c.17C>A, NM_001145285.2:c.17C>G, NM_001145285.2:c.17C>T, NM_001145285.1:c.17C>A, NM_001145285.1:c.17C>G, NM_001145285.1:c.17C>T, NM_001145283.2:c.17C>A, NM_001145283.2:c.17C>G, NM_001145283.2:c.17C>T, NM_001145283.1:c.17C>A, NM_001145283.1:c.17C>G, NM_001145283.1:c.17C>T, NM_001008505.2:c.17C>A, NM_001008505.2:c.17C>G, NM_001008505.2:c.17C>T, NM_001008505.1:c.17C>A, NM_001008505.1:c.17C>G, NM_001008505.1:c.17C>T, NM_001145282.2:c.17C>A, NM_001145282.2:c.17C>G, NM_001145282.2:c.17C>T, NM_001145282.1:c.17C>A, NM_001145282.1:c.17C>G, NM_001145282.1:c.17C>T, NM_001285524.1:c.296C>A, NM_001285524.1:c.296C>G, NM_001285524.1:c.296C>T, NR_104348.1:n.151C>A, NR_104348.1:n.151C>G, NR_104348.1:n.151C>T, NR_104350.1:n.151C>A, NR_104350.1:n.151C>G, NR_104350.1:n.151C>T, NM_001285522.1:c.17C>A, NM_001285522.1:c.17C>G, NM_001285522.1:c.17C>T, NR_104351.1:n.151C>A, NR_104351.1:n.151C>G, NR_104351.1:n.151C>T, NR_104349.1:n.151C>A, NR_104349.1:n.151C>G, NR_104349.1:n.151C>T, NG_109509.1:g.162C>A, NG_109509.1:g.162C>G, NG_109509.1:g.162C>T, XM_017010907.3:c.203C>A, XM_017010907.3:c.203C>G, XM_017010907.3:c.203C>T, XM_017010907.2:c.203C>A, XM_017010907.2:c.203C>G, XM_017010907.2:c.203C>T, XM_017010907.1:c.203C>A, XM_017010907.1:c.203C>G, XM_017010907.1:c.203C>T, XM_047418837.1:c.203C>A, XM_047418837.1:c.203C>G, XM_047418837.1:c.203C>T, NP_000905.3:p.Ala6Asp, NP_000905.3:p.Ala6Gly, NP_000905.3:p.Ala6Val, NP_001138751.1:p.Ala99Asp, NP_001138751.1:p.Ala99Gly, NP_001138751.1:p.Ala99Val, NP_001008504.2:p.Ala6Asp, NP_001008504.2:p.Ala6Gly, NP_001008504.2:p.Ala6Val, NP_001138756.1:p.Ala6Asp, NP_001138756.1:p.Ala6Gly, NP_001138756.1:p.Ala6Val, NP_001138758.1:p.Ala6Asp, NP_001138758.1:p.Ala6Gly, NP_001138758.1:p.Ala6Val, NP_001008503.2:p.Ala6Asp, NP_001008503.2:p.Ala6Gly, NP_001008503.2:p.Ala6Val, NP_001272452.1:p.Ala6Asp, NP_001272452.1:p.Ala6Gly, NP_001272452.1:p.Ala6Val, NP_001138757.1:p.Ala6Asp, NP_001138757.1:p.Ala6Gly, NP_001138757.1:p.Ala6Val, NP_001138755.1:p.Ala6Asp, NP_001138755.1:p.Ala6Gly, NP_001138755.1:p.Ala6Val, NP_001008505.2:p.Ala6Asp, NP_001008505.2:p.Ala6Gly, NP_001008505.2:p.Ala6Val, NP_001138754.1:p.Ala6Asp, NP_001138754.1:p.Ala6Gly, NP_001138754.1:p.Ala6Val, NP_001272453.1:p.Ala99Asp, NP_001272453.1:p.Ala99Gly, NP_001272453.1:p.Ala99Val, NP_001272451.1:p.Ala6Asp, NP_001272451.1:p.Ala6Gly, NP_001272451.1:p.Ala6Val, XP_016866396.1:p.Ala68Asp, XP_016866396.1:p.Ala68Gly, XP_016866396.1:p.Ala68Val, XP_047274793.1:p.Ala68Asp, XP_047274793.1:p.Ala68Gly, XP_047274793.1:p.Ala68Val

    PubMed

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