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1.

rs1799971 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    6:154039662 (GRCh38)
    6:154360797 (GRCh37)
    Canonical SPDI:
    NC_000006.12:154039661:A:G
    Gene:
    OPRM1 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,genic_upstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
    Clinical significance:
    uncertain-significance,drug-response
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0.1387955/53851 (ALFA)
    G=0.0280899/15 (MGP)
    G=0.0969736/1192 (GoESP)
    G=0.1072144/107 (GoNL)
    G=0.1197854/31706 (TOPMED)
    G=0.1233333/74 (NorthernSweden)
    G=0.1268812/489 (ALSPAC)
    G=0.1291802/479 (TWINSUK)
    G=0.1293379/19291 (GnomAD_genomes)
    G=0.1459821/654 (Estonian)
    G=0.1461268/166 (Daghestan)
    G=0.1489478/11721 (PAGE_STUDY)
    G=0.1527083/213966 (GnomAD_exomes)
    G=0.175/7 (GENOME_DK)
    G=0.1851852/40 (Qatari)
    G=0.1855974/22327 (ExAC)
    G=0.1973094/352 (HapMap)
    G=0.2130518/444 (HGDP_Stanford)
    G=0.2140849/1371 (1000Genomes_30X)
    G=0.218232/711 (PRJEB37766)
    G=0.2234425/1119 (1000Genomes)
    G=0.2350993/71 (FINRISK)
    G=0.3126615/242 (PRJEB37584)
    G=0.3191489/30 (PRJEB36033)
    A=0.3701923/77 (SGDP_PRJ)
    G=0.3782895/230 (Vietnamese)
    G=0.3802875/2751 (Korea4K)
    G=0.387372/1135 (KOREAN)
    G=0.4033843/739 (Korea1K)
    A=0.4166667/10 (Siberian)
    G=0.4509698/34924 (TOMMO)
    HGVS:
    NC_000006.12:g.154039662A>G, NC_000006.11:g.154360797A>G, NG_021208.2:g.34162A>G, NM_000914.5:c.118A>G, NM_000914.4:c.118A>G, NM_000914.3:c.118A>G, NM_001145279.4:c.397A>G, NM_001145279.3:c.397A>G, NM_001145279.2:c.397A>G, NM_001008504.4:c.118A>G, NM_001008504.3:c.118A>G, NM_001008504.2:c.118A>G, NM_001145284.3:c.118A>G, NM_001145284.2:c.118A>G, NM_001145286.3:c.118A>G, NM_001145286.2:c.118A>G, NM_001145286.1:c.118A>G, NM_001008503.3:c.118A>G, NM_001008503.2:c.118A>G, NM_001008503.1:c.118A>G, NM_001285523.3:c.118A>G, NM_001285523.2:c.118A>G, NM_001285523.1:c.118A>G, NM_001145285.3:c.118A>G, NM_001145285.2:c.118A>G, NM_001145285.1:c.118A>G, NM_001145283.2:c.118A>G, NM_001145283.1:c.118A>G, NM_001008505.2:c.118A>G, NM_001008505.1:c.118A>G, NM_001145282.2:c.118A>G, NM_001145282.1:c.118A>G, NM_001285524.1:c.397A>G, NR_104348.1:n.252A>G, NR_104350.1:n.252A>G, NM_001285522.1:c.118A>G, NR_104351.1:n.252A>G, NR_104349.1:n.252A>G, NG_109509.1:g.263A>G, XM_017010907.3:c.304A>G, XM_017010907.2:c.304A>G, XM_017010907.1:c.304A>G, XM_047418837.1:c.304A>G, NP_000905.3:p.Asn40Asp, NP_001138751.1:p.Asn133Asp, NP_001008504.2:p.Asn40Asp, NP_001138756.1:p.Asn40Asp, NP_001138758.1:p.Asn40Asp, NP_001008503.2:p.Asn40Asp, NP_001272452.1:p.Asn40Asp, NP_001138757.1:p.Asn40Asp, NP_001138755.1:p.Asn40Asp, NP_001008505.2:p.Asn40Asp, NP_001138754.1:p.Asn40Asp, NP_001272453.1:p.Asn133Asp, NP_001272451.1:p.Asn40Asp, XP_016866396.1:p.Asn102Asp, XP_047274793.1:p.Asn102Asp

    PubMed

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