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1.

rs10451941 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>A,C [Show Flanks]
    Chromosome:
    3:193637313 (GRCh38)
    3:193355102 (GRCh37)
    Canonical SPDI:
    NC_000003.12:193637312:T:A,NC_000003.12:193637312:T:C
    Gene:
    OPA1 (Varview)
    Functional Consequence:
    intron_variant
    Clinical significance:
    benign,risk-factor
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0.4287/11953 (ALFA)
    C=0.235955/126 (MGP)
    C=0.255397/4280 (TOMMO)
    C=0.276201/506 (Korea1K)
    C=0.278498/816 (KOREAN)
    C=0.324427/255 (PRJEB37584)
    T=0.351429/123 (SGDP_PRJ)
    C=0.361111/78 (Qatari)
    C=0.387414/1940 (1000Genomes)
    T=0.4/16 (Siberian)
    C=0.403846/84 (Vietnamese)
    C=0.420492/111300 (TOPMED)
    C=0.422455/51150 (ExAC)
    C=0.423832/105597 (GnomAD_exomes)
    C=0.424112/5516 (GoESP)
    C=0.431499/1600 (TWINSUK)
    C=0.435872/435 (GoNL)
    C=0.440062/1696 (ALSPAC)
    T=0.444079/135 (FINRISK)
    C=0.45/18 (GENOME_DK)
    C=0.491961/2203 (Estonian)
    C=0.495/297 (NorthernSweden)
    HGVS:

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