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1.

rs10930046 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>A,C [Show Flanks]
    Chromosome:
    2:162281473 (GRCh38)
    2:163137983 (GRCh37)
    Canonical SPDI:
    NC_000002.12:162281472:T:A,NC_000002.12:162281472:T:C
    Gene:
    IFIH1 (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant
    Clinical significance:
    benign
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0.040012/12263 (ALFA)
    C=0.00986/38 (ALSPAC)
    C=0.010248/38 (TWINSUK)
    C=0.016447/5 (FINRISK)
    C=0.016784/19 (Daghestan)
    C=0.017034/17 (GoNL)
    C=0.018727/10 (MGP)
    C=0.021652/97 (Estonian)
    C=0.026667/16 (NorthernSweden)
    C=0.05/2 (GENOME_DK)
    C=0.069444/15 (Qatari)
    C=0.090909/56 (Vietnamese)
    C=0.093337/11171 (ExAC)
    C=0.128788/102 (PRJEB37584)
    C=0.145643/1053 (Korea4K)
    C=0.149954/1950 (GoESP)
    C=0.150794/11647 (TOMMO)
    C=0.151747/278 (Korea1K)
    C=0.152293/445 (KOREAN)
    C=0.18825/49828 (TOPMED)
    C=0.19369/970 (1000Genomes)
    C=0.196391/370 (HapMap)
    C=0.202998/1300 (1000Genomes_30X)
    C=0.303566/23890 (PAGE_STUDY)
    T=0.34/51 (SGDP_PRJ)
    T=0.5/2 (Siberian)
    HGVS:

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