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1.

rs104894005 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>A,G,T [Show Flanks]
    Chromosome:
    7:44147678 (GRCh38)
    7:44187277 (GRCh37)
    Canonical SPDI:
    NC_000007.14:44147677:C:A,NC_000007.14:44147677:C:G,NC_000007.14:44147677:C:T
    Gene:
    GCK (Varview), LOC105375258 (Varview)
    Functional Consequence:
    coding_sequence_variant,non_coding_transcript_variant,upstream_transcript_variant,stop_gained,genic_upstream_transcript_variant,missense_variant
    Clinical significance:
    likely-benign,pathogenic,uncertain-significance
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0.00004/1 (ALFA)
    T=0.00022/1 (Estonian)
    G=0.00047/2 (1000Genomes)
    G=0.00095/75 (PAGE_STUDY)
    HGVS:
    NC_000007.14:g.44147678C>A, NC_000007.14:g.44147678C>G, NC_000007.14:g.44147678C>T, NC_000007.13:g.44187277C>A, NC_000007.13:g.44187277C>G, NC_000007.13:g.44187277C>T, NG_008847.2:g.55493G>T, NG_008847.2:g.55493G>C, NG_008847.2:g.55493G>A, NM_000162.5:c.835G>T, NM_000162.5:c.835G>C, NM_000162.5:c.835G>A, NM_000162.4:c.835G>T, NM_000162.4:c.835G>C, NM_000162.4:c.835G>A, NM_000162.3:c.835G>T, NM_000162.3:c.835G>C, NM_000162.3:c.835G>A, NM_033508.3:c.832G>T, NM_033508.3:c.832G>C, NM_033508.3:c.832G>A, NM_033508.2:c.832G>T, NM_033508.2:c.832G>C, NM_033508.2:c.832G>A, NM_033508.1:c.832G>T, NM_033508.1:c.832G>C, NM_033508.1:c.832G>A, NM_033507.3:c.838G>T, NM_033507.3:c.838G>C, NM_033507.3:c.838G>A, NM_033507.2:c.838G>T, NM_033507.2:c.838G>C, NM_033507.2:c.838G>A, NM_033507.1:c.838G>T, NM_033507.1:c.838G>C, NM_033507.1:c.838G>A, NM_001354800.1:c.835G>T, NM_001354800.1:c.835G>C, NM_001354800.1:c.835G>A, XR_927223.3:n.28C>A, XR_927223.3:n.28C>G, XR_927223.3:n.28C>T, XR_927223.2:n.12C>A, XR_927223.2:n.12C>G, XR_927223.2:n.12C>T, XR_927223.1:n.12C>A, XR_927223.1:n.12C>G, XR_927223.1:n.12C>T, NP_000153.1:p.Glu279Ter, NP_000153.1:p.Glu279Gln, NP_000153.1:p.Glu279Lys, NP_277043.1:p.Glu278Ter, NP_277043.1:p.Glu278Gln, NP_277043.1:p.Glu278Lys, NP_277042.1:p.Glu280Ter, NP_277042.1:p.Glu280Gln, NP_277042.1:p.Glu280Lys, NP_001341729.1:p.Glu279Ter, NP_001341729.1:p.Glu279Gln, NP_001341729.1:p.Glu279Lys

    LitVar

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