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1.

rs2461838 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    17:18361950 (GRCh38)
    17:18265264 (GRCh37)
    Canonical SPDI:
    NC_000017.11:18361949:G:A
    Gene:
    SHMT1 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0.280515/42567 (ALFA)
    A=0.062393/4832 (TOMMO)
    A=0.07358/215 (KOREAN)
    A=0.079439/17 (Vietnamese)
    A=0.082803/599 (Korea4K)
    A=0.083333/6 (PRJEB36033)
    A=0.15/6 (GENOME_DK)
    A=0.163656/308 (HapMap)
    A=0.175919/881 (1000Genomes)
    A=0.178638/1144 (1000Genomes_30X)
    A=0.185185/40 (Qatari)
    A=0.245854/65075 (TOPMED)
    A=0.251667/151 (NorthernSweden)
    A=0.25548/38066 (GnomAD_genomes)
    A=0.285714/320 (Daghestan)
    A=0.289137/181 (Chileans)
    A=0.292585/292 (GoNL)
    A=0.300162/1113 (TWINSUK)
    A=0.314738/1213 (ALSPAC)
    A=0.357143/1600 (Estonian)
    G=0.441176/90 (SGDP_PRJ)
    G=0.5/13 (Siberian)
    HGVS:

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