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1.

rs749720 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    1:2458263 (GRCh38)
    1:2389702 (GRCh37)
    Canonical SPDI:
    NC_000001.11:2458262:T:C
    Gene:
    PLCH2 (Varview)
    Functional Consequence:
    genic_upstream_transcript_variant,intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0.131724/2488 (ALFA)
    C=0.1/4 (GENOME_DK)
    C=0.111222/111 (GoNL)
    C=0.115983/447 (ALSPAC)
    C=0.12082/448 (TWINSUK)
    C=0.122321/548 (Estonian)
    C=0.12963/28 (Qatari)
    C=0.149034/22238 (GnomAD_genomes)
    C=0.149926/39684 (TOPMED)
    C=0.153333/92 (NorthernSweden)
    C=0.172861/1107 (1000Genomes_30X)
    C=0.174521/874 (1000Genomes)
    C=0.248894/1800 (Korea4K)
    C=0.255639/748 (KOREAN)
    C=0.263661/20419 (TOMMO)
    C=0.32243/69 (Vietnamese)
    T=0.38961/60 (SGDP_PRJ)
    T=0.444444/8 (Siberian)
    HGVS:

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