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1.

rs1336 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>T [Show Flanks]
    Chromosome:
    11:71134178 (GRCh38)
    11:70845224 (GRCh37)
    Canonical SPDI:
    NC_000011.10:71134177:G:T
    Gene:
    SHANK2 (Varview)
    Functional Consequence:
    intron_variant,genic_upstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0.076548/1446 (ALFA)
    T=0.01479/57 (ALSPAC)
    T=0.01503/15 (GoNL)
    T=0.016667/10 (NorthernSweden)
    T=0.01699/63 (TWINSUK)
    T=0.023148/5 (Vietnamese)
    T=0.025/1 (GENOME_DK)
    T=0.028072/2174 (TOMMO)
    T=0.037988/111 (KOREAN)
    T=0.03821/70 (Korea1K)
    T=0.039536/286 (Korea4K)
    T=0.064815/14 (Qatari)
    T=0.124325/18498 (GnomAD_genomes)
    T=0.138777/36733 (TOPMED)
    T=0.151558/759 (1000Genomes)
    T=0.155996/999 (1000Genomes_30X)
    G=0.393939/26 (SGDP_PRJ)
    G=0.5/1 (Siberian)
    HGVS:

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