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1.

rs870160 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>A,C,G [Show Flanks]
    Chromosome:
    20:47112325 (GRCh38)
    20:45740964 (GRCh37)
    Canonical SPDI:
    NC_000020.11:47112324:T:A,NC_000020.11:47112324:T:C,NC_000020.11:47112324:T:G
    Gene:
    EYA2 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0.16657/10374 (ALFA)
    C=0.036572/67 (Korea1K)
    C=0.038844/281 (Korea4K)
    C=0.046729/10 (Vietnamese)
    C=0.04757/139 (KOREAN)
    C=0.054543/4224 (TOMMO)
    C=0.080745/26 (HapMap)
    C=0.1/4 (GENOME_DK)
    C=0.101545/7991 (PAGE_STUDY)
    C=0.128826/825 (1000Genomes_30X)
    C=0.133387/668 (1000Genomes)
    C=0.137859/36490 (TOPMED)
    C=0.147884/22019 (GnomAD_genomes)
    C=0.148148/32 (Qatari)
    C=0.177994/660 (TWINSUK)
    C=0.179813/693 (ALSPAC)
    C=0.191295/857 (Estonian)
    C=0.202465/230 (Daghestan)
    C=0.221443/221 (GoNL)
    C=0.238333/143 (NorthernSweden)
    T=0.45/63 (SGDP_PRJ)
    T=0.5/5 (Siberian)
    HGVS:

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