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1.

rs72636686 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A,C [Show Flanks]
    Chromosome:
    1:14792672 (GRCh38)
    1:15119168 (GRCh37)
    Canonical SPDI:
    NC_000001.11:14792671:G:A,NC_000001.11:14792671:G:C
    Gene:
    KAZN (Varview)
    Functional Consequence:
    genic_upstream_transcript_variant,intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0.028194/497 (ALFA)
    C=0.025/1 (GENOME_DK)
    C=0.047735/177 (TWINSUK)
    C=0.047743/184 (ALSPAC)
    C=0.053106/53 (GoNL)
    C=0.055556/12 (Qatari)
    C=0.057813/259 (Estonian)
    C=0.065272/327 (1000Genomes)
    C=0.066318/1111 (TOMMO)
    C=0.068777/126 (Korea1K)
    C=0.069466/18387 (TOPMED)
    C=0.069667/9763 (GnomAD)
    C=0.077474/227 (KOREAN)
    C=0.07806/6143 (PAGE_STUDY)
    C=0.078333/47 (NorthernSweden)
    G=0.407407/22 (SGDP_PRJ)
    G=0.5/4 (Siberian)
    HGVS:

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