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1.

rs11922879 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A,T [Show Flanks]
    Chromosome:
    3:8734016 (GRCh38)
    3:8775702 (GRCh37)
    Canonical SPDI:
    NC_000003.12:8734015:G:A,NC_000003.12:8734015:G:T
    Gene:
    CAV3 (Varview)
    Functional Consequence:
    intron_variant
    Clinical significance:
    benign
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0.061176/2483 (ALFA)
    A=0.000039/3 (TOMMO)
    A=0.000342/1 (KOREAN)
    A=0.003125/1 (HapMap)
    A=0.018868/4 (Vietnamese)
    A=0.025/1 (GENOME_DK)
    A=0.036138/134 (TWINSUK)
    A=0.04008/40 (GoNL)
    A=0.043333/26 (NorthernSweden)
    A=0.046705/180 (ALSPAC)
    A=0.049451/18 (PharmGKB)
    A=0.057183/6150 (ExAC)
    A=0.059211/18 (FINRISK)
    A=0.069444/15 (Qatari)
    A=0.076877/385 (1000Genomes)
    A=0.077045/20393 (TOPMED)
    A=0.078707/11723 (GnomAD_genomes)
    A=0.081043/519 (1000Genomes_30X)
    A=0.081696/366 (Estonian)
    A=0.083731/1089 (GoESP)
    A=0.085438/6724 (PAGE_STUDY)
    G=0.4375/21 (SGDP_PRJ)
    G=0.5/2 (Siberian)
    HGVS:

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