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1.

rs6729072 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>T [Show Flanks]
    Chromosome:
    2:135130508 (GRCh38)
    2:135888078 (GRCh37)
    Canonical SPDI:
    NC_000002.12:135130507:G:T
    Gene:
    RAB3GAP1 (Varview)
    Functional Consequence:
    intron_variant
    Clinical significance:
    benign
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0.0706956/2356 (ALFA)
    T=0.0111572/43 (ALSPAC)
    T=0.0140281/14 (GoNL)
    T=0.015/9 (NorthernSweden)
    T=0.0156419/58 (TWINSUK)
    T=0.0197368/6 (FINRISK)
    T=0.025/1 (GENOME_DK)
    T=0.0264237/33989 (GnomAD_exomes)
    T=0.0309446/19 (Vietnamese)
    T=0.0319489/20 (Chileans)
    T=0.046169/5187 (ExAC)
    T=0.0464286/208 (Estonian)
    T=0.0533602/4132 (TOMMO)
    T=0.0593033/429 (Korea4K)
    T=0.0600437/110 (Korea1K)
    T=0.0614334/180 (KOREAN)
    T=0.0787037/17 (Qatari)
    T=0.1077774/1383 (GoESP)
    T=0.1086726/16212 (GnomAD_genomes)
    T=0.1088259/545 (1000Genomes)
    T=0.1114928/714 (1000Genomes_30X)
    T=0.1210359/32037 (TOPMED)
    T=0.1441074/247 (HapMap)
    G=0.4714286/33 (SGDP_PRJ)
    G=0.5/2 (Siberian)
    HGVS:

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