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1.

rs7663027 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>C [Show Flanks]
    Chromosome:
    4:186191475 (GRCh38)
    4:187112629 (GRCh37)
    Canonical SPDI:
    NC_000004.12:186191474:G:C
    Gene:
    CYP4V2 (Varview), FLJ38576 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
    Clinical significance:
    benign
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0.375596/7095 (ALFA)
    G=0.3/9 (Siberian)
    C=0.317955/9194 (GnomAD_exomes)
    G=0.326923/119 (SGDP_PRJ)
    C=0.362723/1625 (Estonian)
    C=0.371667/223 (NorthernSweden)
    C=0.388428/1497 (ALSPAC)
    C=0.391304/18 (PRJEB36033)
    C=0.392665/1456 (TWINSUK)
    C=0.403295/60137 (GnomAD_genomes)
    C=0.408659/108168 (TOPMED)
    C=0.440506/2821 (1000Genomes_30X)
    C=0.446885/2238 (1000Genomes)
    C=0.453164/3251 (Korea4K)
    C=0.463468/35890 (TOMMO)
    G=0.475/19 (GENOME_DK)
    C=0.475051/1390 (KOREAN)
    C=0.476852/103 (Qatari)
    C=0.480791/851 (Korea1K)
    G=0.495192/103 (Vietnamese)
    G=0.5/1 (ExAC)
    HGVS:

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