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Items: 2

1.

rs2276918 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    4:186209044 (GRCh38)
    4:187130198 (GRCh37)
    Canonical SPDI:
    NC_000004.12:186209043:A:G
    Gene:
    KLKB1 (Varview), CYP4V2 (Varview)
    Functional Consequence:
    2KB_upstream_variant,intron_variant,upstream_transcript_variant
    Clinical significance:
    benign
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0.3846807/10868 (ALFA)
    G=0./0 (HapMap)
    G=0.25/54 (Qatari)
    G=0.298722/1496 (1000Genomes)
    G=0.301218/1929 (1000Genomes_30X)
    G=0.3034934/556 (Korea1K)
    G=0.3060547/2214 (Korea4K)
    A=0.3125/10 (Siberian)
    G=0.3150171/923 (KOREAN)
    G=0.3374826/26136 (TOMMO)
    G=0.3497314/42442 (ExAC)
    G=0.3602101/95344 (TOPMED)
    G=0.3687507/54935 (GnomAD_genomes)
    G=0.3819007/4967 (GoESP)
    G=0.3876404/207 (MGP)
    A=0.3925926/106 (SGDP_PRJ)
    G=0.4030824/564903 (GnomAD_exomes)
    G=0.4185668/257 (Vietnamese)
    G=0.429424/1655 (ALSPAC)
    G=0.4310268/1931 (Estonian)
    G=0.4428858/442 (GoNL)
    G=0.4473684/136 (FINRISK)
    G=0.4552319/1688 (TWINSUK)
    G=0.46/276 (NorthernSweden)
    G=0.4615385/24 (PRJEB36033)
    G=0.475/19 (GENOME_DK)
    HGVS:
    2.

    rs58978771 has merged into rs2276918 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      4:186209044 (GRCh38)
      4:187130198 (GRCh37)
      Canonical SPDI:
      NC_000004.12:186209043:A:G
      Gene:
      KLKB1 (Varview), CYP4V2 (Varview)
      Functional Consequence:
      2KB_upstream_variant,intron_variant,upstream_transcript_variant
      Clinical significance:
      benign
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0.3846807/10868 (ALFA)
      G=0./0 (HapMap)
      G=0.25/54 (Qatari)
      G=0.298722/1496 (1000Genomes)
      G=0.301218/1929 (1000Genomes_30X)
      G=0.3034934/556 (Korea1K)
      G=0.3060547/2214 (Korea4K)
      A=0.3125/10 (Siberian)
      G=0.3150171/923 (KOREAN)
      G=0.3374826/26136 (TOMMO)
      G=0.3497314/42442 (ExAC)
      G=0.3602101/95344 (TOPMED)
      G=0.3687507/54935 (GnomAD_genomes)
      G=0.3819007/4967 (GoESP)
      G=0.3876404/207 (MGP)
      A=0.3925926/106 (SGDP_PRJ)
      G=0.4030824/564903 (GnomAD_exomes)
      G=0.4185668/257 (Vietnamese)
      G=0.429424/1655 (ALSPAC)
      G=0.4310268/1931 (Estonian)
      G=0.4428858/442 (GoNL)
      G=0.4473684/136 (FINRISK)
      G=0.4552319/1688 (TWINSUK)
      G=0.46/276 (NorthernSweden)
      G=0.4615385/24 (PRJEB36033)
      G=0.475/19 (GENOME_DK)
      HGVS:

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