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Items: 3

1.

rs2267437 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>A,G [Show Flanks]
    Chromosome:
    22:41620695 (GRCh38)
    22:42016699 (GRCh37)
    Canonical SPDI:
    NC_000022.11:41620694:C:A,NC_000022.11:41620694:C:G
    Gene:
    XRCC6 (Varview), DESI1 (Varview)
    Functional Consequence:
    2KB_upstream_variant,upstream_transcript_variant,intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0.264119/3227 (ALFA)
    G=0.020599/11 (MGP)
    G=0.092593/20 (Vietnamese)
    G=0.232745/18237 (PAGE_STUDY)
    G=0.255934/1282 (1000Genomes)
    G=0.255973/750 (KOREAN)
    G=0.287037/62 (Qatari)
    G=0.287037/93 (HapMap)
    G=0.314477/83239 (TOPMED)
    G=0.334661/46880 (GnomAD)
    C=0.352941/12 (Siberian)
    G=0.363557/1660 (GoESP)
    G=0.364215/6104 (TOMMO)
    C=0.407258/101 (SGDP_PRJ)
    G=0.44/264 (NorthernSweden)
    G=0.44136/1701 (ALSPAC)
    G=0.444984/1650 (TWINSUK)
    C=0.475/19 (GENOME_DK)
    G=0.487723/2185 (Estonian)
    HGVS:
    2.

    rs36218281 has merged into rs2267437 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>A,G [Show Flanks]
      Chromosome:
      22:41620695 (GRCh38)
      22:42016699 (GRCh37)
      Canonical SPDI:
      NC_000022.11:41620694:C:A,NC_000022.11:41620694:C:G
      Gene:
      XRCC6 (Varview), DESI1 (Varview)
      Functional Consequence:
      2KB_upstream_variant,upstream_transcript_variant,intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0.264119/3227 (ALFA)
      G=0.020599/11 (MGP)
      G=0.092593/20 (Vietnamese)
      G=0.232745/18237 (PAGE_STUDY)
      G=0.255934/1282 (1000Genomes)
      G=0.255973/750 (KOREAN)
      G=0.287037/62 (Qatari)
      G=0.287037/93 (HapMap)
      G=0.314477/83239 (TOPMED)
      G=0.334661/46880 (GnomAD)
      C=0.352941/12 (Siberian)
      G=0.363557/1660 (GoESP)
      G=0.364215/6104 (TOMMO)
      C=0.407258/101 (SGDP_PRJ)
      G=0.44/264 (NorthernSweden)
      G=0.44136/1701 (ALSPAC)
      G=0.444984/1650 (TWINSUK)
      C=0.475/19 (GENOME_DK)
      G=0.487723/2185 (Estonian)
      HGVS:
      3.

      rs17002529 has merged into rs2267437 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>A,G [Show Flanks]
        Chromosome:
        22:41620695 (GRCh38)
        22:42016699 (GRCh37)
        Canonical SPDI:
        NC_000022.11:41620694:C:A,NC_000022.11:41620694:C:G
        Gene:
        XRCC6 (Varview), DESI1 (Varview)
        Functional Consequence:
        2KB_upstream_variant,upstream_transcript_variant,intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0.264119/3227 (ALFA)
        G=0.020599/11 (MGP)
        G=0.092593/20 (Vietnamese)
        G=0.232745/18237 (PAGE_STUDY)
        G=0.255934/1282 (1000Genomes)
        G=0.255973/750 (KOREAN)
        G=0.287037/62 (Qatari)
        G=0.287037/93 (HapMap)
        G=0.314477/83239 (TOPMED)
        G=0.334661/46880 (GnomAD)
        C=0.352941/12 (Siberian)
        G=0.363557/1660 (GoESP)
        G=0.364215/6104 (TOMMO)
        C=0.407258/101 (SGDP_PRJ)
        G=0.44/264 (NorthernSweden)
        G=0.44136/1701 (ALSPAC)
        G=0.444984/1650 (TWINSUK)
        C=0.475/19 (GENOME_DK)
        G=0.487723/2185 (Estonian)
        HGVS:

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