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Links from Nucleotide

Items: 1 to 20 of 788

2.

rs1487439796 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    6:32894928 (GRCh38)
    6:32862705 (GRCh37)
    Canonical SPDI:
    NC_000006.12:32894927:G:A
    Gene:
    LOC100294145 (Varview)
    Functional Consequence:
    splice_donor_variant,non_coding_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0.000071/1 (ALFA)
    A=0.000008/2 (TOPMED)
    A=0.000021/3 (GnomAD)
    HGVS:
    4.
    5.

    rs1482945120 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>T [Show Flanks]
      Chromosome:
      6:32903334 (GRCh38)
      6:32871111 (GRCh37)
      Canonical SPDI:
      NC_000006.12:32903333:G:T
      Gene:
      LOC100294145 (Varview)
      Functional Consequence:
      non_coding_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0.000162/3 (ALFA)
      T=0.000071/10 (GnomAD)
      T=0.00067/3 (Estonian)
      HGVS:
      6.

      rs1481806486 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        6:32902631 (GRCh38)
        6:32870408 (GRCh37)
        Canonical SPDI:
        NC_000006.12:32902630:C:T
        Gene:
        LOC100294145 (Varview)
        Functional Consequence:
        non_coding_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        T=0.000008/2 (TOPMED)
        T=0.000014/2 (GnomAD)
        T=0.00006/1 (TOMMO)
        HGVS:
        8.
        9.

        rs1475782531 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          6:32894560 (GRCh38)
          6:32862337 (GRCh37)
          Canonical SPDI:
          NC_000006.12:32894559:C:T
          Gene:
          LOC100294145 (Varview)
          Functional Consequence:
          non_coding_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0.000447/2 (ALFA)
          T=0.000007/1 (GnomAD)
          T=0.000446/2 (Estonian)
          HGVS:
          10.

          rs1475479395 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            6:32901642 (GRCh38)
            6:32869419 (GRCh37)
            Canonical SPDI:
            NC_000006.12:32901641:T:C
            Gene:
            LOC100294145 (Varview)
            Functional Consequence:
            non_coding_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0.000071/1 (ALFA)
            C=0.000007/1 (GnomAD)
            C=0.000015/4 (TOPMED)
            HGVS:
            11.
            13.
            14.
            15.

            rs1471487553 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              6:32901381 (GRCh38)
              6:32869158 (GRCh37)
              Canonical SPDI:
              NC_000006.12:32901380:A:G
              Gene:
              LOC100294145 (Varview)
              Functional Consequence:
              non_coding_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0./0 (ALFA)
              G=0.000004/1 (TOPMED)
              G=0.000007/1 (GnomAD)
              HGVS:
              16.
              17.

              rs1470191176 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>G [Show Flanks]
                Chromosome:
                6:32894855 (GRCh38)
                6:32862632 (GRCh37)
                Canonical SPDI:
                NC_000006.12:32894854:C:G
                Gene:
                LOC100294145 (Varview)
                Functional Consequence:
                non_coding_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                G=0.000004/1 (TOPMED)
                G=0.000007/1 (GnomAD)
                HGVS:
                18.
                19.

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