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Links from Nucleotide

Items: 11

1.

rs1319535190 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>T [Show Flanks]
    Chromosome:
    10:67403377 (GRCh38)
    10:69163135 (GRCh37)
    Canonical SPDI:
    NC_000010.11:67403376:G:T
    Gene:
    CTNNA3 (Varview), MIR7151 (Varview)
    Functional Consequence:
    intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    T=0.000004/1 (TOPMED)
    T=0.000007/1 (GnomAD)
    HGVS:
    2.

    rs1288548415 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      10:67403369 (GRCh38)
      10:69163127 (GRCh37)
      Canonical SPDI:
      NC_000010.11:67403368:T:C
      Gene:
      CTNNA3 (Varview), MIR7151 (Varview)
      Functional Consequence:
      non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0./0 (ALFA)
      C=0.000004/1 (TOPMED)
      C=0.000007/1 (GnomAD)
      HGVS:
      3.

      rs1275978712 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>C [Show Flanks]
        Chromosome:
        10:67403380 (GRCh38)
        10:69163138 (GRCh37)
        Canonical SPDI:
        NC_000010.11:67403379:G:C
        Gene:
        CTNNA3 (Varview), MIR7151 (Varview)
        Functional Consequence:
        non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0./0 (ALFA)
        C=0.000004/1 (TOPMED)
        C=0.000007/1 (GnomAD)
        HGVS:
        4.

        rs1274975051 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          C>- [Show Flanks]
          Chromosome:
          10:67403355 (GRCh38)
          10:69163113 (GRCh37)
          Canonical SPDI:
          NC_000010.11:67403354:CCC:CC
          Gene:
          CTNNA3 (Varview), MIR7151 (Varview)
          Functional Consequence:
          genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          CC=0.000071/1 (ALFA)
          -=0.00003/8 (TOPMED)
          -=0.000036/5 (GnomAD)
          HGVS:
          5.

          rs1269509264 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>A [Show Flanks]
            Chromosome:
            10:67403356 (GRCh38)
            10:69163114 (GRCh37)
            Canonical SPDI:
            NC_000010.11:67403355:C:A
            Gene:
            CTNNA3 (Varview), MIR7151 (Varview)
            Functional Consequence:
            genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            A=0./0 (ALFA)
            A=0.000004/1 (TOPMED)
            HGVS:
            6.

            rs1195917635 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              10:67403371 (GRCh38)
              10:69163129 (GRCh37)
              Canonical SPDI:
              NC_000010.11:67403370:G:A
              Gene:
              CTNNA3 (Varview), MIR7151 (Varview)
              Functional Consequence:
              genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0./0 (ALFA)
              A=0.000004/1 (TOPMED)
              A=0.000007/1 (GnomAD)
              HGVS:
              7.

              rs1044349217 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>A [Show Flanks]
                Chromosome:
                10:67403385 (GRCh38)
                10:69163143 (GRCh37)
                Canonical SPDI:
                NC_000010.11:67403384:C:A
                Gene:
                CTNNA3 (Varview), MIR7151 (Varview)
                Functional Consequence:
                non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
                Validated:
                by frequency,by cluster
                MAF:
                A=0.0038/7 (Korea1K)
                C=0.5/1 (Siberian)
                HGVS:
                8.

                rs999079918 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A,T [Show Flanks]
                  Chromosome:
                  10:67403368 (GRCh38)
                  10:69163126 (GRCh37)
                  Canonical SPDI:
                  NC_000010.11:67403367:G:A,NC_000010.11:67403367:G:T
                  Gene:
                  CTNNA3 (Varview), MIR7151 (Varview)
                  Functional Consequence:
                  intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000008/2 (TOPMED)
                  A=0.000035/1 (TOMMO)
                  HGVS:
                  9.

                  rs567982124 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    10:67403393 (GRCh38)
                    10:69163151 (GRCh37)
                    Canonical SPDI:
                    NC_000010.11:67403392:T:C
                    Gene:
                    CTNNA3 (Varview), MIR7151 (Varview)
                    Functional Consequence:
                    genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0.000071/1 (ALFA)
                    C=0.000107/15 (GnomAD)
                    C=0.000136/36 (TOPMED)
                    C=0.000781/4 (1000Genomes)
                    HGVS:
                    10.

                    rs548181540 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>T [Show Flanks]
                      Chromosome:
                      10:67403364 (GRCh38)
                      10:69163122 (GRCh37)
                      Canonical SPDI:
                      NC_000010.11:67403363:G:T
                      Gene:
                      CTNNA3 (Varview), MIR7151 (Varview)
                      Functional Consequence:
                      intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000035/1 (TOMMO)
                      T=0.000057/15 (TOPMED)
                      T=0.000064/9 (GnomAD)
                      T=0.000546/1 (Korea1K)
                      T=0.000684/2 (KOREAN)
                      T=0.000937/5 (1000Genomes)
                      T=0.009346/2 (Vietnamese)
                      HGVS:
                      11.

                      rs140981160 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        10:67403355 (GRCh38)
                        10:69163113 (GRCh37)
                        Canonical SPDI:
                        NC_000010.11:67403354:C:T
                        Gene:
                        CTNNA3 (Varview), MIR7151 (Varview)
                        Functional Consequence:
                        intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0.003017/57 (ALFA)
                        T=0.001339/6 (Estonian)
                        T=0.001667/1 (NorthernSweden)
                        T=0.002186/11 (1000Genomes)
                        T=0.003381/895 (TOPMED)
                        T=0.003451/484 (GnomAD)
                        T=0.004045/15 (TWINSUK)
                        T=0.004411/17 (ALSPAC)
                        T=0.009018/9 (GoNL)
                        T=0.025/1 (GENOME_DK)
                        HGVS:

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