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Links from Gene

Items: 1 to 20 of 2646

1.

rs1490852189 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    6:32046680 (GRCh38)
    6:32014457 (GRCh37)
    Canonical SPDI:
    NC_000006.12:32046679:G:A
    Gene:
    TNXB (Varview)
    Functional Consequence:
    genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0./0 (ALFA)
    A=0.000004/1 (TOPMED)
    A=0.000007/1 (GnomAD)
    A=0.000035/1 (TOMMO)
    HGVS:
    2.

    rs1490672555 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>G [Show Flanks]
      Chromosome:
      6:32047259 (GRCh38)
      6:32015036 (GRCh37)
      Canonical SPDI:
      NC_000006.12:32047258:T:G
      Gene:
      TNXB (Varview)
      Functional Consequence:
      genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0./0 (ALFA)
      G=0.000004/1 (TOPMED)
      G=0.000007/1 (GnomAD)
      HGVS:
      3.

      rs1490625056 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A,T [Show Flanks]
        Chromosome:
        6:32045283 (GRCh38)
        6:32013060 (GRCh37)
        Canonical SPDI:
        NC_000006.12:32045282:G:A,NC_000006.12:32045282:G:T
        Gene:
        TNXB (Varview)
        Functional Consequence:
        coding_sequence_variant,synonymous_variant,5_prime_UTR_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0.000061/1 (ALFA)
        A=0.000004/1 (TOPMED)
        A=0.000007/1 (GnomAD)
        HGVS:
        NC_000006.12:g.32045283G>A, NC_000006.12:g.32045283G>T, NC_000006.11:g.32013060G>A, NC_000006.11:g.32013060G>T, NG_008337.2:g.69092C>T, NG_008337.2:g.69092C>A, NM_019105.8:c.10644C>T, NM_019105.8:c.10644C>A, NM_019105.7:c.10644C>T, NM_019105.7:c.10644C>A, NM_019105.6:c.10644C>T, NM_019105.6:c.10644C>A, NM_032470.4:c.-64C>T, NM_032470.4:c.-64C>A, NM_032470.3:c.-64C>T, NM_032470.3:c.-64C>A, NM_001365276.2:c.10650C>T, NM_001365276.2:c.10650C>A, NM_001365276.1:c.10650C>T, NM_001365276.1:c.10650C>A, NT_113891.3:g.3483605G>A, NT_113891.3:g.3483605G>T, NT_113891.2:g.3483711G>A, NT_113891.2:g.3483711G>T, NG_045227.1:g.3776G>A, NG_045227.1:g.3776G>T, NT_167247.2:g.3387316G>A, NT_167247.2:g.3387316G>T, NT_167247.1:g.3392901G>A, NT_167247.1:g.3392901G>T, NT_167245.2:g.3286692G>A, NT_167245.2:g.3286692G>T, NT_167245.1:g.3292277G>A, NT_167245.1:g.3292277G>T, NT_167248.2:g.3268518G>A, NT_167248.2:g.3268518G>T, NT_167248.1:g.3274114G>A, NT_167248.1:g.3274114G>T, NT_167249.2:g.3346470G>A, NT_167249.2:g.3346470G>T, NT_167249.1:g.3345768G>A, NT_167249.1:g.3345768G>T, NM_007116.1:c.-64C>T, NM_007116.1:c.-64C>A
        4.
        5.

        rs1490447229 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          6:32012676 (GRCh38)
          6:31980453 (GRCh37)
          Canonical SPDI:
          NC_000006.12:32012675:G:A
          Gene:
          TNXA (Varview)
          Functional Consequence:
          non_coding_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          A=0.00008/1 (ALFA)
          HGVS:
          7.

          rs1490204324 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            6:32007931 (GRCh38)
            6:31975708 (GRCh37)
            Canonical SPDI:
            NC_000006.12:32007930:A:G
            Gene:
            CYP21A1P (Varview), TNXA (Varview)
            Functional Consequence:
            splice_acceptor_variant,downstream_transcript_variant,500B_downstream_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0./0 (ALFA)
            G=0.000016/2 (GnomAD_exomes)
            G=0.000033/2 (GnomAD)
            HGVS:
            8.

            rs1490146946 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C,G [Show Flanks]
              Chromosome:
              6:32012953 (GRCh38)
              6:31980730 (GRCh37)
              Canonical SPDI:
              NC_000006.12:32012952:T:C,NC_000006.12:32012952:T:G
              Gene:
              C4B (Varview), TNXA (Varview)
              Functional Consequence:
              2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0./0 (ALFA)
              C=0.000004/1 (TOPMED)
              G=0.000008/1 (GnomAD)
              HGVS:
              9.

              rs1490103997 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>C [Show Flanks]
                Chromosome:
                6:32013632 (GRCh38)
                6:31981409 (GRCh37)
                Canonical SPDI:
                NC_000006.12:32013631:G:C
                Gene:
                C4B (Varview), TNXA (Varview)
                Functional Consequence:
                2KB_upstream_variant,upstream_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                C=0./0 (ALFA)
                HGVS:
                11.

                rs1489965462 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>A [Show Flanks]
                  Chromosome:
                  6:32011475 (GRCh38)
                  6:31979252 (GRCh37)
                  Canonical SPDI:
                  NC_000006.12:32011474:C:A
                  Gene:
                  TNXA (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  A=0./0 (ALFA)
                  HGVS:
                  13.
                  14.

                  rs1488714386 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>T [Show Flanks]
                    Chromosome:
                    6:32008988 (GRCh38)
                    6:31976765 (GRCh37)
                    Canonical SPDI:
                    NC_000006.12:32008987:G:T
                    Gene:
                    CYP21A1P (Varview), TNXA (Varview)
                    Functional Consequence:
                    downstream_transcript_variant,intron_variant,500B_downstream_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000004/1 (TOPMED)
                    T=0.000008/1 (GnomAD)
                    HGVS:
                    15.

                    rs1488509344 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>T [Show Flanks]
                      Chromosome:
                      6:32011248 (GRCh38)
                      6:31979025 (GRCh37)
                      Canonical SPDI:
                      NC_000006.12:32011247:A:T
                      Gene:
                      TNXA (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      T=0./0 (ALFA)
                      HGVS:
                      18.
                      20.

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