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Links from Nucleotide

Items: 1 to 20 of 288

1.

rs1487055789 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    X:107981945 (GRCh38)
    X:107225175 (GRCh37)
    Canonical SPDI:
    NC_000023.11:107981944:G:A
    Gene:
    TEX13B (Varview), LOC112267910 (Varview)
    Functional Consequence:
    intron_variant,coding_sequence_variant,synonymous_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0./0 (ALFA)
    A=0.000011/2 (GnomAD_exomes)
    A=0.000034/9 (TOPMED)
    HGVS:
    2.

    rs1485227138 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      X:107982321 (GRCh38)
      X:107225551 (GRCh37)
      Canonical SPDI:
      NC_000023.11:107982320:G:A
      Gene:
      TEX13B (Varview), LOC112267910 (Varview)
      Functional Consequence:
      intron_variant,5_prime_UTR_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0./0 (ALFA)
      A=0.000004/1 (TOPMED)
      A=0.00001/1 (GnomAD)
      HGVS:
      3.

      rs1481947510 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        GTTC>- [Show Flanks]
        Chromosome:
        X:107980959 (GRCh38)
        X:107224189 (GRCh37)
        Canonical SPDI:
        NC_000023.11:107980958:GTTC:
        Gene:
        TEX13B (Varview), LOC112267910 (Varview)
        Functional Consequence:
        intron_variant,3_prime_UTR_variant
        Validated:
        by frequency,by alfa
        MAF:
        -=0./0 (ALFA)
        -=0.000004/1 (TOPMED)
        HGVS:
        4.

        rs1475995894 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>C [Show Flanks]
          Chromosome:
          X:107980928 (GRCh38)
          X:107224158 (GRCh37)
          Canonical SPDI:
          NC_000023.11:107980927:A:C
          Gene:
          TEX13B (Varview), LOC112267910 (Varview)
          Functional Consequence:
          intron_variant,3_prime_UTR_variant
          Validated:
          by frequency,by alfa
          MAF:
          C=0./0 (ALFA)
          C=0.000008/2 (TOPMED)
          HGVS:
          5.

          rs1471037577 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>C [Show Flanks]
            Chromosome:
            X:107981326 (GRCh38)
            X:107224556 (GRCh37)
            Canonical SPDI:
            NC_000023.11:107981325:G:C
            Gene:
            TEX13B (Varview), LOC112267910 (Varview)
            Functional Consequence:
            synonymous_variant,intron_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0./0 (ALFA)
            C=0.000004/1 (TOPMED)
            C=0.00001/1 (GnomAD)
            HGVS:
            6.

            rs1465957338 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              X:107981669 (GRCh38)
              X:107224899 (GRCh37)
              Canonical SPDI:
              NC_000023.11:107981668:G:A
              Gene:
              TEX13B (Varview), LOC112267910 (Varview)
              Functional Consequence:
              synonymous_variant,intron_variant,coding_sequence_variant
              Validated:
              by frequency
              MAF:
              A=0.000006/1 (GnomAD_exomes)
              HGVS:
              7.

              rs1464916078 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>C [Show Flanks]
                Chromosome:
                X:107982322 (GRCh38)
                X:107225552 (GRCh37)
                Canonical SPDI:
                NC_000023.11:107982321:G:C
                Gene:
                TEX13B (Varview), LOC112267910 (Varview)
                Functional Consequence:
                intron_variant,5_prime_UTR_variant
                Validated:
                by frequency,by alfa
                MAF:
                C=0./0 (ALFA)
                C=0.000029/3 (GnomAD)
                HGVS:
                8.

                rs1464346013 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  X:107981748 (GRCh38)
                  X:107224978 (GRCh37)
                  Canonical SPDI:
                  NC_000023.11:107981747:A:G
                  Gene:
                  TEX13B (Varview), LOC112267910 (Varview)
                  Functional Consequence:
                  missense_variant,intron_variant,coding_sequence_variant
                  Validated:
                  by frequency
                  MAF:
                  G=0.000005/1 (GnomAD_exomes)
                  HGVS:
                  9.

                  rs1462730038 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    X:107981941 (GRCh38)
                    X:107225171 (GRCh37)
                    Canonical SPDI:
                    NC_000023.11:107981940:C:T
                    Gene:
                    TEX13B (Varview), LOC112267910 (Varview)
                    Functional Consequence:
                    missense_variant,intron_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000004/1 (TOPMED)
                    T=0.00001/1 (GnomAD)
                    HGVS:
                    10.

                    rs1462038188 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A,C [Show Flanks]
                      Chromosome:
                      X:107982147 (GRCh38)
                      X:107225377 (GRCh37)
                      Canonical SPDI:
                      NC_000023.11:107982146:G:A,NC_000023.11:107982146:G:C
                      Gene:
                      TEX13B (Varview), LOC112267910 (Varview)
                      Functional Consequence:
                      intron_variant,5_prime_UTR_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0.000044/1 (ALFA)
                      A=0.000013/2 (GnomAD_exomes)
                      A=0.000019/2 (GnomAD)
                      A=0.00003/8 (TOPMED)
                      HGVS:
                      11.

                      rs1453941019 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        X:107982090 (GRCh38)
                        X:107225320 (GRCh37)
                        Canonical SPDI:
                        NC_000023.11:107982089:C:T
                        Gene:
                        TEX13B (Varview), LOC112267910 (Varview)
                        Functional Consequence:
                        intron_variant,coding_sequence_variant,missense_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000008/2 (TOPMED)
                        T=0.000019/2 (GnomAD)
                        HGVS:
                        12.

                        rs1453336800 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          X:107981466 (GRCh38)
                          X:107224696 (GRCh37)
                          Canonical SPDI:
                          NC_000023.11:107981465:C:T
                          Gene:
                          TEX13B (Varview), LOC112267910 (Varview)
                          Functional Consequence:
                          intron_variant,coding_sequence_variant,missense_variant
                          HGVS:
                          13.

                          rs1449265651 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            X:107982044 (GRCh38)
                            X:107225274 (GRCh37)
                            Canonical SPDI:
                            NC_000023.11:107982043:G:A
                            Gene:
                            TEX13B (Varview), LOC112267910 (Varview)
                            Functional Consequence:
                            intron_variant,coding_sequence_variant,synonymous_variant
                            Validated:
                            by frequency
                            MAF:
                            A=0.000005/1 (GnomAD_exomes)
                            HGVS:
                            14.

                            rs1443355218 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              X:107981262 (GRCh38)
                              X:107224492 (GRCh37)
                              Canonical SPDI:
                              NC_000023.11:107981261:G:A
                              Gene:
                              TEX13B (Varview), LOC112267910 (Varview)
                              Functional Consequence:
                              intron_variant,coding_sequence_variant,missense_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000004/1 (TOPMED)
                              HGVS:
                              15.

                              rs1438551373 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                X:107981927 (GRCh38)
                                X:107225157 (GRCh37)
                                Canonical SPDI:
                                NC_000023.11:107981926:G:A
                                Gene:
                                TEX13B (Varview), LOC112267910 (Varview)
                                Functional Consequence:
                                intron_variant,coding_sequence_variant,synonymous_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                A=0./0 (ALFA)
                                HGVS:
                                16.

                                rs1437992262 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  X:107981424 (GRCh38)
                                  X:107224654 (GRCh37)
                                  Canonical SPDI:
                                  NC_000023.11:107981423:C:T
                                  Gene:
                                  TEX13B (Varview), LOC112267910 (Varview)
                                  Functional Consequence:
                                  intron_variant,coding_sequence_variant,missense_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000004/1 (TOPMED)
                                  T=0.000005/1 (GnomAD_exomes)
                                  HGVS:
                                  17.

                                  rs1433011579 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    X:107981098 (GRCh38)
                                    X:107224328 (GRCh37)
                                    Canonical SPDI:
                                    NC_000023.11:107981097:A:G
                                    Gene:
                                    TEX13B (Varview), LOC112267910 (Varview)
                                    Functional Consequence:
                                    synonymous_variant,intron_variant,coding_sequence_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    G=0.000005/1 (GnomAD_exomes)
                                    HGVS:
                                    18.

                                    rs1432098703 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>C [Show Flanks]
                                      Chromosome:
                                      X:107981747 (GRCh38)
                                      X:107224977 (GRCh37)
                                      Canonical SPDI:
                                      NC_000023.11:107981746:G:C
                                      Gene:
                                      TEX13B (Varview), LOC112267910 (Varview)
                                      Functional Consequence:
                                      missense_variant,intron_variant,coding_sequence_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      C=0.000005/1 (GnomAD_exomes)
                                      HGVS:
                                      19.

                                      rs1424770648 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        X:107981881 (GRCh38)
                                        X:107225111 (GRCh37)
                                        Canonical SPDI:
                                        NC_000023.11:107981880:C:T
                                        Gene:
                                        TEX13B (Varview), LOC112267910 (Varview)
                                        Functional Consequence:
                                        missense_variant,intron_variant,coding_sequence_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        T=0.000005/1 (GnomAD_exomes)
                                        HGVS:
                                        20.

                                        rs1424586941 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          X:107981980 (GRCh38)
                                          X:107225210 (GRCh37)
                                          Canonical SPDI:
                                          NC_000023.11:107981979:G:A
                                          Gene:
                                          TEX13B (Varview), LOC112267910 (Varview)
                                          Functional Consequence:
                                          missense_variant,intron_variant,coding_sequence_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          A=0.000005/1 (GnomAD_exomes)
                                          HGVS:

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