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Links from Nucleotide

Items: 1 to 20 of 211

1.

rs1479992140 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    15:79236754 (GRCh38)
    15:79529096 (GRCh37)
    Canonical SPDI:
    NC_000015.10:79236753:C:T
    Gene:
    ANKRD34C-AS1 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    T=0.000007/1 (GnomAD)
    T=0.000011/3 (TOPMED)
    HGVS:
    2.

    rs1478149548 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>C [Show Flanks]
      Chromosome:
      15:79236570 (GRCh38)
      15:79528912 (GRCh37)
      Canonical SPDI:
      NC_000015.10:79236569:A:C
      Gene:
      ANKRD34C-AS1 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0./0 (ALFA)
      C=0.000007/1 (GnomAD)
      C=0.000008/2 (TOPMED)
      HGVS:
      3.

      rs1476122155 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>A,G [Show Flanks]
        Chromosome:
        15:79237087 (GRCh38)
        15:79529429 (GRCh37)
        Canonical SPDI:
        NC_000015.10:79237086:C:A,NC_000015.10:79237086:C:G
        Gene:
        ANKRD34C-AS1 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0./0 (ALFA)
        HGVS:
        4.

        rs1471065842 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          15:79236555 (GRCh38)
          15:79528897 (GRCh37)
          Canonical SPDI:
          NC_000015.10:79236554:C:T
          Gene:
          ANKRD34C-AS1 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          T=0./0 (ALFA)
          T=0.000004/1 (TOPMED)
          HGVS:
          5.

          rs1468435127 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            15:79236343 (GRCh38)
            15:79528685 (GRCh37)
            Canonical SPDI:
            NC_000015.10:79236342:C:T
            Gene:
            ANKRD34C-AS1 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            T=0.000014/2 (GnomAD)
            T=0.000026/7 (TOPMED)
            HGVS:
            6.

            rs1463462727 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              15:79236782 (GRCh38)
              15:79529124 (GRCh37)
              Canonical SPDI:
              NC_000015.10:79236781:A:G
              Gene:
              ANKRD34C-AS1 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0./0 (ALFA)
              G=0.000057/8 (GnomAD)
              G=0.00006/16 (TOPMED)
              HGVS:
              7.

              rs1461068873 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>C [Show Flanks]
                Chromosome:
                15:79237133 (GRCh38)
                15:79529475 (GRCh37)
                Canonical SPDI:
                NC_000015.10:79237132:G:C
                Gene:
                ANKRD34C-AS1 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                C=0./0 (ALFA)
                C=0.000008/2 (TOPMED)
                HGVS:
                8.

                rs1457965830 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>A [Show Flanks]
                  Chromosome:
                  15:79236674 (GRCh38)
                  15:79529016 (GRCh37)
                  Canonical SPDI:
                  NC_000015.10:79236673:C:A
                  Gene:
                  ANKRD34C-AS1 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000014/2 (GnomAD)
                  A=0.000015/4 (TOPMED)
                  HGVS:
                  9.

                  rs1457167848 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>A,T [Show Flanks]
                    Chromosome:
                    15:79236865 (GRCh38)
                    15:79529207 (GRCh37)
                    Canonical SPDI:
                    NC_000015.10:79236864:C:A,NC_000015.10:79236864:C:T
                    Gene:
                    ANKRD34C-AS1 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    HGVS:
                    10.

                    rs1451619255 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>G [Show Flanks]
                      Chromosome:
                      15:79236544 (GRCh38)
                      15:79528886 (GRCh37)
                      Canonical SPDI:
                      NC_000015.10:79236543:T:G
                      Gene:
                      ANKRD34C-AS1 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000004/1 (TOPMED)
                      HGVS:
                      11.

                      rs1450885206 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        15:79236617 (GRCh38)
                        15:79528959 (GRCh37)
                        Canonical SPDI:
                        NC_000015.10:79236616:G:A
                        Gene:
                        ANKRD34C-AS1 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000034/9 (TOPMED)
                        A=0.000043/6 (GnomAD)
                        HGVS:
                        12.

                        rs1447750831 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A,T [Show Flanks]
                          Chromosome:
                          15:79236710 (GRCh38)
                          15:79529052 (GRCh37)
                          Canonical SPDI:
                          NC_000015.10:79236709:G:A,NC_000015.10:79236709:G:T
                          Gene:
                          ANKRD34C-AS1 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000007/1 (GnomAD)
                          T=0.000015/4 (TOPMED)
                          HGVS:
                          13.

                          rs1447607634 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A,T [Show Flanks]
                            Chromosome:
                            15:79236624 (GRCh38)
                            15:79528966 (GRCh37)
                            Canonical SPDI:
                            NC_000015.10:79236623:G:A,NC_000015.10:79236623:G:T
                            Gene:
                            ANKRD34C-AS1 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0.000054/1 (ALFA)
                            A=0.000121/17 (GnomAD)
                            A=0.001667/1 (NorthernSweden)
                            HGVS:
                            14.

                            rs1443800379 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>C [Show Flanks]
                              Chromosome:
                              15:79237285 (GRCh38)
                              15:79529627 (GRCh37)
                              Canonical SPDI:
                              NC_000015.10:79237284:G:C
                              Gene:
                              ANKRD34C-AS1 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000007/1 (GnomAD)
                              C=0.000015/4 (TOPMED)
                              HGVS:
                              15.

                              rs1443400604 has merged into rs1166007139 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                CCTCCT>-,CCT [Show Flanks]
                                Chromosome:
                                15:79236728 (GRCh38)
                                15:79529070 (GRCh37)
                                Canonical SPDI:
                                NC_000015.10:79236718:CCTCCTCCTCCTCCT:CCTCCTCCT,NC_000015.10:79236718:CCTCCTCCTCCTCCT:CCTCCTCCTCCT
                                Gene:
                                ANKRD34C-AS1 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                CCTCCTCCTCCT=0./0 (ALFA)
                                HGVS:
                                16.

                                rs1439116803 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  15:79236367 (GRCh38)
                                  15:79528709 (GRCh37)
                                  Canonical SPDI:
                                  NC_000015.10:79236366:C:T
                                  Gene:
                                  ANKRD34C-AS1 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000007/1 (GnomAD)
                                  T=0.00463/1 (Vietnamese)
                                  HGVS:
                                  17.

                                  rs1435066654 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    AGT>- [Show Flanks]
                                    Chromosome:
                                    15:79236748 (GRCh38)
                                    15:79529090 (GRCh37)
                                    Canonical SPDI:
                                    NC_000015.10:79236745:GTAGT:GT
                                    Gene:
                                    ANKRD34C-AS1 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    GT=0.000071/1 (ALFA)
                                    -=0.000157/22 (GnomAD)
                                    -=0.000196/52 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1432107863 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      15:79236553 (GRCh38)
                                      15:79528895 (GRCh37)
                                      Canonical SPDI:
                                      NC_000015.10:79236552:T:C
                                      Gene:
                                      ANKRD34C-AS1 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000008/2 (TOPMED)
                                      C=0.000014/2 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1423888659 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        15:79236411 (GRCh38)
                                        15:79528753 (GRCh37)
                                        Canonical SPDI:
                                        NC_000015.10:79236410:T:C
                                        Gene:
                                        ANKRD34C-AS1 (Varview)
                                        Functional Consequence:
                                        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:
                                        20.

                                        rs1421274033 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          15:79236738 (GRCh38)
                                          15:79529080 (GRCh37)
                                          Canonical SPDI:
                                          NC_000015.10:79236737:C:T
                                          Gene:
                                          ANKRD34C-AS1 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          T=0./0 (ALFA)
                                          HGVS:

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