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Links from Nucleotide

Items: 1 to 20 of 424

1.

rs1489459526 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    ->C [Show Flanks]
    Chromosome:
    22:29026665 (GRCh38)
    22:29422654 (GRCh37)
    Canonical SPDI:
    NC_000022.11:29026665:C:CC
    Gene:
    ZNRF3 (Varview), ZNRF3-AS1 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    CC=0./0 (ALFA)
    C=0.000008/2 (TOPMED)
    HGVS:
    2.

    rs1487464596 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>C [Show Flanks]
      Chromosome:
      22:29025874 (GRCh38)
      22:29421862 (GRCh37)
      Canonical SPDI:
      NC_000022.11:29025873:G:C
      Gene:
      ZNRF3 (Varview), ZNRF3-AS1 (Varview)
      Functional Consequence:
      non_coding_transcript_variant,intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      C=0.000071/1 (ALFA)
      C=0.000004/1 (TOPMED)
      HGVS:
      3.

      rs1487032545 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>C [Show Flanks]
        Chromosome:
        22:29026397 (GRCh38)
        22:29422385 (GRCh37)
        Canonical SPDI:
        NC_000022.11:29026396:A:C
        Gene:
        ZNRF3 (Varview), ZNRF3-AS1 (Varview)
        Functional Consequence:
        non_coding_transcript_variant,intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0./0 (ALFA)
        C=0.00003/8 (TOPMED)
        C=0.000036/5 (GnomAD)
        HGVS:
        4.

        rs1486915824 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>C,T [Show Flanks]
          Chromosome:
          22:29025168 (GRCh38)
          22:29421156 (GRCh37)
          Canonical SPDI:
          NC_000022.11:29025167:G:C,NC_000022.11:29025167:G:T
          Gene:
          ZNRF3 (Varview), ZNRF3-AS1 (Varview)
          Functional Consequence:
          non_coding_transcript_variant,intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          T=0./0 (ALFA)
          HGVS:
          5.

          rs1486188486 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            22:29025615 (GRCh38)
            22:29421603 (GRCh37)
            Canonical SPDI:
            NC_000022.11:29025614:A:G
            Gene:
            ZNRF3 (Varview), ZNRF3-AS1 (Varview)
            Functional Consequence:
            non_coding_transcript_variant,intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0./0 (ALFA)
            G=0.000004/1 (TOPMED)
            G=0.000014/2 (GnomAD)
            HGVS:
            6.

            rs1486117974 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              22:29026845 (GRCh38)
              22:29422833 (GRCh37)
              Canonical SPDI:
              NC_000022.11:29026844:C:T
              Gene:
              ZNRF3 (Varview), ZNRF3-AS1 (Varview)
              Functional Consequence:
              non_coding_transcript_variant,intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0.000007/1 (GnomAD)
              T=0.000023/6 (TOPMED)
              HGVS:
              7.

              rs1484815063 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                GA>- [Show Flanks]
                Chromosome:
                22:29025168 (GRCh38)
                22:29421156 (GRCh37)
                Canonical SPDI:
                NC_000022.11:29025164:AGAGA:AGA
                Gene:
                ZNRF3 (Varview), ZNRF3-AS1 (Varview)
                Functional Consequence:
                non_coding_transcript_variant,intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                AGA=0.000066/1 (ALFA)
                -=0.000004/1 (TOPMED)
                -=0.000223/1 (Estonian)
                HGVS:
                8.

                rs1481369787 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>A [Show Flanks]
                  Chromosome:
                  22:29025822 (GRCh38)
                  22:29421810 (GRCh37)
                  Canonical SPDI:
                  NC_000022.11:29025821:T:A
                  Gene:
                  ZNRF3 (Varview), ZNRF3-AS1 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  A=0.000071/1 (ALFA)
                  A=0.000004/1 (TOPMED)
                  HGVS:
                  9.

                  rs1480002452 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    22:29026078 (GRCh38)
                    22:29422066 (GRCh37)
                    Canonical SPDI:
                    NC_000022.11:29026077:A:G
                    Gene:
                    ZNRF3 (Varview), ZNRF3-AS1 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000007/1 (GnomAD)
                    G=0.000015/4 (TOPMED)
                    HGVS:
                    10.

                    rs1476479806 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      22:29025264 (GRCh38)
                      22:29421252 (GRCh37)
                      Canonical SPDI:
                      NC_000022.11:29025263:G:A
                      Gene:
                      ZNRF3 (Varview), ZNRF3-AS1 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000004/1 (TOPMED)
                      A=0.000014/2 (GnomAD)
                      HGVS:
                      11.

                      rs1475687091 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        22:29025191 (GRCh38)
                        22:29421179 (GRCh37)
                        Canonical SPDI:
                        NC_000022.11:29025190:A:G
                        Gene:
                        ZNRF3 (Varview), ZNRF3-AS1 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,intron_variant
                        Validated:
                        by frequency,by cluster
                        MAF:
                        G=0.00057/9 (TOMMO)
                        HGVS:
                        12.

                        rs1474543946 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A [Show Flanks]
                          Chromosome:
                          22:29026351 (GRCh38)
                          22:29422339 (GRCh37)
                          Canonical SPDI:
                          NC_000022.11:29026350:C:A
                          Gene:
                          ZNRF3 (Varview), ZNRF3-AS1 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          A=0./0 (ALFA)
                          HGVS:
                          13.

                          rs1473581963 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            AA>-,A [Show Flanks]
                            Chromosome:
                            22:29031440 (GRCh38)
                            22:29427428 (GRCh37)
                            Canonical SPDI:
                            NC_000022.11:29031437:AAAA:AA,NC_000022.11:29031437:AAAA:AAA
                            Gene:
                            ZNRF3 (Varview), ZNRF3-AS1 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            AAA=0./0 (ALFA)
                            -=0./0 (GnomAD)
                            -=0.000008/2 (TOPMED)
                            HGVS:
                            14.

                            rs1471999244 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              22:29025162 (GRCh38)
                              22:29421150 (GRCh37)
                              Canonical SPDI:
                              NC_000022.11:29025161:A:G
                              Gene:
                              ZNRF3 (Varview), ZNRF3-AS1 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000008/2 (TOPMED)
                              HGVS:
                              15.

                              rs1469635626 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                22:29025514 (GRCh38)
                                22:29421502 (GRCh37)
                                Canonical SPDI:
                                NC_000022.11:29025513:T:C
                                Gene:
                                ZNRF3 (Varview), ZNRF3-AS1 (Varview)
                                Functional Consequence:
                                non_coding_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:
                                16.

                                rs1466985904 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  22:29026536 (GRCh38)
                                  22:29422524 (GRCh37)
                                  Canonical SPDI:
                                  NC_000022.11:29026535:G:A
                                  Gene:
                                  ZNRF3 (Varview), ZNRF3-AS1 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000004/1 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1466389980 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    22:29031451 (GRCh38)
                                    22:29427439 (GRCh37)
                                    Canonical SPDI:
                                    NC_000022.11:29031450:G:A
                                    Gene:
                                    ZNRF3 (Varview), ZNRF3-AS1 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0.000216/4 (ALFA)
                                    A=0.000008/2 (TOPMED)
                                    A=0.000043/6 (GnomAD)
                                    A=0.000893/4 (Estonian)
                                    HGVS:
                                    18.

                                    rs1464040221 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>G,T [Show Flanks]
                                      Chromosome:
                                      22:29025950 (GRCh38)
                                      22:29421938 (GRCh37)
                                      Canonical SPDI:
                                      NC_000022.11:29025949:C:G,NC_000022.11:29025949:C:T
                                      Gene:
                                      ZNRF3 (Varview), ZNRF3-AS1 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      G=0.00004/1 (TOMMO)
                                      HGVS:
                                      19.

                                      rs1463913367 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        ->A [Show Flanks]
                                        Chromosome:
                                        22:29026682 (GRCh38)
                                        22:29422671 (GRCh37)
                                        Canonical SPDI:
                                        NC_000022.11:29026682:AAAA:AAAAA
                                        Gene:
                                        ZNRF3 (Varview), ZNRF3-AS1 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        AAAAA=0./0 (ALFA)
                                        A=0.00003/8 (TOPMED)
                                        A=0.000035/1 (TOMMO)
                                        A=0.000043/6 (GnomAD)
                                        A=0.000156/1 (1000Genomes)
                                        HGVS:
                                        20.

                                        rs1463678104 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          22:29025782 (GRCh38)
                                          22:29421770 (GRCh37)
                                          Canonical SPDI:
                                          NC_000022.11:29025781:A:G
                                          Gene:
                                          ZNRF3 (Varview), ZNRF3-AS1 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000004/1 (TOPMED)
                                          HGVS:

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