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Links from Nucleotide

Items: 1 to 20 of 126

1.

rs1486419702 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    11:83193618 (GRCh38)
    11:82904660 (GRCh37)
    Canonical SPDI:
    NC_000011.10:83193617:C:T
    Gene:
    ANKRD42 (Varview), ANKRD42-DT (Varview)
    Functional Consequence:
    non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
    Validated:
    by frequency,by alfa
    MAF:
    T=0./0 (ALFA)
    HGVS:
    2.

    rs1477421355 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      11:83191124 (GRCh38)
      11:82902166 (GRCh37)
      Canonical SPDI:
      NC_000011.10:83191123:A:G
      Gene:
      ANKRD42-DT (Varview)
      Functional Consequence:
      non_coding_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0./0 (ALFA)
      G=0./0 (GnomAD)
      G=0.000004/1 (TOPMED)
      HGVS:
      3.

      rs1474205011 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A,T [Show Flanks]
        Chromosome:
        11:83191070 (GRCh38)
        11:82902112 (GRCh37)
        Canonical SPDI:
        NC_000011.10:83191069:G:A,NC_000011.10:83191069:G:T
        Gene:
        ANKRD42-DT (Varview)
        Functional Consequence:
        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)
        A=0.000156/1 (1000Genomes)
        HGVS:
        4.

        rs1472597690 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          ->T [Show Flanks]
          Chromosome:
          11:83192776 (GRCh38)
          11:82903819 (GRCh37)
          Canonical SPDI:
          NC_000011.10:83192776:T:TT
          Gene:
          ANKRD42 (Varview), ANKRD42-DT (Varview)
          Functional Consequence:
          intron_variant,upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          TT=0.000071/1 (ALFA)
          T=0.000007/1 (GnomAD)
          T=0.000019/5 (TOPMED)
          HGVS:
          5.

          rs1460573413 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>T [Show Flanks]
            Chromosome:
            11:83193482 (GRCh38)
            11:82904524 (GRCh37)
            Canonical SPDI:
            NC_000011.10:83193481:G:T
            Gene:
            ANKRD42 (Varview), ANKRD42-DT (Varview)
            Functional Consequence:
            2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            T=0./0 (ALFA)
            T=0.000004/1 (TOPMED)
            HGVS:
            6.

            rs1459019371 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              11:83193555 (GRCh38)
              11:82904597 (GRCh37)
              Canonical SPDI:
              NC_000011.10:83193554:T:C
              Gene:
              ANKRD42 (Varview), ANKRD42-DT (Varview)
              Functional Consequence:
              2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              C=0.000008/2 (TOPMED)
              C=0.000021/3 (GnomAD)
              C=0.000035/1 (TOMMO)
              C=0.000342/1 (KOREAN)
              HGVS:
              7.

              rs1455757376 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                ->TT [Show Flanks]
                Chromosome:
                11:83193487 (GRCh38)
                11:82904530 (GRCh37)
                Canonical SPDI:
                NC_000011.10:83193487:TT:TTTT
                Gene:
                ANKRD42 (Varview), ANKRD42-DT (Varview)
                Functional Consequence:
                2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                TTTT=0./0 (ALFA)
                TT=0.000011/3 (TOPMED)
                HGVS:
                8.

                rs1453675186 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  11:83193502 (GRCh38)
                  11:82904544 (GRCh37)
                  Canonical SPDI:
                  NC_000011.10:83193501:C:T
                  Gene:
                  ANKRD42 (Varview), ANKRD42-DT (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000008/2 (TOPMED)
                  T=0.000014/2 (GnomAD)
                  HGVS:
                  9.

                  rs1447223338 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    11:83193648 (GRCh38)
                    11:82904690 (GRCh37)
                    Canonical SPDI:
                    NC_000011.10:83193647:A:G
                    Gene:
                    ANKRD42 (Varview), ANKRD42-DT (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000004/1 (TOPMED)
                    G=0.000007/1 (GnomAD)
                    HGVS:
                    10.

                    rs1440724441 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      11:83193477 (GRCh38)
                      11:82904519 (GRCh37)
                      Canonical SPDI:
                      NC_000011.10:83193476:G:A
                      Gene:
                      ANKRD42 (Varview), ANKRD42-DT (Varview)
                      Functional Consequence:
                      2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000004/1 (TOPMED)
                      HGVS:
                      11.

                      rs1436777196 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>C [Show Flanks]
                        Chromosome:
                        11:83193587 (GRCh38)
                        11:82904629 (GRCh37)
                        Canonical SPDI:
                        NC_000011.10:83193586:A:C
                        Gene:
                        ANKRD42 (Varview), ANKRD42-DT (Varview)
                        Functional Consequence:
                        2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000023/6 (TOPMED)
                        HGVS:
                        12.

                        rs1433917711 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          11:83193591 (GRCh38)
                          11:82904633 (GRCh37)
                          Canonical SPDI:
                          NC_000011.10:83193590:A:G
                          Gene:
                          ANKRD42 (Varview), ANKRD42-DT (Varview)
                          Functional Consequence:
                          2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000004/1 (TOPMED)
                          HGVS:
                          13.

                          rs1425659738 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            11:83190993 (GRCh38)
                            11:82902035 (GRCh37)
                            Canonical SPDI:
                            NC_000011.10:83190992:T:C
                            Gene:
                            ANKRD42-DT (Varview)
                            Functional Consequence:
                            intron_variant,non_coding_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000011/3 (TOPMED)
                            HGVS:
                            14.

                            rs1415614595 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>G [Show Flanks]
                              Chromosome:
                              11:83192783 (GRCh38)
                              11:82903825 (GRCh37)
                              Canonical SPDI:
                              NC_000011.10:83192782:C:G
                              Gene:
                              ANKRD42 (Varview), ANKRD42-DT (Varview)
                              Functional Consequence:
                              2KB_upstream_variant,intron_variant,non_coding_transcript_variant,upstream_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000004/1 (TOPMED)
                              HGVS:
                              15.

                              rs1413512285 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>C [Show Flanks]
                                Chromosome:
                                11:83192750 (GRCh38)
                                11:82903792 (GRCh37)
                                Canonical SPDI:
                                NC_000011.10:83192749:G:C
                                Gene:
                                ANKRD42 (Varview), ANKRD42-DT (Varview)
                                Functional Consequence:
                                2KB_upstream_variant,intron_variant,non_coding_transcript_variant,upstream_transcript_variant
                                Validated:
                                by frequency
                                MAF:
                                C=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1413354799 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>A,T [Show Flanks]
                                  Chromosome:
                                  11:83190984 (GRCh38)
                                  11:82902026 (GRCh37)
                                  Canonical SPDI:
                                  NC_000011.10:83190983:C:A,NC_000011.10:83190983:C:T
                                  Gene:
                                  ANKRD42-DT (Varview)
                                  Functional Consequence:
                                  intron_variant,non_coding_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  HGVS:
                                  17.

                                  rs1410292853 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    11:83191098 (GRCh38)
                                    11:82902140 (GRCh37)
                                    Canonical SPDI:
                                    NC_000011.10:83191097:C:T
                                    Gene:
                                    ANKRD42-DT (Varview)
                                    Functional Consequence:
                                    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:
                                    18.

                                    rs1407463977 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      11:83192804 (GRCh38)
                                      11:82903846 (GRCh37)
                                      Canonical SPDI:
                                      NC_000011.10:83192803:G:A
                                      Gene:
                                      ANKRD42 (Varview), ANKRD42-DT (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0.000071/1 (ALFA)
                                      A=0.000043/6 (GnomAD)
                                      A=0.000057/15 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1406115818 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        11:83193533 (GRCh38)
                                        11:82904575 (GRCh37)
                                        Canonical SPDI:
                                        NC_000011.10:83193532:C:T
                                        Gene:
                                        ANKRD42 (Varview), ANKRD42-DT (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000029/4 (GnomAD)
                                        T=0.00003/8 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1402278277 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          11:83191104 (GRCh38)
                                          11:82902146 (GRCh37)
                                          Canonical SPDI:
                                          NC_000011.10:83191103:T:C
                                          Gene:
                                          ANKRD42-DT (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000008/2 (TOPMED)
                                          C=0.000014/2 (GnomAD)
                                          HGVS:

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