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Links from Nucleotide

Items: 1 to 20 of 480

1.

rs1489440982 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    11:18211407 (GRCh38)
    11:18232954 (GRCh37)
    Canonical SPDI:
    NC_000011.10:18211406:C:T
    Gene:
    SLC25A51P4 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    T=0.000008/2 (TOPMED)
    T=0.000014/2 (GnomAD)
    HGVS:
    2.

    rs1488800196 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      11:18209889 (GRCh38)
      11:18231436 (GRCh37)
      Canonical SPDI:
      NC_000011.10:18209888:G:A
      Gene:
      SLC25A51P4 (Varview)
      Functional Consequence:
      non_coding_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0./0 (ALFA)
      A=0.000004/1 (TOPMED)
      A=0.000007/1 (GnomAD)
      HGVS:
      3.

      rs1487792233 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A,T [Show Flanks]
        Chromosome:
        11:18210766 (GRCh38)
        11:18232313 (GRCh37)
        Canonical SPDI:
        NC_000011.10:18210765:G:A,NC_000011.10:18210765:G:T
        Gene:
        SLC25A51P4 (Varview)
        Functional Consequence:
        non_coding_transcript_variant,intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        HGVS:
        4.

        rs1486444525 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          11:18209913 (GRCh38)
          11:18231460 (GRCh37)
          Canonical SPDI:
          NC_000011.10:18209912:G:A
          Gene:
          SLC25A51P4 (Varview)
          Functional Consequence:
          non_coding_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.000011/3 (TOPMED)
          A=0.000021/3 (GnomAD)
          HGVS:
          5.

          rs1486154206 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>A [Show Flanks]
            Chromosome:
            11:18210287 (GRCh38)
            11:18231834 (GRCh37)
            Canonical SPDI:
            NC_000011.10:18210286:C:A
            Gene:
            SLC25A51P4 (Varview)
            Functional Consequence:
            non_coding_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            A=0./0 (ALFA)
            A=0.000023/6 (TOPMED)
            HGVS:
            6.

            rs1483012837 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              11:18209788 (GRCh38)
              11:18231335 (GRCh37)
              Canonical SPDI:
              NC_000011.10:18209787:C:T
              Gene:
              SLC25A51P4 (Varview)
              Functional Consequence:
              non_coding_transcript_variant
              Validated:
              by frequency
              MAF:
              T=0.000004/1 (GnomAD_exomes)
              HGVS:
              7.

              rs1482934900 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                11:18210389 (GRCh38)
                11:18231936 (GRCh37)
                Canonical SPDI:
                NC_000011.10:18210388:C:T
                Gene:
                SLC25A51P4 (Varview)
                Functional Consequence:
                non_coding_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                T=0./0 (ALFA)
                T=0.000004/1 (TOPMED)
                HGVS:
                8.

                rs1482028400 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>T [Show Flanks]
                  Chromosome:
                  11:18210170 (GRCh38)
                  11:18231717 (GRCh37)
                  Canonical SPDI:
                  NC_000011.10:18210169:A:T
                  Gene:
                  SLC25A51P4 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000004/1 (GnomAD_exomes)
                  T=0.000008/2 (TOPMED)
                  HGVS:
                  9.

                  rs1481600959 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>A,C [Show Flanks]
                    Chromosome:
                    11:18210919 (GRCh38)
                    11:18232466 (GRCh37)
                    Canonical SPDI:
                    NC_000011.10:18210918:T:A,NC_000011.10:18210918:T:C
                    Gene:
                    SLC25A51P4 (Varview)
                    Functional Consequence:
                    intron_variant,non_coding_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000004/1 (TOPMED)
                    C=0.000014/2 (GnomAD)
                    HGVS:
                    10.

                    rs1478522012 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>A [Show Flanks]
                      Chromosome:
                      11:18210844 (GRCh38)
                      11:18232391 (GRCh37)
                      Canonical SPDI:
                      NC_000011.10:18210843:C:A
                      Gene:
                      SLC25A51P4 (Varview)
                      Functional Consequence:
                      intron_variant,non_coding_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0.000071/1 (ALFA)
                      A=0.000007/1 (GnomAD)
                      A=0.000011/3 (TOPMED)
                      HGVS:
                      11.

                      rs1474001611 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G,T [Show Flanks]
                        Chromosome:
                        11:18209862 (GRCh38)
                        11:18231409 (GRCh37)
                        Canonical SPDI:
                        NC_000011.10:18209861:A:G,NC_000011.10:18209861:A:T
                        Gene:
                        SLC25A51P4 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        G=0.000007/1 (GnomAD)
                        HGVS:
                        12.

                        rs1472606735 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          11:18209950 (GRCh38)
                          11:18231497 (GRCh37)
                          Canonical SPDI:
                          NC_000011.10:18209949:C:T
                          Gene:
                          SLC25A51P4 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          T=0./0 (ALFA)
                          HGVS:
                          13.

                          rs1472333295 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            11:18209732 (GRCh38)
                            11:18231279 (GRCh37)
                            Canonical SPDI:
                            NC_000011.10:18209731:C:T
                            Gene:
                            SLC25A51P4 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000008/2 (GnomAD_exomes)
                            T=0.000008/2 (TOPMED)
                            HGVS:
                            14.

                            rs1471349466 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              11:18210084 (GRCh38)
                              11:18231631 (GRCh37)
                              Canonical SPDI:
                              NC_000011.10:18210083:G:A
                              Gene:
                              SLC25A51P4 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant
                              Validated:
                              by frequency
                              MAF:
                              A=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              15.

                              rs1468707298 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>G [Show Flanks]
                                Chromosome:
                                11:18211020 (GRCh38)
                                11:18232567 (GRCh37)
                                Canonical SPDI:
                                NC_000011.10:18211019:T:G
                                Gene:
                                SLC25A51P4 (Varview)
                                Functional Consequence:
                                intron_variant,non_coding_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000004/1 (TOPMED)
                                G=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1467822856 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>A [Show Flanks]
                                  Chromosome:
                                  11:18209991 (GRCh38)
                                  11:18231538 (GRCh37)
                                  Canonical SPDI:
                                  NC_000011.10:18209990:T:A
                                  Gene:
                                  SLC25A51P4 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  A=0./0 (ALFA)
                                  HGVS:
                                  17.

                                  rs1467423890 [Homo sapiens]
                                    Variant type:
                                    DEL
                                    Alleles:
                                    T>- [Show Flanks]
                                    Chromosome:
                                    11:18210893 (GRCh38)
                                    11:18232440 (GRCh37)
                                    Canonical SPDI:
                                    NC_000011.10:18210892:T:
                                    Gene:
                                    SLC25A51P4 (Varview)
                                    Functional Consequence:
                                    intron_variant,non_coding_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    -=0./0 (ALFA)
                                    -=0.000036/5 (GnomAD)
                                    -=0.000042/11 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1466858708 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      11:18209705 (GRCh38)
                                      11:18231252 (GRCh37)
                                      Canonical SPDI:
                                      NC_000011.10:18209704:G:A
                                      Gene:
                                      SLC25A51P4 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      A=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      19.

                                      rs1465390836 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        11:18210993 (GRCh38)
                                        11:18232540 (GRCh37)
                                        Canonical SPDI:
                                        NC_000011.10:18210992:C:T
                                        Gene:
                                        SLC25A51P4 (Varview)
                                        Functional Consequence:
                                        intron_variant,non_coding_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0.000071/1 (ALFA)
                                        T=0./0 (GnomAD)
                                        T=0.000004/1 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1463806885 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          11:18211497 (GRCh38)
                                          11:18233044 (GRCh37)
                                          Canonical SPDI:
                                          NC_000011.10:18211496:A:G
                                          Gene:
                                          SLC25A51P4 (Varview)
                                          Functional Consequence:
                                          intron_variant,non_coding_transcript_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000004/1 (TOPMED)
                                          HGVS:

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