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Links from Nucleotide

Items: 1 to 20 of 58

1.

rs1490857632 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>A [Show Flanks]
    Chromosome:
    X:70453232 (GRCh38)
    X:69673082 (GRCh37)
    Canonical SPDI:
    NC_000023.11:70453231:T:A
    Gene:
    DLG3 (Varview), DLG3-AS1 (Varview)
    Functional Consequence:
    intron_variant,upstream_transcript_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0./0 (ALFA)
    A=0.000004/1 (TOPMED)
    A=0.00001/1 (GnomAD)
    HGVS:
    2.

    rs1488880572 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      X:70455964 (GRCh38)
      X:69675814 (GRCh37)
      Canonical SPDI:
      NC_000023.11:70455963:C:T
      Gene:
      DLG3 (Varview), DLG3-AS1 (Varview)
      Functional Consequence:
      intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,non_coding_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      T=0.000015/4 (TOPMED)
      T=0.000029/3 (GnomAD)
      T=0.001372/4 (KOREAN)
      T=0.002295/29 (TOMMO)
      HGVS:
      3.

      rs1486261059 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>A [Show Flanks]
        Chromosome:
        X:70453076 (GRCh38)
        X:69672926 (GRCh37)
        Canonical SPDI:
        NC_000023.11:70453075:C:A
        Gene:
        DLG3 (Varview), DLG3-AS1 (Varview)
        Functional Consequence:
        intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        A=0./0 (ALFA)
        A=0.000004/1 (TOPMED)
        HGVS:
        4.

        rs1473009360 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          X:70453239 (GRCh38)
          X:69673089 (GRCh37)
          Canonical SPDI:
          NC_000023.11:70453238:A:G
          Gene:
          DLG3 (Varview), DLG3-AS1 (Varview)
          Functional Consequence:
          genic_upstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant,intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          G=0./0 (ALFA)
          HGVS:
          5.

          rs1434353922 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>G [Show Flanks]
            Chromosome:
            X:70455950 (GRCh38)
            X:69675800 (GRCh37)
            Canonical SPDI:
            NC_000023.11:70455949:T:G
            Gene:
            DLG3 (Varview), DLG3-AS1 (Varview)
            Functional Consequence:
            genic_upstream_transcript_variant,5_prime_UTR_variant,non_coding_transcript_variant,intron_variant,upstream_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            G=0./0 (ALFA)
            G=0.000048/5 (GnomAD)
            HGVS:
            6.

            rs1403564797 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              X:70453065 (GRCh38)
              X:69672915 (GRCh37)
              Canonical SPDI:
              NC_000023.11:70453064:C:T
              Gene:
              DLG3 (Varview), DLG3-AS1 (Varview)
              Functional Consequence:
              intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              T=0./0 (ALFA)
              T=0.000015/4 (TOPMED)
              HGVS:
              7.

              rs1402628354 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                X:70453291 (GRCh38)
                X:69673141 (GRCh37)
                Canonical SPDI:
                NC_000023.11:70453290:G:A
                Gene:
                DLG3 (Varview), DLG3-AS1 (Varview)
                Functional Consequence:
                intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0./0 (ALFA)
                A=0.000008/2 (TOPMED)
                A=0.00001/1 (GnomAD)
                HGVS:
                8.

                rs1386942197 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  X:70453066 (GRCh38)
                  X:69672916 (GRCh37)
                  Canonical SPDI:
                  NC_000023.11:70453065:G:A
                  Gene:
                  DLG3 (Varview), DLG3-AS1 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000008/2 (TOPMED)
                  HGVS:
                  9.

                  rs1371104308 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    X:70453173 (GRCh38)
                    X:69673023 (GRCh37)
                    Canonical SPDI:
                    NC_000023.11:70453172:G:A
                    Gene:
                    DLG3 (Varview), DLG3-AS1 (Varview)
                    Functional Consequence:
                    genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000004/1 (TOPMED)
                    A=0.00001/1 (GnomAD)
                    HGVS:
                    10.

                    rs1367433296 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A,T [Show Flanks]
                      Chromosome:
                      X:70453137 (GRCh38)
                      X:69672987 (GRCh37)
                      Canonical SPDI:
                      NC_000023.11:70453136:G:A,NC_000023.11:70453136:G:T
                      Gene:
                      DLG3 (Varview), DLG3-AS1 (Varview)
                      Functional Consequence:
                      genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000008/2 (TOPMED)
                      A=0.000045/1 (TOMMO)
                      HGVS:
                      11.

                      rs1362232296 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        X:70453095 (GRCh38)
                        X:69672945 (GRCh37)
                        Canonical SPDI:
                        NC_000023.11:70453094:A:G
                        Gene:
                        DLG3 (Varview), DLG3-AS1 (Varview)
                        Functional Consequence:
                        genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000008/2 (TOPMED)
                        HGVS:
                        12.

                        rs1362171902 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>T [Show Flanks]
                          Chromosome:
                          X:70453121 (GRCh38)
                          X:69672971 (GRCh37)
                          Canonical SPDI:
                          NC_000023.11:70453120:G:T
                          Gene:
                          DLG3 (Varview), DLG3-AS1 (Varview)
                          Functional Consequence:
                          genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000011/3 (TOPMED)
                          HGVS:
                          13.

                          rs1346809534 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>C [Show Flanks]
                            Chromosome:
                            X:70453292 (GRCh38)
                            X:69673142 (GRCh37)
                            Canonical SPDI:
                            NC_000023.11:70453291:G:C
                            Gene:
                            DLG3 (Varview), DLG3-AS1 (Varview)
                            Functional Consequence:
                            upstream_transcript_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000015/4 (TOPMED)
                            HGVS:
                            14.

                            rs1293069217 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              X:70453111 (GRCh38)
                              X:69672961 (GRCh37)
                              Canonical SPDI:
                              NC_000023.11:70453110:T:C
                              Gene:
                              DLG3 (Varview), DLG3-AS1 (Varview)
                              Functional Consequence:
                              genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000011/3 (TOPMED)
                              HGVS:
                              15.

                              rs1293046763 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A,C [Show Flanks]
                                Chromosome:
                                X:70453119 (GRCh38)
                                X:69672969 (GRCh37)
                                Canonical SPDI:
                                NC_000023.11:70453118:G:A,NC_000023.11:70453118:G:C
                                Gene:
                                DLG3 (Varview), DLG3-AS1 (Varview)
                                Functional Consequence:
                                genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                HGVS:
                                16.

                                rs1291507934 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>G [Show Flanks]
                                  Chromosome:
                                  X:70455969 (GRCh38)
                                  X:69675819 (GRCh37)
                                  Canonical SPDI:
                                  NC_000023.11:70455968:C:G
                                  Gene:
                                  DLG3 (Varview), DLG3-AS1 (Varview)
                                  Functional Consequence:
                                  5_prime_UTR_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000011/3 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1286743918 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>C [Show Flanks]
                                    Chromosome:
                                    X:70453012 (GRCh38)
                                    X:69672862 (GRCh37)
                                    Canonical SPDI:
                                    NC_000023.11:70453011:A:C
                                    Gene:
                                    DLG3 (Varview), DLG3-AS1 (Varview)
                                    Functional Consequence:
                                    genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    C=0.000071/1 (ALFA)
                                    C=0.000004/1 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1270322182 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      X:70453245 (GRCh38)
                                      X:69673095 (GRCh37)
                                      Canonical SPDI:
                                      NC_000023.11:70453244:C:T
                                      Gene:
                                      DLG3 (Varview), DLG3-AS1 (Varview)
                                      Functional Consequence:
                                      genic_upstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000008/2 (TOPMED)
                                      T=0.000039/4 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1253480520 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        X:70453275 (GRCh38)
                                        X:69673125 (GRCh37)
                                        Canonical SPDI:
                                        NC_000023.11:70453274:G:A
                                        Gene:
                                        DLG3 (Varview), DLG3-AS1 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000004/1 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1244168719 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>A [Show Flanks]
                                          Chromosome:
                                          X:70455978 (GRCh38)
                                          X:69675828 (GRCh37)
                                          Canonical SPDI:
                                          NC_000023.11:70455977:C:A
                                          Gene:
                                          DLG3 (Varview), DLG3-AS1 (Varview)
                                          Functional Consequence:
                                          genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,intron_variant,non_coding_transcript_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000023/6 (TOPMED)
                                          HGVS:

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