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Links from Nucleotide

Items: 1 to 20 of 82

1.

rs1491547825 [Homo sapiens]
    Variant type:
    INS
    Alleles:
    ->T [Show Flanks]
    Chromosome:
    X:123961300 (GRCh38)
    X:123095151 (GRCh37)
    Canonical SPDI:
    NC_000023.11:123961300::T
    Gene:
    STAG2 (Varview), STAG2-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:
    T=0./0 (ALFA)
    T=0.000011/3 (TOPMED)
    T=0.00002/1 (GnomAD)
    HGVS:
    2.

    rs1491451651 has merged into rs760265846 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      CCC>-,C,CC,CCCC,CCCCC,CCCCCC [Show Flanks]
      Chromosome:
      X:123961309 (GRCh38)
      X:123095159 (GRCh37)
      Canonical SPDI:
      NC_000023.11:123961299:CCCCCCCCCCCC:CCCCCCCCC,NC_000023.11:123961299:CCCCCCCCCCCC:CCCCCCCCCC,NC_000023.11:123961299:CCCCCCCCCCCC:CCCCCCCCCCC,NC_000023.11:123961299:CCCCCCCCCCCC:CCCCCCCCCCCCC,NC_000023.11:123961299:CCCCCCCCCCCC:CCCCCCCCCCCCCC,NC_000023.11:123961299:CCCCCCCCCCCC:CCCCCCCCCCCCCCC
      Gene:
      STAG2 (Varview), STAG2-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:
      CCCCCCCCCCCCCCC=0./0 (ALFA)
      -=0.37881/1430 (1000Genomes)
      HGVS:
      3.

      rs1491366938 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        AC>- [Show Flanks]
        Chromosome:
        X:123961299 (GRCh38)
        X:123095149 (GRCh37)
        Canonical SPDI:
        NC_000023.11:123961298:AC:
        Gene:
        STAG2 (Varview), STAG2-AS1 (Varview)
        Functional Consequence:
        intron_variant,upstream_transcript_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        -=0./0 (ALFA)
        HGVS:
        4.

        rs1491291627 has merged into rs760265846 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          CCC>-,C,CC,CCCC,CCCCC,CCCCCC [Show Flanks]
          Chromosome:
          X:123961309 (GRCh38)
          X:123095159 (GRCh37)
          Canonical SPDI:
          NC_000023.11:123961299:CCCCCCCCCCCC:CCCCCCCCC,NC_000023.11:123961299:CCCCCCCCCCCC:CCCCCCCCCC,NC_000023.11:123961299:CCCCCCCCCCCC:CCCCCCCCCCC,NC_000023.11:123961299:CCCCCCCCCCCC:CCCCCCCCCCCCC,NC_000023.11:123961299:CCCCCCCCCCCC:CCCCCCCCCCCCCC,NC_000023.11:123961299:CCCCCCCCCCCC:CCCCCCCCCCCCCCC
          Gene:
          STAG2 (Varview), STAG2-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:
          CCCCCCCCCCCCCCC=0./0 (ALFA)
          -=0.37881/1430 (1000Genomes)
          HGVS:
          5.

          rs1471238865 [Homo sapiens]
            Variant type:
            INS
            Alleles:
            ->G [Show Flanks]
            Chromosome:
            X:123961309 (GRCh38)
            X:123095160 (GRCh37)
            Canonical SPDI:
            NC_000023.11:123961309::G
            Gene:
            STAG2 (Varview), STAG2-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:
            G=0./0 (ALFA)
            G=0.000004/1 (TOPMED)
            G=0.00001/1 (GnomAD)
            HGVS:
            6.

            rs1468916822 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              X:123959296 (GRCh38)
              X:123093146 (GRCh37)
              Canonical SPDI:
              NC_000023.11:123959295:T:C
              Gene:
              STAG2 (Varview), STAG2-AS1 (Varview)
              Functional Consequence:
              non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              C=0.000008/2 (TOPMED)
              C=0.000019/2 (GnomAD)
              HGVS:
              7.

              rs1463831040 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                X:123959330 (GRCh38)
                X:123093180 (GRCh37)
                Canonical SPDI:
                NC_000023.11:123959329:G:A
                Gene:
                STAG2 (Varview), STAG2-AS1 (Varview)
                Functional Consequence:
                non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0./0 (ALFA)
                A=0.000019/2 (GnomAD)
                A=0.000026/7 (TOPMED)
                HGVS:
                8.

                rs1456552811 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>G [Show Flanks]
                  Chromosome:
                  X:123961242 (GRCh38)
                  X:123095092 (GRCh37)
                  Canonical SPDI:
                  NC_000023.11:123961241:C:G
                  Gene:
                  STAG2 (Varview), STAG2-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)
                  G=0.000019/5 (TOPMED)
                  G=0.00002/2 (GnomAD)
                  HGVS:
                  9.

                  rs1446609066 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    X:123959389 (GRCh38)
                    X:123093239 (GRCh37)
                    Canonical SPDI:
                    NC_000023.11:123959388:G:A
                    Gene:
                    STAG2 (Varview), STAG2-AS1 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_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.

                    rs1442451658 [Homo sapiens]
                      Variant type:
                      DEL
                      Alleles:
                      A>- [Show Flanks]
                      Chromosome:
                      X:123961299 (GRCh38)
                      X:123095149 (GRCh37)
                      Canonical SPDI:
                      NC_000023.11:123961298:A:
                      Gene:
                      STAG2 (Varview), STAG2-AS1 (Varview)
                      Functional Consequence:
                      intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,upstream_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      -=0./0 (ALFA)
                      HGVS:
                      11.

                      rs1434787717 [Homo sapiens]
                        Variant type:
                        DEL
                        Alleles:
                        C>- [Show Flanks]
                        Chromosome:
                        X:123961242 (GRCh38)
                        X:123095092 (GRCh37)
                        Canonical SPDI:
                        NC_000023.11:123961241:C:
                        Gene:
                        STAG2 (Varview), STAG2-AS1 (Varview)
                        Functional Consequence:
                        intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,upstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        -=0./0 (ALFA)
                        -=0.00002/2 (GnomAD)
                        -=0.000053/14 (TOPMED)
                        HGVS:
                        12.

                        rs1432766559 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          X:123961236 (GRCh38)
                          X:123095086 (GRCh37)
                          Canonical SPDI:
                          NC_000023.11:123961235:T:C
                          Gene:
                          STAG2 (Varview), STAG2-AS1 (Varview)
                          Functional Consequence:
                          intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,upstream_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          C=0./0 (ALFA)
                          T=0./0 (SGDP_PRJ)
                          HGVS:
                          13.

                          rs1418764549 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>C [Show Flanks]
                            Chromosome:
                            X:123959286 (GRCh38)
                            X:123093136 (GRCh37)
                            Canonical SPDI:
                            NC_000023.11:123959285:G:C
                            Gene:
                            STAG2 (Varview), STAG2-AS1 (Varview)
                            Functional Consequence:
                            2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            C=0.00014/2 (ALFA)
                            HGVS:
                            14.

                            rs1403502877 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              ->CTGCAATA [Show Flanks]
                              Chromosome:
                              X:123959288 (GRCh38)
                              X:123093139 (GRCh37)
                              Canonical SPDI:
                              NC_000023.11:123959288:ACTGCAATA:ACTGCAATACTGCAATA
                              Gene:
                              STAG2 (Varview), STAG2-AS1 (Varview)
                              Functional Consequence:
                              upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              ACTGCAATACTGCAATA=0./0 (ALFA)
                              ACTGCAAT=0.000058/6 (GnomAD)
                              ACTGCAAT=0.000083/22 (TOPMED)
                              HGVS:
                              15.

                              rs1401502240 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                X:123961198 (GRCh38)
                                X:123095048 (GRCh37)
                                Canonical SPDI:
                                NC_000023.11:123961197:C:T
                                Gene:
                                STAG2 (Varview), STAG2-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:
                                T=0./0 (ALFA)
                                T=0.00001/1 (GnomAD)
                                T=0.00021/1 (1000Genomes)
                                HGVS:
                                16.

                                rs1401425367 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  X:123961211 (GRCh38)
                                  X:123095061 (GRCh37)
                                  Canonical SPDI:
                                  NC_000023.11:123961210:C:T
                                  Gene:
                                  STAG2 (Varview), STAG2-AS1 (Varview)
                                  Functional Consequence:
                                  intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  T=0.0004/2 (ALFA)
                                  HGVS:
                                  17.

                                  rs1399284385 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>C,T [Show Flanks]
                                    Chromosome:
                                    X:123961299 (GRCh38)
                                    X:123095149 (GRCh37)
                                    Canonical SPDI:
                                    NC_000023.11:123961298:A:C,NC_000023.11:123961298:A:T
                                    Gene:
                                    STAG2 (Varview), STAG2-AS1 (Varview)
                                    Functional Consequence:
                                    intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    T=0./0 (ALFA)
                                    C=0.03512/101 (KOREAN)
                                    HGVS:
                                    18.

                                    rs1398584595 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      X:123961322 (GRCh38)
                                      X:123095172 (GRCh37)
                                      Canonical SPDI:
                                      NC_000023.11:123961321:C:T
                                      Gene:
                                      STAG2 (Varview), STAG2-AS1 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,intron_variant,upstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      T=0.000071/1 (ALFA)
                                      T=0.00001/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1378589423 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        X:123959367 (GRCh38)
                                        X:123093217 (GRCh37)
                                        Canonical SPDI:
                                        NC_000023.11:123959366:C:T
                                        Gene:
                                        STAG2 (Varview), STAG2-AS1 (Varview)
                                        Functional Consequence:
                                        upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000004/1 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1375077119 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>G [Show Flanks]
                                          Chromosome:
                                          X:123961209 (GRCh38)
                                          X:123095059 (GRCh37)
                                          Canonical SPDI:
                                          NC_000023.11:123961208:T:G
                                          Gene:
                                          STAG2 (Varview), STAG2-AS1 (Varview)
                                          Functional Consequence:
                                          genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant,upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.00001/1 (GnomAD)
                                          HGVS:

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