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Links from Nucleotide

Items: 1 to 20 of 25

1.

rs1466797582 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    X:119787456 (GRCh38)
    X:118921419 (GRCh37)
    Canonical SPDI:
    NC_000023.11:119787455:A:G
    Gene:
    RPL39 (Varview), SNORA69 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,intron_variant
    Validated:
    by frequency
    MAF:
    G=0.000006/1 (GnomAD_exomes)
    HGVS:
    2.

    rs1438962602 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      X:119787409 (GRCh38)
      X:118921372 (GRCh37)
      Canonical SPDI:
      NC_000023.11:119787408:A:G
      Gene:
      RPL39 (Varview), SNORA69 (Varview)
      Functional Consequence:
      intron_variant,non_coding_transcript_variant
      Validated:
      by frequency
      MAF:
      G=0.000006/1 (GnomAD_exomes)
      HGVS:
      3.

      rs1412663326 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        X:119787467 (GRCh38)
        X:118921430 (GRCh37)
        Canonical SPDI:
        NC_000023.11:119787466:G:A
        Gene:
        RPL39 (Varview), SNORA69 (Varview)
        Functional Consequence:
        intron_variant,non_coding_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        A=0.000071/1 (ALFA)
        A=0.000004/1 (TOPMED)
        HGVS:
        4.

        rs1408690992 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          X:119787390 (GRCh38)
          X:118921353 (GRCh37)
          Canonical SPDI:
          NC_000023.11:119787389:A:G
          Gene:
          RPL39 (Varview), SNORA69 (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=0.00001/1 (GnomAD)
          HGVS:
          5.

          rs1395626164 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            X:119787399 (GRCh38)
            X:118921362 (GRCh37)
            Canonical SPDI:
            NC_000023.11:119787398:A:G
            Gene:
            RPL39 (Varview), SNORA69 (Varview)
            Functional Consequence:
            intron_variant,non_coding_transcript_variant
            Validated:
            by frequency
            MAF:
            G=0.000006/1 (GnomAD_exomes)
            HGVS:
            6.

            rs1395444278 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>C [Show Flanks]
              Chromosome:
              X:119787366 (GRCh38)
              X:118921329 (GRCh37)
              Canonical SPDI:
              NC_000023.11:119787365:A:C
              Gene:
              RPL39 (Varview), SNORA69 (Varview)
              Functional Consequence:
              intron_variant,non_coding_transcript_variant
              Validated:
              by frequency
              MAF:
              C=0.000006/1 (GnomAD_exomes)
              HGVS:
              7.

              rs1353496134 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                X:119787458 (GRCh38)
                X:118921421 (GRCh37)
                Canonical SPDI:
                NC_000023.11:119787457:T:C
                Gene:
                RPL39 (Varview), SNORA69 (Varview)
                Functional Consequence:
                non_coding_transcript_variant,intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0./0 (ALFA)
                C=0.000023/6 (TOPMED)
                C=0.000029/3 (GnomAD)
                HGVS:
                8.

                rs1352887627 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  X:119787365 (GRCh38)
                  X:118921328 (GRCh37)
                  Canonical SPDI:
                  NC_000023.11:119787364:C:T
                  Gene:
                  RPL39 (Varview), SNORA69 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0.000071/1 (ALFA)
                  T=0.000008/2 (TOPMED)
                  T=0.00001/1 (GnomAD)
                  HGVS:
                  9.

                  rs1349011731 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    X:119787416 (GRCh38)
                    X:118921379 (GRCh37)
                    Canonical SPDI:
                    NC_000023.11:119787415:C:T
                    Gene:
                    RPL39 (Varview), SNORA69 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.00001/1 (GnomAD)
                    T=0.000012/2 (GnomAD_exomes)
                    T=0.001027/3 (KOREAN)
                    HGVS:
                    10.

                    rs1308069162 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>A [Show Flanks]
                      Chromosome:
                      X:119787383 (GRCh38)
                      X:118921346 (GRCh37)
                      Canonical SPDI:
                      NC_000023.11:119787382:C:A
                      Gene:
                      RPL39 (Varview), SNORA69 (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=0.00001/1 (GnomAD)
                      HGVS:
                      11.

                      rs1303016894 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        X:119787410 (GRCh38)
                        X:118921373 (GRCh37)
                        Canonical SPDI:
                        NC_000023.11:119787409:T:C
                        Gene:
                        RPL39 (Varview), SNORA69 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000006/1 (GnomAD_exomes)
                        C=0.000023/6 (TOPMED)
                        HGVS:
                        12.

                        rs1252047777 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          X:119787445 (GRCh38)
                          X:118921408 (GRCh37)
                          Canonical SPDI:
                          NC_000023.11:119787444:T:C
                          Gene:
                          RPL39 (Varview), SNORA69 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,intron_variant
                          Validated:
                          by frequency
                          MAF:
                          C=0.000006/1 (GnomAD_exomes)
                          HGVS:
                          13.

                          rs1236906079 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            X:119787417 (GRCh38)
                            X:118921380 (GRCh37)
                            Canonical SPDI:
                            NC_000023.11:119787416:G:A
                            Gene:
                            RPL39 (Varview), SNORA69 (Varview)
                            Functional Consequence:
                            intron_variant,non_coding_transcript_variant
                            Validated:
                            by frequency,by cluster
                            MAF:
                            A=0.000012/2 (GnomAD_exomes)
                            HGVS:
                            14.

                            rs1017630631 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              X:119787402 (GRCh38)
                              X:118921365 (GRCh37)
                              Canonical SPDI:
                              NC_000023.11:119787401:A:G
                              Gene:
                              RPL39 (Varview), SNORA69 (Varview)
                              Functional Consequence:
                              intron_variant,non_coding_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000008/2 (TOPMED)
                              HGVS:
                              15.

                              rs779012496 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>C [Show Flanks]
                                Chromosome:
                                X:119787443 (GRCh38)
                                X:118921406 (GRCh37)
                                Canonical SPDI:
                                NC_000023.11:119787442:A:C
                                Gene:
                                RPL39 (Varview), SNORA69 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000008/2 (TOPMED)
                                C=0.00001/1 (GnomAD)
                                C=0.000018/3 (GnomAD_exomes)
                                C=0.000025/2 (ExAC)
                                HGVS:
                                16.

                                rs776069086 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  X:119787372 (GRCh38)
                                  X:118921335 (GRCh37)
                                  Canonical SPDI:
                                  NC_000023.11:119787371:T:C
                                  Gene:
                                  RPL39 (Varview), SNORA69 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,intron_variant
                                  Validated:
                                  by frequency,by cluster
                                  MAF:
                                  C=0./0 (ALSPAC)
                                  C=0.0003/1 (TWINSUK)
                                  HGVS:
                                  17.

                                  rs772850765 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    GAT>- [Show Flanks]
                                    Chromosome:
                                    X:119787376 (GRCh38)
                                    X:118921339 (GRCh37)
                                    Canonical SPDI:
                                    NC_000023.11:119787373:ATGAT:AT
                                    Gene:
                                    RPL39 (Varview), SNORA69 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,intron_variant
                                    Validated:
                                    by frequency,by cluster
                                    MAF:
                                    -=0.000012/2 (GnomAD_exomes)
                                    -=0.000013/1 (ExAC)
                                    HGVS:
                                    18.

                                    rs766599847 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>A [Show Flanks]
                                      Chromosome:
                                      X:119787401 (GRCh38)
                                      X:118921364 (GRCh37)
                                      Canonical SPDI:
                                      NC_000023.11:119787400:C:A
                                      Gene:
                                      RPL39 (Varview), SNORA69 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0.000144/3 (ALFA)
                                      A=0.000019/2 (GnomAD)
                                      A=0.000019/5 (TOPMED)
                                      A=0.00003/5 (GnomAD_exomes)
                                      A=0.000037/3 (ExAC)
                                      HGVS:
                                      19.

                                      rs760566186 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        CAG>- [Show Flanks]
                                        Chromosome:
                                        X:119787431 (GRCh38)
                                        X:118921394 (GRCh37)
                                        Canonical SPDI:
                                        NC_000023.11:119787427:CAGCAG:CAG
                                        Gene:
                                        RPL39 (Varview), SNORA69 (Varview)
                                        Functional Consequence:
                                        intron_variant,non_coding_transcript_variant
                                        Validated:
                                        by frequency,by cluster
                                        MAF:
                                        -=0.000006/1 (GnomAD_exomes)
                                        -=0.000012/1 (ExAC)
                                        HGVS:
                                        20.

                                        rs756512389 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          X:119787400 (GRCh38)
                                          X:118921363 (GRCh37)
                                          Canonical SPDI:
                                          NC_000023.11:119787399:T:C
                                          Gene:
                                          RPL39 (Varview), SNORA69 (Varview)
                                          Functional Consequence:
                                          intron_variant,non_coding_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000006/1 (GnomAD_exomes)
                                          C=0.00001/1 (GnomAD)
                                          C=0.000012/1 (ExAC)
                                          HGVS:

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