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Links from Nucleotide

Items: 1 to 20 of 62

1.

rs1473128017 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>G [Show Flanks]
    Chromosome:
    X:135123522 (GRCh38)
    X:134257450 (GRCh37)
    Canonical SPDI:
    NC_000023.11:135123521:C:G
    Gene:
    SMIM10L2B-AS1 (Varview)
    Functional Consequence:
    non_coding_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0./0 (ALFA)
    G=0.000011/1 (GnomAD)
    G=0.000019/5 (TOPMED)
    HGVS:
    2.

    rs1471225128 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>A,T [Show Flanks]
      Chromosome:
      X:135123434 (GRCh38)
      X:134257362 (GRCh37)
      Canonical SPDI:
      NC_000023.11:135123433:C:A,NC_000023.11:135123433:C:T
      Gene:
      SMIM10L2B-AS1 (Varview)
      Functional Consequence:
      non_coding_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0.00008/1 (ALFA)
      C=0./0 (SGDP_PRJ)
      T=0.00087/11 (TOMMO)
      T=0.00352/10 (KOREAN)
      HGVS:
      3.

      rs1463409431 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        X:135123540 (GRCh38)
        X:134257468 (GRCh37)
        Canonical SPDI:
        NC_000023.11:135123539:G:A
        Gene:
        SMIM10L2B-AS1 (Varview)
        Functional Consequence:
        non_coding_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0./0 (ALFA)
        A=0.00001/1 (GnomAD)
        A=0.00006/5 (GnomAD_exomes)
        HGVS:
        4.

        rs1463367411 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          X:135123446 (GRCh38)
          X:134257374 (GRCh37)
          Canonical SPDI:
          NC_000023.11:135123445:G:A
          Gene:
          SMIM10L2B-AS1 (Varview)
          Functional Consequence:
          non_coding_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0.000108/2 (ALFA)
          A=0.000011/1 (GnomAD)
          A=0.000015/4 (TOPMED)
          A=0.000021/2 (GnomAD_exomes)
          HGVS:
          5.

          rs1455913104 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            X:135123399 (GRCh38)
            X:134257327 (GRCh37)
            Canonical SPDI:
            NC_000023.11:135123398:G:A
            Gene:
            SMIM10L2B-AS1 (Varview)
            Functional Consequence:
            non_coding_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0.000087/2 (ALFA)
            A=0.000062/6 (GnomAD)
            A=0.000083/22 (TOPMED)
            A=0.000113/11 (GnomAD_exomes)
            A=0.000697/2 (KOREAN)
            HGVS:
            6.

            rs1439625367 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              X:135123304 (GRCh38)
              X:134257232 (GRCh37)
              Canonical SPDI:
              NC_000023.11:135123303:A:G
              Gene:
              SMIM10L2B-AS1 (Varview)
              Functional Consequence:
              non_coding_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0.000142/2 (ALFA)
              G=0.00001/1 (GnomAD)
              G=0.000011/3 (TOPMED)
              HGVS:
              7.

              rs1435842273 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                X:135120657 (GRCh38)
                X:134254585 (GRCh37)
                Canonical SPDI:
                NC_000023.11:135120656:T:C
                Gene:
                ETDB (Varview), SMIM10L2B-AS1 (Varview)
                Functional Consequence:
                2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                C=0./0 (ALFA)
                HGVS:
                8.

                rs1412199002 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  X:135123512 (GRCh38)
                  X:134257440 (GRCh37)
                  Canonical SPDI:
                  NC_000023.11:135123511:C:T
                  Gene:
                  SMIM10L2B-AS1 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000008/2 (TOPMED)
                  T=0.000021/2 (GnomAD)
                  HGVS:
                  9.

                  rs1411957046 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    X:135123410 (GRCh38)
                    X:134257338 (GRCh37)
                    Canonical SPDI:
                    NC_000023.11:135123409:T:C
                    Gene:
                    SMIM10L2B-AS1 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    C=0./0 (ALFA)
                    HGVS:
                    10.

                    rs1409967622 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>T [Show Flanks]
                      Chromosome:
                      X:135123355 (GRCh38)
                      X:134257283 (GRCh37)
                      Canonical SPDI:
                      NC_000023.11:135123354:A:T
                      Gene:
                      SMIM10L2B-AS1 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000011/3 (TOPMED)
                      HGVS:
                      11.

                      rs1388328809 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        X:135123503 (GRCh38)
                        X:134257431 (GRCh37)
                        Canonical SPDI:
                        NC_000023.11:135123502:G:A
                        Gene:
                        SMIM10L2B-AS1 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        A=0.00001/1 (GnomAD_exomes)
                        A=0.00003/8 (TOPMED)
                        A=0.000043/4 (GnomAD)
                        HGVS:
                        12.

                        rs1387380904 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          X:135123532 (GRCh38)
                          X:134257460 (GRCh37)
                          Canonical SPDI:
                          NC_000023.11:135123531:C:T
                          Gene:
                          SMIM10L2B-AS1 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0.000071/1 (ALFA)
                          T=0.000011/1 (GnomAD)
                          T=0.000011/1 (GnomAD_exomes)
                          T=0.000011/3 (TOPMED)
                          HGVS:
                          13.

                          rs1344083992 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            X:135123321 (GRCh38)
                            X:134257249 (GRCh37)
                            Canonical SPDI:
                            NC_000023.11:135123320:A:G
                            Gene:
                            SMIM10L2B-AS1 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000031/3 (GnomAD_exomes)
                            G=0.000038/10 (TOPMED)
                            HGVS:
                            14.

                            rs1340706323 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              X:135123486 (GRCh38)
                              X:134257414 (GRCh37)
                              Canonical SPDI:
                              NC_000023.11:135123485:T:C
                              Gene:
                              SMIM10L2B-AS1 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              C=0./0 (ALFA)
                              C=0.00001/1 (GnomAD)
                              HGVS:
                              15.

                              rs1331837364 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                X:135123380 (GRCh38)
                                X:134257308 (GRCh37)
                                Canonical SPDI:
                                NC_000023.11:135123379:C:T
                                Gene:
                                SMIM10L2B-AS1 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000008/2 (TOPMED)
                                T=0.00001/1 (GnomAD_exomes)
                                HGVS:
                                16.

                                rs1287647035 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>C [Show Flanks]
                                  Chromosome:
                                  X:135123337 (GRCh38)
                                  X:134257265 (GRCh37)
                                  Canonical SPDI:
                                  NC_000023.11:135123336:G:C
                                  Gene:
                                  SMIM10L2B-AS1 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  C=0./0 (ALFA)
                                  HGVS:
                                  17.

                                  rs1281949964 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    X:135123478 (GRCh38)
                                    X:134257406 (GRCh37)
                                    Canonical SPDI:
                                    NC_000023.11:135123477:T:C
                                    Gene:
                                    SMIM10L2B-AS1 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    C=0./0 (ALFA)
                                    HGVS:
                                    18.

                                    rs1276840675 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      X:135123308 (GRCh38)
                                      X:134257236 (GRCh37)
                                      Canonical SPDI:
                                      NC_000023.11:135123307:T:C
                                      Gene:
                                      SMIM10L2B-AS1 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000004/1 (TOPMED)
                                      C=0.00002/2 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1263563382 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        X:135123330 (GRCh38)
                                        X:134257258 (GRCh37)
                                        Canonical SPDI:
                                        NC_000023.11:135123329:G:A
                                        Gene:
                                        SMIM10L2B-AS1 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000008/2 (TOPMED)
                                        A=0.00001/1 (GnomAD_exomes)
                                        HGVS:
                                        20.

                                        rs1251657927 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          X:135123258 (GRCh38)
                                          X:134257186 (GRCh37)
                                          Canonical SPDI:
                                          NC_000023.11:135123257:T:C
                                          Gene:
                                          SMIM10L2B-AS1 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0.000178/4 (ALFA)
                                          C=0.00003/3 (GnomAD)
                                          C=0.00003/8 (TOPMED)
                                          C=0.000042/2 (GnomAD_exomes)
                                          HGVS:

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