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Links from Nucleotide

Items: 1 to 20 of 146

1.

rs1488162165 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>A,T [Show Flanks]
    Chromosome:
    19:37265464 (GRCh38)
    19:37756366 (GRCh37)
    Canonical SPDI:
    NC_000019.10:37265463:C:A,NC_000019.10:37265463:C:T
    Gene:
    LOC284412 (Varview), LINC01535 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,genic_downstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    T=0.00004/1 (TOMMO)
    HGVS:
    2.

    rs1487801643 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      19:37265373 (GRCh38)
      19:37756275 (GRCh37)
      Canonical SPDI:
      NC_000019.10:37265372:C:T
      Gene:
      LINC01535 (Varview)
      Functional Consequence:
      non_coding_transcript_variant,genic_downstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      T=0.000034/9 (TOPMED)
      T=0.000036/5 (GnomAD)
      HGVS:
      3.

      rs1483709752 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        19:37265476 (GRCh38)
        19:37756378 (GRCh37)
        Canonical SPDI:
        NC_000019.10:37265475:C:T
        Gene:
        LOC284412 (Varview), LINC01535 (Varview)
        Functional Consequence:
        non_coding_transcript_variant,genic_downstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant
        Validated:
        by frequency,by alfa
        MAF:
        T=0./0 (ALFA)
        T=0.000004/1 (TOPMED)
        HGVS:
        4.

        rs1479056377 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>T [Show Flanks]
          Chromosome:
          19:37251959 (GRCh38)
          19:37742861 (GRCh37)
          Canonical SPDI:
          NC_000019.10:37251958:A:T
          Gene:
          LINC01535 (Varview)
          Functional Consequence:
          non_coding_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          T=0./0 (ALFA)
          HGVS:
          5.

          rs1476563335 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>G [Show Flanks]
            Chromosome:
            19:37251927 (GRCh38)
            19:37742829 (GRCh37)
            Canonical SPDI:
            NC_000019.10:37251926:C:G
            Gene:
            LINC01535 (Varview)
            Functional Consequence:
            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:
            6.

            rs1473384020 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>A [Show Flanks]
              Chromosome:
              19:37251985 (GRCh38)
              19:37742887 (GRCh37)
              Canonical SPDI:
              NC_000019.10:37251984:T:A
              Gene:
              LINC01535 (Varview)
              Functional Consequence:
              non_coding_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0.000071/1 (ALFA)
              A=0.000007/1 (GnomAD)
              A=0.000008/2 (TOPMED)
              HGVS:
              7.

              rs1473108259 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G,T [Show Flanks]
                Chromosome:
                19:37255956 (GRCh38)
                19:37746858 (GRCh37)
                Canonical SPDI:
                NC_000019.10:37255955:A:G,NC_000019.10:37255955:A:T
                Gene:
                LINC01535 (Varview)
                Functional Consequence:
                non_coding_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                G=0.000004/1 (TOPMED)
                T=0.000007/1 (GnomAD)
                HGVS:
                8.

                rs1467253229 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  19:37255981 (GRCh38)
                  19:37746883 (GRCh37)
                  Canonical SPDI:
                  NC_000019.10:37255980:A:G
                  Gene:
                  LINC01535 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000004/1 (TOPMED)
                  HGVS:
                  9.

                  rs1463798815 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    ATGGGAGCGCCTGCCTAAC>-,ATGGGAGCGCCTGCCTAACATGGGAGCGCCTGCCTAAC [Show Flanks]
                    Chromosome:
                    19:37251984 (GRCh38)
                    19:37742886 (GRCh37)
                    Canonical SPDI:
                    NC_000019.10:37251968:GAGCGCCTGCCTAACATGGGAGCGCCTGCCTAAC:GAGCGCCTGCCTAAC,NC_000019.10:37251968:GAGCGCCTGCCTAACATGGGAGCGCCTGCCTAAC:GAGCGCCTGCCTAACATGGGAGCGCCTGCCTAACATGGGAGCGCCTGCCTAAC
                    Gene:
                    LINC01535 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    GAGCGCCTGCCTAACATGGGAGCGCCTGCCTAACATGGGAGCGCCTGCCTAAC=0./0 (ALFA)
                    -=0.000021/3 (GnomAD)
                    -=0.000106/2 (TOMMO)
                    HGVS:
                    10.

                    rs1460558258 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      ->GCT [Show Flanks]
                      Chromosome:
                      19:37255903 (GRCh38)
                      19:37746806 (GRCh37)
                      Canonical SPDI:
                      NC_000019.10:37255903:CTGCT:CTGCTGCT
                      Gene:
                      LINC01535 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      CTGCTGCT=0.000071/1 (ALFA)
                      CTG=0.000007/1 (GnomAD)
                      CTG=0.000011/3 (TOPMED)
                      HGVS:
                      11.

                      rs1456380831 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        19:37265326 (GRCh38)
                        19:37756228 (GRCh37)
                        Canonical SPDI:
                        NC_000019.10:37265325:A:G
                        Gene:
                        LINC01535 (Varview)
                        Functional Consequence:
                        genic_downstream_transcript_variant,non_coding_transcript_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000004/1 (TOPMED)
                        HGVS:
                        12.

                        rs1456301042 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>C [Show Flanks]
                          Chromosome:
                          19:37265402 (GRCh38)
                          19:37756304 (GRCh37)
                          Canonical SPDI:
                          NC_000019.10:37265401:A:C
                          Gene:
                          LINC01535 (Varview)
                          Functional Consequence:
                          genic_downstream_transcript_variant,non_coding_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0.00034/4 (ALFA)
                          C=0.00011/2 (TOMMO)
                          HGVS:
                          13.

                          rs1447990211 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            19:37265357 (GRCh38)
                            19:37756259 (GRCh37)
                            Canonical SPDI:
                            NC_000019.10:37265356:C:T
                            Gene:
                            LINC01535 (Varview)
                            Functional Consequence:
                            genic_downstream_transcript_variant,non_coding_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000014/2 (GnomAD)
                            T=0.000071/1 (TOMMO)
                            T=0.000156/1 (1000Genomes)
                            HGVS:
                            14.

                            rs1446682919 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>A [Show Flanks]
                              Chromosome:
                              19:37265390 (GRCh38)
                              19:37756292 (GRCh37)
                              Canonical SPDI:
                              NC_000019.10:37265389:C:A
                              Gene:
                              LINC01535 (Varview)
                              Functional Consequence:
                              genic_downstream_transcript_variant,non_coding_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              A=0./0 (ALFA)
                              HGVS:
                              15.

                              rs1444095596 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                19:37252076 (GRCh38)
                                19:37742978 (GRCh37)
                                Canonical SPDI:
                                NC_000019.10:37252075:C:T
                                Gene:
                                LINC01535 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000004/1 (TOPMED)
                                T=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1443541002 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>T [Show Flanks]
                                  Chromosome:
                                  19:37251935 (GRCh38)
                                  19:37742837 (GRCh37)
                                  Canonical SPDI:
                                  NC_000019.10:37251934:G:T
                                  Gene:
                                  LINC01535 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000004/1 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1443163574 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>G [Show Flanks]
                                    Chromosome:
                                    19:37265307 (GRCh38)
                                    19:37756209 (GRCh37)
                                    Canonical SPDI:
                                    NC_000019.10:37265306:C:G
                                    Gene:
                                    LINC01535 (Varview)
                                    Functional Consequence:
                                    genic_downstream_transcript_variant,non_coding_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000007/1 (GnomAD)
                                    G=0.000011/3 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1442169341 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>C,T [Show Flanks]
                                      Chromosome:
                                      19:37251934 (GRCh38)
                                      19:37742836 (GRCh37)
                                      Canonical SPDI:
                                      NC_000019.10:37251933:G:C,NC_000019.10:37251933:G:T
                                      Gene:
                                      LINC01535 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0.000071/1 (ALFA)
                                      T=0.000004/1 (TOPMED)
                                      C=0.000156/1 (1000Genomes)
                                      HGVS:
                                      19.

                                      rs1442153150 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A,C [Show Flanks]
                                        Chromosome:
                                        19:37252100 (GRCh38)
                                        19:37743002 (GRCh37)
                                        Canonical SPDI:
                                        NC_000019.10:37252099:G:A,NC_000019.10:37252099:G:C
                                        Gene:
                                        LINC01535 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000004/1 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1438021772 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>T [Show Flanks]
                                          Chromosome:
                                          19:37252108 (GRCh38)
                                          19:37743010 (GRCh37)
                                          Canonical SPDI:
                                          NC_000019.10:37252107:A:T
                                          Gene:
                                          LINC01535 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000004/1 (TOPMED)
                                          HGVS:

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