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Items: 1 to 20 of 6141

1.

rs1490607039 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    13:110986625 (GRCh38)
    13:111638972 (GRCh37)
    Canonical SPDI:
    NC_000013.11:110986624:T:C
    Gene:
    LINC00431 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0./0 (ALFA)
    C=0.000004/1 (TOPMED)
    C=0.000007/1 (GnomAD)
    HGVS:
    2.

    rs1490606379 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      13:110971962 (GRCh38)
      13:111624309 (GRCh37)
      Canonical SPDI:
      NC_000013.11:110971961:G:A
      Gene:
      LINC00431 (Varview), LOC105370364 (Varview)
      Functional Consequence:
      intron_variant,2KB_upstream_variant,upstream_transcript_variant
      Validated:
      by frequency,by alfa
      MAF:
      A=0./0 (ALFA)
      A=0.000004/1 (TOPMED)
      HGVS:
      3.

      rs1490187099 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>G [Show Flanks]
        Chromosome:
        13:110979089 (GRCh38)
        13:111631436 (GRCh37)
        Canonical SPDI:
        NC_000013.11:110979088:C:G
        Gene:
        LINC00431 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0./0 (ALFA)
        G=0.000004/1 (TOPMED)
        G=0.000007/1 (GnomAD)
        HGVS:
        4.

        rs1490117283 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          13:110987103 (GRCh38)
          13:111639450 (GRCh37)
          Canonical SPDI:
          NC_000013.11:110987102:T:C
          Gene:
          LINC00431 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0./0 (ALFA)
          C=0.000004/1 (TOPMED)
          C=0.000014/2 (GnomAD)
          HGVS:
          5.

          rs1490068878 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            13:110979312 (GRCh38)
            13:111631659 (GRCh37)
            Canonical SPDI:
            NC_000013.11:110979311:T:C
            Gene:
            LINC00431 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0./0 (ALFA)
            C=0.000004/1 (TOPMED)
            C=0.000007/1 (GnomAD)
            HGVS:
            6.

            rs1490032237 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>A [Show Flanks]
              Chromosome:
              13:110991032 (GRCh38)
              13:111643379 (GRCh37)
              Canonical SPDI:
              NC_000013.11:110991031:T:A
              Gene:
              LINC00431 (Varview)
              Functional Consequence:
              500B_downstream_variant,downstream_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              A=0./0 (ALFA)
              A=0.000014/2 (GnomAD)
              HGVS:
              7.

              rs1490003485 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                13:110965467 (GRCh38)
                13:111617814 (GRCh37)
                Canonical SPDI:
                NC_000013.11:110965466:T:C
                Gene:
                LINC00431 (Varview), LOC105370364 (Varview)
                Functional Consequence:
                genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                C=0.000071/1 (ALFA)
                C=0.000008/2 (TOPMED)
                HGVS:
                8.

                rs1489823456 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  13:110979073 (GRCh38)
                  13:111631420 (GRCh37)
                  Canonical SPDI:
                  NC_000013.11:110979072:A:G
                  Gene:
                  LINC00431 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000004/1 (TOPMED)
                  HGVS:
                  9.

                  rs1489798114 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>G,T [Show Flanks]
                    Chromosome:
                    13:110976672 (GRCh38)
                    13:111629019 (GRCh37)
                    Canonical SPDI:
                    NC_000013.11:110976671:C:G,NC_000013.11:110976671:C:T
                    Gene:
                    LINC00431 (Varview), LOC124903213 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000008/1 (GnomAD)
                    T=0.000011/3 (TOPMED)
                    G=0.000035/1 (TOMMO)
                    HGVS:
                    10.

                    rs1489729512 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      13:110964730 (GRCh38)
                      13:111617077 (GRCh37)
                      Canonical SPDI:
                      NC_000013.11:110964729:T:C
                      Gene:
                      LINC00431 (Varview), LOC105370364 (Varview)
                      Functional Consequence:
                      genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000004/1 (TOPMED)
                      C=0.000035/1 (TOMMO)
                      HGVS:
                      11.

                      rs1489458094 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        13:110979800 (GRCh38)
                        13:111632147 (GRCh37)
                        Canonical SPDI:
                        NC_000013.11:110979799:C:T
                        Gene:
                        LINC00431 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0.000071/1 (ALFA)
                        T=0.000007/1 (GnomAD)
                        T=0.000008/2 (TOPMED)
                        HGVS:
                        12.

                        rs1489054870 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          13:110966830 (GRCh38)
                          13:111619177 (GRCh37)
                          Canonical SPDI:
                          NC_000013.11:110966829:A:G
                          Gene:
                          LINC00431 (Varview), LOC105370364 (Varview)
                          Functional Consequence:
                          intron_variant,genic_upstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0.000071/1 (ALFA)
                          G=0.000004/1 (TOPMED)
                          G=0.000007/1 (GnomAD)
                          HGVS:
                          13.

                          rs1489040055 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            13:110975409 (GRCh38)
                            13:111627756 (GRCh37)
                            Canonical SPDI:
                            NC_000013.11:110975408:G:A
                            Gene:
                            LINC00431 (Varview), LOC124903213 (Varview)
                            Functional Consequence:
                            intron_variant,2KB_upstream_variant,upstream_transcript_variant
                            Validated:
                            by frequency
                            MAF:
                            A=0.000007/1 (GnomAD)
                            HGVS:
                            14.

                            rs1488694312 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              13:110979937 (GRCh38)
                              13:111632284 (GRCh37)
                              Canonical SPDI:
                              NC_000013.11:110979936:G:A
                              Gene:
                              LINC00431 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000004/1 (TOPMED)
                              HGVS:
                              15.

                              rs1488617032 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>A [Show Flanks]
                                Chromosome:
                                13:110980858 (GRCh38)
                                13:111633205 (GRCh37)
                                Canonical SPDI:
                                NC_000013.11:110980857:T:A
                                Gene:
                                LINC00431 (Varview)
                                Functional Consequence:
                                intron_variant
                                HGVS:
                                16.

                                rs1488569952 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  13:110988861 (GRCh38)
                                  13:111641208 (GRCh37)
                                  Canonical SPDI:
                                  NC_000013.11:110988860:A:G
                                  Gene:
                                  LINC00431 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000019/5 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1488529489 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>G [Show Flanks]
                                    Chromosome:
                                    13:110987605 (GRCh38)
                                    13:111639952 (GRCh37)
                                    Canonical SPDI:
                                    NC_000013.11:110987604:C:G
                                    Gene:
                                    LINC00431 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000004/1 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1488461766 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>C [Show Flanks]
                                      Chromosome:
                                      13:110969505 (GRCh38)
                                      13:111621852 (GRCh37)
                                      Canonical SPDI:
                                      NC_000013.11:110969504:G:C
                                      Gene:
                                      LINC00431 (Varview), LOC105370364 (Varview)
                                      Functional Consequence:
                                      intron_variant,genic_upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000004/1 (TOPMED)
                                      C=0.000007/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1488450220 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        13:110972300 (GRCh38)
                                        13:111624647 (GRCh37)
                                        Canonical SPDI:
                                        NC_000013.11:110972299:C:T
                                        Gene:
                                        LINC00431 (Varview), LOC105370364 (Varview)
                                        Functional Consequence:
                                        intron_variant,2KB_upstream_variant,upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000004/1 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1488268629 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          13:110966084 (GRCh38)
                                          13:111618431 (GRCh37)
                                          Canonical SPDI:
                                          NC_000013.11:110966083:A:G
                                          Gene:
                                          LINC00431 (Varview), LOC105370364 (Varview)
                                          Functional Consequence:
                                          genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000004/1 (TOPMED)
                                          HGVS:

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