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Items: 1 to 20 of 4090

1.

rs1491542441 has merged into rs35113577 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    CACA>-,CA,CACACA,CACACACA,CACACACACA [Show Flanks]
    Chromosome:
    14:100669677 (GRCh38)
    14:101136014 (GRCh37)
    Canonical SPDI:
    NC_000014.9:100669663:ACACACACACACACACA:ACACACACACACA,NC_000014.9:100669663:ACACACACACACACACA:ACACACACACACACA,NC_000014.9:100669663:ACACACACACACACACA:ACACACACACACACACACA,NC_000014.9:100669663:ACACACACACACACACA:ACACACACACACACACACACA,NC_000014.9:100669663:ACACACACACACACACA:ACACACACACACACACACACACA
    Gene:
    LINC00523 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    ACACACACACACACACACACACA=0./0 (ALFA)
    AC=0.04433/743 (TOMMO)
    -=0.27783/1243 (Estonian)
    -=0.33833/203 (NorthernSweden)
    AC=0.35284/1767 (1000Genomes)
    HGVS:
    2.

    rs1491029316 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      ->GA [Show Flanks]
      Chromosome:
      14:100669679 (GRCh38)
      14:101136017 (GRCh37)
      Canonical SPDI:
      NC_000014.9:100669679:AGA:AGAGA
      Gene:
      LINC00523 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      AGAGA=0.000084/1 (ALFA)
      AG=0.000014/2 (GnomAD)
      HGVS:
      3.

      rs1490923917 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        14:100660108 (GRCh38)
        14:101126445 (GRCh37)
        Canonical SPDI:
        NC_000014.9:100660107:G:A
        Gene:
        LINC00523 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        A=0.000071/1 (ALFA)
        A=0.000004/1 (TOPMED)
        HGVS:
        4.

        rs1490789734 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          14:100657485 (GRCh38)
          14:101123822 (GRCh37)
          Canonical SPDI:
          NC_000014.9:100657484:T:C
          Gene:
          LINC00523 (Varview)
          Functional Consequence:
          non_coding_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          C=0./0 (ALFA)
          C=0.000004/1 (TOPMED)
          HGVS:
          5.

          rs1490518025 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            14:100665042 (GRCh38)
            14:101131379 (GRCh37)
            Canonical SPDI:
            NC_000014.9:100665041:C:T
            Gene:
            LINC00523 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            T=0.000011/3 (TOPMED)
            T=0.000014/2 (GnomAD)
            HGVS:
            6.

            rs1490480848 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>T [Show Flanks]
              Chromosome:
              14:100662954 (GRCh38)
              14:101129291 (GRCh37)
              Canonical SPDI:
              NC_000014.9:100662953:G:T
              Gene:
              LINC00523 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              T=0.000071/1 (ALFA)
              T=0.000007/1 (GnomAD)
              HGVS:
              7.

              rs1490220008 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                14:100665286 (GRCh38)
                14:101131623 (GRCh37)
                Canonical SPDI:
                NC_000014.9:100665285:C:T
                Gene:
                LINC00523 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0.000132/2 (ALFA)
                T=0.000007/1 (GnomAD)
                T=0.000106/2 (TOMMO)
                T=0.000446/2 (Estonian)
                HGVS:
                8.

                rs1489745989 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  14:100667599 (GRCh38)
                  14:101133936 (GRCh37)
                  Canonical SPDI:
                  NC_000014.9:100667598:A:G
                  Gene:
                  LINC00523 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  G=0.000071/1 (ALFA)
                  G=0.000004/1 (TOPMED)
                  HGVS:
                  9.

                  rs1489661800 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    14:100666299 (GRCh38)
                    14:101132636 (GRCh37)
                    Canonical SPDI:
                    NC_000014.9:100666298:T:C
                    Gene:
                    LINC00523 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0./0 (ALFA)
                    C=0.00003/8 (TOPMED)
                    C=0.000036/5 (GnomAD)
                    HGVS:
                    10.

                    rs1489649168 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      14:100666569 (GRCh38)
                      14:101132906 (GRCh37)
                      Canonical SPDI:
                      NC_000014.9:100666568:A:G
                      Gene:
                      LINC00523 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000004/1 (TOPMED)
                      HGVS:
                      11.

                      rs1489376716 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        14:100670524 (GRCh38)
                        14:101136861 (GRCh37)
                        Canonical SPDI:
                        NC_000014.9:100670523:A:G
                        Gene:
                        LINC00523 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000004/1 (TOPMED)
                        HGVS:
                        12.

                        rs1489159105 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          14:100660248 (GRCh38)
                          14:101126585 (GRCh37)
                          Canonical SPDI:
                          NC_000014.9:100660247:G:A
                          Gene:
                          LINC00523 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000015/4 (TOPMED)
                          A=0.000021/3 (GnomAD)
                          HGVS:
                          13.

                          rs1489121140 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            14:100667886 (GRCh38)
                            14:101134223 (GRCh37)
                            Canonical SPDI:
                            NC_000014.9:100667885:G:A
                            Gene:
                            LINC00523 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000008/2 (TOPMED)
                            A=0.000546/1 (Korea1K)
                            HGVS:
                            14.

                            rs1488923156 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              14:100660130 (GRCh38)
                              14:101126467 (GRCh37)
                              Canonical SPDI:
                              NC_000014.9:100660129:G:A
                              Gene:
                              LINC00523 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000007/1 (GnomAD)
                              A=0.000156/1 (1000Genomes)
                              HGVS:
                              15.

                              rs1488910213 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                14:100659574 (GRCh38)
                                14:101125911 (GRCh37)
                                Canonical SPDI:
                                NC_000014.9:100659573:G:A
                                Gene:
                                LINC00523 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000004/1 (TOPMED)
                                A=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1488881611 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  14:100660575 (GRCh38)
                                  14:101126912 (GRCh37)
                                  Canonical SPDI:
                                  NC_000014.9:100660574:T:C
                                  Gene:
                                  LINC00523 (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:
                                  17.

                                  rs1488648901 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>A [Show Flanks]
                                    Chromosome:
                                    14:100661042 (GRCh38)
                                    14:101127379 (GRCh37)
                                    Canonical SPDI:
                                    NC_000014.9:100661041:C:A
                                    Gene:
                                    LINC00523 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by cluster
                                    MAF:
                                    A=0.000007/1 (GnomAD)
                                    A=0.001369/4 (KOREAN)
                                    A=0.001982/33 (TOMMO)
                                    A=0.004367/8 (Korea1K)
                                    HGVS:
                                    18.

                                    rs1488617707 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      14:100659004 (GRCh38)
                                      14:101125341 (GRCh37)
                                      Canonical SPDI:
                                      NC_000014.9:100659003:G:A
                                      Gene:
                                      LINC00523 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000007/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1488198971 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        14:100657868 (GRCh38)
                                        14:101124205 (GRCh37)
                                        Canonical SPDI:
                                        NC_000014.9:100657867:G:A
                                        Gene:
                                        LINC00523 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000004/1 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1488195186 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          14:100667740 (GRCh38)
                                          14:101134077 (GRCh37)
                                          Canonical SPDI:
                                          NC_000014.9:100667739:G:A
                                          Gene:
                                          LINC00523 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000007/1 (GnomAD)
                                          HGVS:

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