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Items: 1 to 20 of 2339

1.

rs1491438953 has merged into rs556121607 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTTTT [Show Flanks]
    Chromosome:
    12:126096663 (GRCh38)
    12:126581209 (GRCh37)
    Canonical SPDI:
    NC_000012.12:126096650:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000012.12:126096650:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000012.12:126096650:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:126096650:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000012.12:126096650:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000012.12:126096650:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000012.12:126096650:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000012.12:126096650:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000012.12:126096650:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT
    Gene:
    LINC02359 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TTTTTTTTTTTTTTTTTT=0./0 (ALFA)
    -=0.2426/1215 (1000Genomes)
    HGVS:
    2.

    rs1491082818 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      GC>- [Show Flanks]
      Chromosome:
      12:126099926 (GRCh38)
      12:126584472 (GRCh37)
      Canonical SPDI:
      NC_000012.12:126099924:CGC:C
      Gene:
      LINC02359 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      C=0./0 (ALFA)
      HGVS:
      3.

      rs1491049926 has merged into rs72375282 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        ATAT>-,AT,ATATAT,ATATATAT,ATATATATAT [Show Flanks]
        Chromosome:
        12:126097630 (GRCh38)
        12:126582176 (GRCh37)
        Canonical SPDI:
        NC_000012.12:126097616:TATATATATATATATAT:TATATATATATAT,NC_000012.12:126097616:TATATATATATATATAT:TATATATATATATAT,NC_000012.12:126097616:TATATATATATATATAT:TATATATATATATATATAT,NC_000012.12:126097616:TATATATATATATATAT:TATATATATATATATATATAT,NC_000012.12:126097616:TATATATATATATATAT:TATATATATATATATATATATAT
        Gene:
        LINC02359 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        TATATATATATATATATATAT=0./0 (ALFA)
        -=0.24718/65426 (TOPMED)
        HGVS:
        4.

        rs1490901836 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          12:126104183 (GRCh38)
          12:126588729 (GRCh37)
          Canonical SPDI:
          NC_000012.12:126104182:G:A
          Gene:
          LINC02359 (Varview)
          Functional Consequence:
          downstream_transcript_variant,500B_downstream_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.000008/2 (TOPMED)
          A=0.000014/2 (GnomAD)
          HGVS:
          5.

          rs1490831595 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            12:126097890 (GRCh38)
            12:126582436 (GRCh37)
            Canonical SPDI:
            NC_000012.12:126097889:T:C
            Gene:
            LINC02359 (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.

            rs1490805386 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>T [Show Flanks]
              Chromosome:
              12:126100038 (GRCh38)
              12:126584584 (GRCh37)
              Canonical SPDI:
              NC_000012.12:126100037:G:T
              Gene:
              LINC02359 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              T=0./0 (ALFA)
              HGVS:
              7.

              rs1490778496 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                12:126096916 (GRCh38)
                12:126581462 (GRCh37)
                Canonical SPDI:
                NC_000012.12:126096915:C:T
                Gene:
                LINC02359 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0.000071/1 (ALFA)
                T=0.000007/1 (GnomAD)
                T=0.000015/4 (TOPMED)
                HGVS:
                8.

                rs1490340665 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  12:126098335 (GRCh38)
                  12:126582881 (GRCh37)
                  Canonical SPDI:
                  NC_000012.12:126098334:A:G
                  Gene:
                  LINC02359 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000004/1 (TOPMED)
                  G=0.000014/2 (GnomAD)
                  HGVS:
                  9.

                  rs1490268469 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>A,C [Show Flanks]
                    Chromosome:
                    12:126097478 (GRCh38)
                    12:126582024 (GRCh37)
                    Canonical SPDI:
                    NC_000012.12:126097477:T:A,NC_000012.12:126097477:T:C
                    Gene:
                    LINC02359 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000036/5 (GnomAD)
                    C=0.000053/14 (TOPMED)
                    HGVS:
                    10.

                    rs1489988811 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      ->A [Show Flanks]
                      Chromosome:
                      12:126100948 (GRCh38)
                      12:126585495 (GRCh37)
                      Canonical SPDI:
                      NC_000012.12:126100948:A:AA
                      Gene:
                      LINC02359 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by cluster
                      MAF:
                      A=0.000287/35 (GnomAD)
                      HGVS:
                      11.

                      rs1489829166 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        12:126098822 (GRCh38)
                        12:126583368 (GRCh37)
                        Canonical SPDI:
                        NC_000012.12:126098821:A:G
                        Gene:
                        LINC02359 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000004/1 (TOPMED)
                        HGVS:
                        12.

                        rs1489276673 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>G [Show Flanks]
                          Chromosome:
                          12:126095680 (GRCh38)
                          12:126580226 (GRCh37)
                          Canonical SPDI:
                          NC_000012.12:126095679:C:G
                          Gene:
                          LINC02359 (Varview)
                          Functional Consequence:
                          2KB_upstream_variant,upstream_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000007/1 (GnomAD)
                          HGVS:
                          13.

                          rs1489268817 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            GA>- [Show Flanks]
                            Chromosome:
                            12:126104345 (GRCh38)
                            12:126588891 (GRCh37)
                            Canonical SPDI:
                            NC_000012.12:126104341:AGAGA:AGA
                            Gene:
                            LINC02359 (Varview)
                            Functional Consequence:
                            downstream_transcript_variant,500B_downstream_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            AGA=0./0 (ALFA)
                            -=0.000021/3 (GnomAD)
                            -=0.000023/6 (TOPMED)
                            HGVS:
                            14.

                            rs1489236879 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              12:126095077 (GRCh38)
                              12:126579623 (GRCh37)
                              Canonical SPDI:
                              NC_000012.12:126095076:G:A
                              Gene:
                              LINC02359 (Varview)
                              Functional Consequence:
                              2KB_upstream_variant,upstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000004/1 (TOPMED)
                              A=0.000007/1 (GnomAD)
                              HGVS:
                              15.

                              rs1488879138 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>T [Show Flanks]
                                Chromosome:
                                12:126099291 (GRCh38)
                                12:126583837 (GRCh37)
                                Canonical SPDI:
                                NC_000012.12:126099290:A:T
                                Gene:
                                LINC02359 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000029/4 (GnomAD)
                                T=0.000034/9 (TOPMED)
                                HGVS:
                                16.

                                rs1488316761 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  12:126100171 (GRCh38)
                                  12:126584717 (GRCh37)
                                  Canonical SPDI:
                                  NC_000012.12:126100170:T:C
                                  Gene:
                                  LINC02359 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000007/1 (GnomAD)
                                  C=0.000008/2 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1488298628 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>A [Show Flanks]
                                    Chromosome:
                                    12:126094448 (GRCh38)
                                    12:126578994 (GRCh37)
                                    Canonical SPDI:
                                    NC_000012.12:126094447:C:A
                                    Gene:
                                    LINC02359 (Varview)
                                    Functional Consequence:
                                    2KB_upstream_variant,upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000004/1 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1488268318 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>A [Show Flanks]
                                      Chromosome:
                                      12:126099172 (GRCh38)
                                      12:126583718 (GRCh37)
                                      Canonical SPDI:
                                      NC_000012.12:126099171:C:A
                                      Gene:
                                      LINC02359 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0.000071/1 (ALFA)
                                      A=0.000014/2 (GnomAD)
                                      A=0.000019/5 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1488238090 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        12:126098934 (GRCh38)
                                        12:126583480 (GRCh37)
                                        Canonical SPDI:
                                        NC_000012.12:126098933:A:G
                                        Gene:
                                        LINC02359 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000007/1 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1487898119 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          12:126099836 (GRCh38)
                                          12:126584382 (GRCh37)
                                          Canonical SPDI:
                                          NC_000012.12:126099835:A:G
                                          Gene:
                                          LINC02359 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000004/1 (TOPMED)
                                          HGVS:

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