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Items: 1 to 20 of 9774

1.

rs1491228204 has merged into rs5883835 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    AAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
    Chromosome:
    7:42669053 (GRCh38)
    7:42708652 (GRCh37)
    Canonical SPDI:
    NC_000007.14:42669043:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000007.14:42669043:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000007.14:42669043:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000007.14:42669043:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000007.14:42669043:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000007.14:42669043:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000007.14:42669043:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000007.14:42669043:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000007.14:42669043:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000007.14:42669043:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000007.14:42669043:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000007.14:42669043:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:42669043:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:42669043:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:42669043:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:42669043:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:42669043:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:42669043:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
    Gene:
    LINC01448 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    AAAAAAAAA=0./0 (ALFA)
    HGVS:
    NC_000007.14:g.42669053_42669065del, NC_000007.14:g.42669054_42669065del, NC_000007.14:g.42669055_42669065del, NC_000007.14:g.42669056_42669065del, NC_000007.14:g.42669057_42669065del, NC_000007.14:g.42669058_42669065del, NC_000007.14:g.42669059_42669065del, NC_000007.14:g.42669062_42669065del, NC_000007.14:g.42669063_42669065del, NC_000007.14:g.42669064_42669065del, NC_000007.14:g.42669065del, NC_000007.14:g.42669065dup, NC_000007.14:g.42669064_42669065dup, NC_000007.14:g.42669063_42669065dup, NC_000007.14:g.42669062_42669065dup, NC_000007.14:g.42669061_42669065dup, NC_000007.14:g.42669060_42669065dup, NC_000007.14:g.42669046_42669065dup, NC_000007.13:g.42708652_42708664del, NC_000007.13:g.42708653_42708664del, NC_000007.13:g.42708654_42708664del, NC_000007.13:g.42708655_42708664del, NC_000007.13:g.42708656_42708664del, NC_000007.13:g.42708657_42708664del, NC_000007.13:g.42708658_42708664del, NC_000007.13:g.42708661_42708664del, NC_000007.13:g.42708662_42708664del, NC_000007.13:g.42708663_42708664del, NC_000007.13:g.42708664del, NC_000007.13:g.42708664dup, NC_000007.13:g.42708663_42708664dup, NC_000007.13:g.42708662_42708664dup, NC_000007.13:g.42708661_42708664dup, NC_000007.13:g.42708660_42708664dup, NC_000007.13:g.42708659_42708664dup, NC_000007.13:g.42708645_42708664dup
    2.

    rs1491159051 has merged into rs143551738 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      CTATCTATCTAT>-,CTAT,CTATCTAT,CTATCTATCTATCTAT,CTATCTATCTATCTATCTAT,CTATCTATCTATCTATCTATCTAT,CTATCTATCTATCTATCTATCTATCTAT [Show Flanks]
      Chromosome:
      7:42701355 (GRCh38)
      7:42740954 (GRCh37)
      Canonical SPDI:
      NC_000007.14:42701339:TATCTATCTATCTATCTATCTATCTAT:TATCTATCTATCTAT,NC_000007.14:42701339:TATCTATCTATCTATCTATCTATCTAT:TATCTATCTATCTATCTAT,NC_000007.14:42701339:TATCTATCTATCTATCTATCTATCTAT:TATCTATCTATCTATCTATCTAT,NC_000007.14:42701339:TATCTATCTATCTATCTATCTATCTAT:TATCTATCTATCTATCTATCTATCTATCTAT,NC_000007.14:42701339:TATCTATCTATCTATCTATCTATCTAT:TATCTATCTATCTATCTATCTATCTATCTATCTAT,NC_000007.14:42701339:TATCTATCTATCTATCTATCTATCTAT:TATCTATCTATCTATCTATCTATCTATCTATCTATCTAT,NC_000007.14:42701339:TATCTATCTATCTATCTATCTATCTAT:TATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTAT
      Gene:
      LINC01448 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      TATCTATCTATCTATCTATCTATCTATCTATCTAT=0./0 (ALFA)
      TATC=0.025/1 (GENOME_DK)
      -=0.03241/7 (Vietnamese)
      HGVS:
      3.

      rs1491125035 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        CA>- [Show Flanks]
        Chromosome:
        7:42669043 (GRCh38)
        7:42708642 (GRCh37)
        Canonical SPDI:
        NC_000007.14:42669042:CA:
        Gene:
        LINC01448 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        -=0.00051/6 (ALFA)
        HGVS:
        4.

        rs1490841292 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>T [Show Flanks]
          Chromosome:
          7:42684050 (GRCh38)
          7:42723649 (GRCh37)
          Canonical SPDI:
          NC_000007.14:42684049:A:T
          Gene:
          LINC01448 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          T=0./0 (ALFA)
          T=0.000008/2 (TOPMED)
          HGVS:
          5.

          rs1490835986 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            7:42685836 (GRCh38)
            7:42725435 (GRCh37)
            Canonical SPDI:
            NC_000007.14:42685835:G:A
            Gene:
            LINC01448 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0./0 (ALFA)
            A=0.000011/3 (TOPMED)
            A=0.000014/2 (GnomAD)
            A=0.000142/2 (TOMMO)
            HGVS:
            6.

            rs1490724270 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              7:42688051 (GRCh38)
              7:42727650 (GRCh37)
              Canonical SPDI:
              NC_000007.14:42688050:G:A
              Gene:
              LINC01448 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0./0 (ALFA)
              A=0.000007/1 (GnomAD)
              A=0.000011/3 (TOPMED)
              HGVS:
              7.

              rs1490634037 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                7:42701328 (GRCh38)
                7:42740927 (GRCh37)
                Canonical SPDI:
                NC_000007.14:42701327:A:G
                Gene:
                LINC01448 (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:
                8.

                rs1490592487 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>T [Show Flanks]
                  Chromosome:
                  7:42674670 (GRCh38)
                  7:42714269 (GRCh37)
                  Canonical SPDI:
                  NC_000007.14:42674669:G:T
                  Gene:
                  LINC01448 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000004/1 (TOPMED)
                  T=0.000014/2 (GnomAD)
                  T=0.000035/1 (TOMMO)
                  HGVS:
                  9.

                  rs1490563941 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    7:42686977 (GRCh38)
                    7:42726576 (GRCh37)
                    Canonical SPDI:
                    NC_000007.14:42686976:G:A
                    Gene:
                    LINC01448 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000004/1 (TOPMED)
                    A=0.000021/3 (GnomAD)
                    A=0.014019/3 (Vietnamese)
                    HGVS:
                    10.

                    rs1490513480 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      7:42693152 (GRCh38)
                      7:42732751 (GRCh37)
                      Canonical SPDI:
                      NC_000007.14:42693151:G:A
                      Gene:
                      LINC01448 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000007/1 (GnomAD)
                      HGVS:
                      11.

                      rs1490444287 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>T [Show Flanks]
                        Chromosome:
                        7:42675845 (GRCh38)
                        7:42715444 (GRCh37)
                        Canonical SPDI:
                        NC_000007.14:42675844:G:T
                        Gene:
                        LINC01448 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000008/2 (TOPMED)
                        HGVS:
                        12.

                        rs1490370682 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A,T [Show Flanks]
                          Chromosome:
                          7:42704310 (GRCh38)
                          7:42743909 (GRCh37)
                          Canonical SPDI:
                          NC_000007.14:42704309:G:A,NC_000007.14:42704309:G:T
                          Gene:
                          LINC01448 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          A=0.000007/1 (GnomAD)
                          HGVS:
                          13.

                          rs1490359751 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            7:42667572 (GRCh38)
                            7:42707171 (GRCh37)
                            Canonical SPDI:
                            NC_000007.14:42667571:G:A
                            Gene:
                            LINC01448 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0.000216/4 (ALFA)
                            A=0.000026/7 (TOPMED)
                            A=0.000036/5 (GnomAD)
                            A=0.000446/2 (Estonian)
                            HGVS:
                            14.

                            rs1490345850 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              7:42692683 (GRCh38)
                              7:42732282 (GRCh37)
                              Canonical SPDI:
                              NC_000007.14:42692682:T:C
                              Gene:
                              LINC01448 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000004/1 (TOPMED)
                              HGVS:
                              15.

                              rs1490307135 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>T [Show Flanks]
                                Chromosome:
                                7:42664187 (GRCh38)
                                7:42703786 (GRCh37)
                                Canonical SPDI:
                                NC_000007.14:42664186:A:T
                                Gene:
                                LINC01448 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0.000071/1 (ALFA)
                                T=0.000004/1 (TOPMED)
                                T=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1490278947 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>T [Show Flanks]
                                  Chromosome:
                                  7:42691666 (GRCh38)
                                  7:42731265 (GRCh37)
                                  Canonical SPDI:
                                  NC_000007.14:42691665:A:T
                                  Gene:
                                  LINC01448 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000004/1 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1490214860 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    7:42707367 (GRCh38)
                                    7:42746966 (GRCh37)
                                    Canonical SPDI:
                                    NC_000007.14:42707366:C:T
                                    Gene:
                                    LINC01448 (Varview)
                                    Functional Consequence:
                                    2KB_upstream_variant,upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000007/1 (GnomAD)
                                    T=0.000011/3 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1490162015 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      7:42705549 (GRCh38)
                                      7:42745148 (GRCh37)
                                      Canonical SPDI:
                                      NC_000007.14:42705548:A:G
                                      Gene:
                                      LINC01448 (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)
                                      G=0.001062/18 (TOMMO)
                                      HGVS:
                                      19.

                                      rs1490161367 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C,G [Show Flanks]
                                        Chromosome:
                                        7:42683573 (GRCh38)
                                        7:42723172 (GRCh37)
                                        Canonical SPDI:
                                        NC_000007.14:42683572:T:C,NC_000007.14:42683572:T:G
                                        Gene:
                                        LINC01448 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        G=0./0 (ALFA)
                                        HGVS:
                                        20.

                                        rs1490153720 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          7:42667142 (GRCh38)
                                          7:42706741 (GRCh37)
                                          Canonical SPDI:
                                          NC_000007.14:42667141:G:A
                                          Gene:
                                          LINC01448 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000007/1 (GnomAD)
                                          A=0.000008/2 (TOPMED)
                                          HGVS:

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