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Items: 1 to 20 of 12801

1.

rs1491420408 has merged into rs113055433 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    TTTTTTTTT>-,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT [Show Flanks]
    Chromosome:
    1:212942520 (GRCh38)
    1:213115862 (GRCh37)
    Canonical SPDI:
    NC_000001.11:212942510:TTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000001.11:212942510:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:212942510:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:212942510:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:212942510:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:212942510:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:212942510:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:212942510:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TTTTTTTTTTTTTTT=0./0 (ALFA)
    -=0.000011/3 (TOPMED)
    -=0.053512/32 (NorthernSweden)
    -=0.214257/1073 (1000Genomes)
    HGVS:
    3.

    rs1491343641 has merged into rs113122383 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT [Show Flanks]
      Chromosome:
      1:212962987 (GRCh38)
      1:213136329 (GRCh37)
      Canonical SPDI:
      NC_000001.11:212962977:TTTTTTTTTTTT:TTTTTTTTT,NC_000001.11:212962977:TTTTTTTTTTTT:TTTTTTTTTT,NC_000001.11:212962977:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:212962977:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:212962977:TTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:212962977:TTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:212962977:TTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:212962977:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTT
      Gene:
      VASH2 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      TTTTTTTTTTTTTT=0./0 (ALFA)
      -=0.09509/428 (1000Genomes)
      HGVS:
      4.

      rs1491294855 has merged into rs140070220 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        GTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT [Show Flanks]
        Chromosome:
        1:212959278 (GRCh38)
        1:213132620 (GRCh37)
        Canonical SPDI:
        NC_000001.11:212959266:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGT,NC_000001.11:212959266:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGT,NC_000001.11:212959266:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000001.11:212959266:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000001.11:212959266:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000001.11:212959266:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:212959266:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:212959266:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT
        Gene:
        VASH2 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        TGTGTGTGTGTGT=0./0 (ALFA)
        TG=0.3221/1613 (1000Genomes)
        TG=0.4867/292 (NorthernSweden)
        HGVS:
        5.

        rs1491104484 [Homo sapiens]
          Variant type:
          DEL
          Alleles:
          CT>- [Show Flanks]
          Chromosome:
          1:212942510 (GRCh38)
          1:213115852 (GRCh37)
          Canonical SPDI:
          NC_000001.11:212942509:CT:
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          -=0.004131/49 (ALFA)
          -=0.00406/26 (1000Genomes)
          -=0.006198/816 (GnomAD)
          HGVS:
          6.

          rs1491079062 has merged into rs775872523 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            TG>-,TGTG [Show Flanks]
            Chromosome:
            1:212952370 (GRCh38)
            1:213125712 (GRCh37)
            Canonical SPDI:
            NC_000001.11:212952355:TGTGTGTGTGTGTGTG:TGTGTGTGTGTGTG,NC_000001.11:212952355:TGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTG
            Gene:
            VASH2 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            TGTGTGTGTGTGTGTGTG=0./0 (ALFA)
            -=0.000045/12 (TOPMED)
            TG=0.00006/1 (TOMMO)
            HGVS:
            7.

            rs1491004443 has merged into rs111890314 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              AA>-,A,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA [Show Flanks]
              Chromosome:
              1:212970907 (GRCh38)
              1:213144249 (GRCh37)
              Canonical SPDI:
              NC_000001.11:212970898:AAAAAAAAAA:AAAAAAAA,NC_000001.11:212970898:AAAAAAAAAA:AAAAAAAAA,NC_000001.11:212970898:AAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:212970898:AAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:212970898:AAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:212970898:AAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:212970898:AAAAAAAAAA:AAAAAAAAAAAAAAAA
              Gene:
              VASH2 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              AAAAAAAAA=0./0 (ALFA)
              -=0.000008/2 (TOPMED)
              AAAA=0.094432/173 (Korea1K)
              HGVS:
              8.

              rs1490983198 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>A,C [Show Flanks]
                Chromosome:
                1:212973407 (GRCh38)
                1:213146749 (GRCh37)
                Canonical SPDI:
                NC_000001.11:212973406:T:A,NC_000001.11:212973406:T:C
                Gene:
                VASH2 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0./0 (ALFA)
                C=0.000007/1 (GnomAD_exomes)
                HGVS:
                9.

                rs1490981537 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  1:212984085 (GRCh38)
                  1:213157427 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:212984084:A:G
                  Gene:
                  VASH2 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000007/1 (GnomAD)
                  G=0.000035/1 (TOMMO)
                  HGVS:
                  10.

                  rs1490846140 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A,C [Show Flanks]
                    Chromosome:
                    1:212950777 (GRCh38)
                    1:213124119 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:212950776:G:A,NC_000001.11:212950776:G:C
                    Gene:
                    VASH2 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000029/4 (GnomAD)
                    A=0.000045/12 (TOPMED)
                    A=0.000156/1 (1000Genomes)
                    A=0.000319/5 (TOMMO)
                    A=0.000343/1 (KOREAN)
                    G=0.5/1 (SGDP_PRJ)
                    HGVS:
                    11.

                    rs1490793891 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      1:212935953 (GRCh38)
                      1:213109295 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:212935952:G:A
                      Validated:
                      by frequency,by alfa
                      MAF:
                      A=0.000071/1 (ALFA)
                      A=0.000004/1 (TOPMED)
                      HGVS:
                      12.

                      rs1490786768 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>A,T [Show Flanks]
                        Chromosome:
                        1:212984720 (GRCh38)
                        1:213158062 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:212984719:C:A,NC_000001.11:212984719:C:T
                        Gene:
                        VASH2 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        T=0./0 (ALFA)
                        A=0.000004/1 (TOPMED)
                        HGVS:
                        13.

                        rs1490719476 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>T [Show Flanks]
                          Chromosome:
                          1:212952050 (GRCh38)
                          1:213125392 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:212952049:A:T
                          Gene:
                          VASH2 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000004/1 (TOPMED)
                          HGVS:
                          14.

                          rs1490664630 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            1:212976783 (GRCh38)
                            1:213150125 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:212976782:C:T
                            Gene:
                            VASH2 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000004/1 (TOPMED)
                            HGVS:
                            15.

                            rs1490629712 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              1:212936489 (GRCh38)
                              1:213109831 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:212936488:T:C
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000004/1 (TOPMED)
                              C=0.000007/1 (GnomAD)
                              HGVS:
                              16.

                              rs1490614979 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                TCT>- [Show Flanks]
                                Chromosome:
                                1:212965217 (GRCh38)
                                1:213138559 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:212965214:CTTCT:CT
                                Gene:
                                VASH2 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                CT=0.000071/1 (ALFA)
                                -=0.000021/3 (GnomAD)
                                -=0.00003/8 (TOPMED)
                                HGVS:
                                17.

                                rs1490578063 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  1:212937461 (GRCh38)
                                  1:213110803 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:212937460:T:C
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000004/1 (TOPMED)
                                  HGVS:
                                  18.

                                  rs1490564369 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>G [Show Flanks]
                                    Chromosome:
                                    1:212938723 (GRCh38)
                                    1:213112065 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:212938722:T:G
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0.000071/1 (ALFA)
                                    G=0.000004/1 (TOPMED)
                                    HGVS:
                                    19.

                                    rs1490529357 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      1:212953274 (GRCh38)
                                      1:213126616 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:212953273:G:A
                                      Gene:
                                      VASH2 (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:
                                      20.

                                      rs1490492169 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        1:212983172 (GRCh38)
                                        1:213156514 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:212983171:T:C
                                        Gene:
                                        VASH2 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000008/2 (TOPMED)
                                        C=0.000021/3 (GnomAD)
                                        HGVS:

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