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Items: 1 to 20 of 5386

1.

rs1491547663 has merged into rs57367417 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    CACACACACA>-,CA,CACA,CACACA,CACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA [Show Flanks]
    Chromosome:
    11:1732028 (GRCh38)
    11:1753258 (GRCh37)
    Canonical SPDI:
    NC_000011.10:1732013:CACACACACACACACACACACACA:CACACACACACACA,NC_000011.10:1732013:CACACACACACACACACACACACA:CACACACACACACACA,NC_000011.10:1732013:CACACACACACACACACACACACA:CACACACACACACACACA,NC_000011.10:1732013:CACACACACACACACACACACACA:CACACACACACACACACACA,NC_000011.10:1732013:CACACACACACACACACACACACA:CACACACACACACACACACACA,NC_000011.10:1732013:CACACACACACACACACACACACA:CACACACACACACACACACACACACA,NC_000011.10:1732013:CACACACACACACACACACACACA:CACACACACACACACACACACACACACA,NC_000011.10:1732013:CACACACACACACACACACACACA:CACACACACACACACACACACACACACACA,NC_000011.10:1732013:CACACACACACACACACACACACA:CACACACACACACACACACACACACACACACA,NC_000011.10:1732013:CACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACA
    Gene:
    IFITM10 (Varview)
    Functional Consequence:
    downstream_transcript_variant,500B_downstream_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    CACACACACACACACA=0./0 (ALFA)
    CA=0.25/1252 (1000Genomes)
    HGVS:
    NC_000011.10:g.1732014CA[7], NC_000011.10:g.1732014CA[8], NC_000011.10:g.1732014CA[9], NC_000011.10:g.1732014CA[10], NC_000011.10:g.1732014CA[11], NC_000011.10:g.1732014CA[13], NC_000011.10:g.1732014CA[14], NC_000011.10:g.1732014CA[15], NC_000011.10:g.1732014CA[16], NC_000011.10:g.1732014CA[17], NC_000011.9:g.1753244CA[7], NC_000011.9:g.1753244CA[8], NC_000011.9:g.1753244CA[9], NC_000011.9:g.1753244CA[10], NC_000011.9:g.1753244CA[11], NC_000011.9:g.1753244CA[13], NC_000011.9:g.1753244CA[14], NC_000011.9:g.1753244CA[15], NC_000011.9:g.1753244CA[16], NC_000011.9:g.1753244CA[17], NT_187657.1:g.205760CA[7], NT_187657.1:g.205760CA[8], NT_187657.1:g.205760CA[9], NT_187657.1:g.205760CA[10], NT_187657.1:g.205760CA[11], NT_187657.1:g.205760CA[13], NT_187657.1:g.205760CA[14], NT_187657.1:g.205760CA[15], NT_187657.1:g.205760CA[16], NT_187657.1:g.205760CA[17]
    2.

    rs1491544365 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      AC>- [Show Flanks]
      Chromosome:
      11:1745953 (GRCh38)
      11:1767183 (GRCh37)
      Canonical SPDI:
      NC_000011.10:1745952:AC:
      Gene:
      IFITM10 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      -=0.000071/1 (ALFA)
      -=0.000004/1 (TOPMED)
      -=0.000007/1 (GnomAD)
      HGVS:
      3.

      rs1491253293 [Homo sapiens]
        Variant type:
        SNV:
        Alleles:
        ->TGTG
        Chromosome:
        no mapping
        Canonical SPDI:
        4.

        rs1491202724 has merged into rs146312647 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          G>-,GG,GGG,GGGG,GGGGG,GGGGGG [Show Flanks]
          Chromosome:
          11:1744640 (GRCh38)
          11:1765870 (GRCh37)
          Canonical SPDI:
          NC_000011.10:1744639:GGGGGGGG:GGGGGGG,NC_000011.10:1744639:GGGGGGGG:GGGGGGGGG,NC_000011.10:1744639:GGGGGGGG:GGGGGGGGGG,NC_000011.10:1744639:GGGGGGGG:GGGGGGGGGGG,NC_000011.10:1744639:GGGGGGGG:GGGGGGGGGGGG,NC_000011.10:1744639:GGGGGGGG:GGGGGGGGGGGGG
          Gene:
          IFITM10 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          GGGGGGGGGGGG=0./0 (ALFA)
          -=0.000546/1 (Korea1K)
          -=0.060092/287 (1000Genomes)
          -=0.122574/32444 (TOPMED)
          -=0.157971/654 (Estonian)
          HGVS:
          5.

          rs1491183048 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            ->AC [Show Flanks]
            Chromosome:
            11:1745923 (GRCh38)
            11:1767154 (GRCh37)
            Canonical SPDI:
            NC_000011.10:1745923:C:CAC
            Gene:
            IFITM10 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            CAC=0./0 (ALFA)
            HGVS:
            6.

            rs1491042943 has merged into rs3047256 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              CACA>-,CA,CACACA [Show Flanks]
              Chromosome:
              11:1746273 (GRCh38)
              11:1767503 (GRCh37)
              Canonical SPDI:
              NC_000011.10:1746269:ACACACA:ACA,NC_000011.10:1746269:ACACACA:ACACA,NC_000011.10:1746269:ACACACA:ACACACACA
              Gene:
              IFITM10 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              ACACA=0./0 (ALFA)
              AC=0.207547/44 (Vietnamese)
              AC=0.266667/160 (NorthernSweden)
              AC=0.289847/531 (Korea1K)
              AC=0.322816/1197 (TWINSUK)
              AC=0.330661/330 (GoNL)
              AC=0.332641/1282 (ALSPAC)
              AC=0.34323/9699 (TOMMO)
              AC=0.400016/55899 (GnomAD)
              AC=0.426452/2136 (1000Genomes)
              HGVS:
              7.

              rs1490759236 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                11:1750026 (GRCh38)
                11:1771256 (GRCh37)
                Canonical SPDI:
                NC_000011.10:1750025:T:C
                Gene:
                IFITM10 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                C=0./0 (ALFA)
                C=0.000007/1 (GnomAD)
                HGVS:
                8.

                rs1490753947 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  11:1749900 (GRCh38)
                  11:1771130 (GRCh37)
                  Canonical SPDI:
                  NC_000011.10:1749899:C:T
                  Gene:
                  IFITM10 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  T=0.000094/1 (ALFA)
                  T=0.000007/1 (GnomAD)
                  HGVS:
                  9.

                  rs1490745032 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    11:1744392 (GRCh38)
                    11:1765622 (GRCh37)
                    Canonical SPDI:
                    NC_000011.10:1744391:C:T
                    Gene:
                    IFITM10 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000014/2 (GnomAD)
                    T=0.000019/5 (TOPMED)
                    HGVS:
                    10.

                    rs1490596318 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      11:1749287 (GRCh38)
                      11:1770517 (GRCh37)
                      Canonical SPDI:
                      NC_000011.10:1749286:G:A
                      Gene:
                      IFITM10 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0.000071/1 (ALFA)
                      A=0.000004/1 (TOPMED)
                      A=0.000007/1 (GnomAD)
                      HGVS:
                      11.

                      rs1490381452 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        11:1736651 (GRCh38)
                        11:1757881 (GRCh37)
                        Canonical SPDI:
                        NC_000011.10:1736650:G:A
                        Gene:
                        IFITM10 (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:
                        12.

                        rs1489918358 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>G,T [Show Flanks]
                          Chromosome:
                          11:1749419 (GRCh38)
                          11:1770649 (GRCh37)
                          Canonical SPDI:
                          NC_000011.10:1749418:C:G,NC_000011.10:1749418:C:T
                          Gene:
                          IFITM10 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          HGVS:
                          13.

                          rs1489733879 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            GAGG>- [Show Flanks]
                            Chromosome:
                            11:1743354 (GRCh38)
                            11:1764584 (GRCh37)
                            Canonical SPDI:
                            NC_000011.10:1743352:GGAGG:G
                            Gene:
                            IFITM10 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            G=0./0 (ALFA)
                            -=0.000008/1 (GnomAD)
                            HGVS:
                            14.

                            rs1489619440 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              11:1744498 (GRCh38)
                              11:1765728 (GRCh37)
                              Canonical SPDI:
                              NC_000011.10:1744497:G:A
                              Gene:
                              IFITM10 (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:
                              15.

                              rs1489480253 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                11:1746059 (GRCh38)
                                11:1767289 (GRCh37)
                                Canonical SPDI:
                                NC_000011.10:1746058:C:T
                                Gene:
                                IFITM10 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000015/2 (GnomAD)
                                T=0.000019/5 (TOPMED)
                                HGVS:
                                16.

                                rs1489450003 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  11:1747614 (GRCh38)
                                  11:1768844 (GRCh37)
                                  Canonical SPDI:
                                  NC_000011.10:1747613:G:A
                                  Gene:
                                  IFITM10 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000015/4 (TOPMED)
                                  A=0.000029/4 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1489398149 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    11:1751886 (GRCh38)
                                    11:1773116 (GRCh37)
                                    Canonical SPDI:
                                    NC_000011.10:1751885:C:T
                                    Gene:
                                    IFITM10 (Varview)
                                    Functional Consequence:
                                    2KB_upstream_variant,upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000004/1 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1489350848 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>G [Show Flanks]
                                      Chromosome:
                                      11:1748393 (GRCh38)
                                      11:1769623 (GRCh37)
                                      Canonical SPDI:
                                      NC_000011.10:1748392:C:G
                                      Gene:
                                      IFITM10 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000007/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1489309307 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        11:1743948 (GRCh38)
                                        11:1765178 (GRCh37)
                                        Canonical SPDI:
                                        NC_000011.10:1743947:T:C
                                        Gene:
                                        IFITM10 (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:
                                        20.

                                        rs1489218939 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          11:1743254 (GRCh38)
                                          11:1764484 (GRCh37)
                                          Canonical SPDI:
                                          NC_000011.10:1743253:G:A
                                          Gene:
                                          IFITM10 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000049/13 (TOPMED)
                                          HGVS:

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