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Items: 1 to 20 of 1622

1.

rs1491574342 has merged into rs34031962 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    TTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT [Show Flanks]
    Chromosome:
    11:46176338 (GRCh38)
    11:46197889 (GRCh37)
    Canonical SPDI:
    NC_000011.10:46176327:TTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000011.10:46176327:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000011.10:46176327:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000011.10:46176327:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000011.10:46176327:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000011.10:46176327:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000011.10:46176327:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000011.10:46176327:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000011.10:46176327:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000011.10:46176327:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000011.10:46176327:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:46176327:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
    Gene:
    LOC101928894 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TTTTTTTTTTTT=0./0 (ALFA)
    HGVS:
    NC_000011.10:g.46176338_46176344del, NC_000011.10:g.46176340_46176344del, NC_000011.10:g.46176341_46176344del, NC_000011.10:g.46176342_46176344del, NC_000011.10:g.46176343_46176344del, NC_000011.10:g.46176344del, NC_000011.10:g.46176344dup, NC_000011.10:g.46176343_46176344dup, NC_000011.10:g.46176342_46176344dup, NC_000011.10:g.46176341_46176344dup, NC_000011.10:g.46176334_46176344dup, NC_000011.10:g.46176331_46176344dup, NC_000011.9:g.46197889_46197895del, NC_000011.9:g.46197891_46197895del, NC_000011.9:g.46197892_46197895del, NC_000011.9:g.46197893_46197895del, NC_000011.9:g.46197894_46197895del, NC_000011.9:g.46197895del, NC_000011.9:g.46197895dup, NC_000011.9:g.46197894_46197895dup, NC_000011.9:g.46197893_46197895dup, NC_000011.9:g.46197892_46197895dup, NC_000011.9:g.46197885_46197895dup, NC_000011.9:g.46197882_46197895dup
    2.

    rs1491563031 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      AA>- [Show Flanks]
      Chromosome:
      11:46173144 (GRCh38)
      11:46194695 (GRCh37)
      Canonical SPDI:
      NC_000011.10:46173142:AAA:A
      Gene:
      LOC101928894 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      A=0./0 (ALFA)
      HGVS:
      3.

      rs1491549768 has merged into rs1491004821 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        AA>-,AAAA [Show Flanks]
        Chromosome:
        11:46173186 (GRCh38)
        11:46194737 (GRCh37)
        Canonical SPDI:
        NC_000011.10:46173184:AAA:A,NC_000011.10:46173184:AAA:AAAAA
        Gene:
        LOC101928894 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0.000369/6 (ALFA)
        -=0.00375/481 (GnomAD)
        -=0.042294/163 (ALSPAC)
        -=0.0774/287 (TWINSUK)
        HGVS:
        4.

        rs1491492395 [Homo sapiens]
          Variant type:
          INS
          Alleles:
          ->C [Show Flanks]
          Chromosome:
          11:46173143 (GRCh38)
          11:46194695 (GRCh37)
          Canonical SPDI:
          NC_000011.10:46173143::C
          Gene:
          LOC101928894 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency
          MAF:
          C=0.00003/3 (GnomAD)
          HGVS:
          5.

          rs1491122034 has merged into rs34031962 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            TTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT [Show Flanks]
            Chromosome:
            11:46176338 (GRCh38)
            11:46197889 (GRCh37)
            Canonical SPDI:
            NC_000011.10:46176327:TTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000011.10:46176327:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000011.10:46176327:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000011.10:46176327:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000011.10:46176327:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000011.10:46176327:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000011.10:46176327:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000011.10:46176327:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000011.10:46176327:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000011.10:46176327:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000011.10:46176327:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:46176327:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
            Gene:
            LOC101928894 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            TTTTTTTTTTTT=0./0 (ALFA)
            HGVS:
            NC_000011.10:g.46176338_46176344del, NC_000011.10:g.46176340_46176344del, NC_000011.10:g.46176341_46176344del, NC_000011.10:g.46176342_46176344del, NC_000011.10:g.46176343_46176344del, NC_000011.10:g.46176344del, NC_000011.10:g.46176344dup, NC_000011.10:g.46176343_46176344dup, NC_000011.10:g.46176342_46176344dup, NC_000011.10:g.46176341_46176344dup, NC_000011.10:g.46176334_46176344dup, NC_000011.10:g.46176331_46176344dup, NC_000011.9:g.46197889_46197895del, NC_000011.9:g.46197891_46197895del, NC_000011.9:g.46197892_46197895del, NC_000011.9:g.46197893_46197895del, NC_000011.9:g.46197894_46197895del, NC_000011.9:g.46197895del, NC_000011.9:g.46197895dup, NC_000011.9:g.46197894_46197895dup, NC_000011.9:g.46197893_46197895dup, NC_000011.9:g.46197892_46197895dup, NC_000011.9:g.46197885_46197895dup, NC_000011.9:g.46197882_46197895dup
            6.

            rs1491004821 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              AA>-,AAAA [Show Flanks]
              Chromosome:
              11:46173186 (GRCh38)
              11:46194737 (GRCh37)
              Canonical SPDI:
              NC_000011.10:46173184:AAA:A,NC_000011.10:46173184:AAA:AAAAA
              Gene:
              LOC101928894 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0.000369/6 (ALFA)
              -=0.00375/481 (GnomAD)
              -=0.042294/163 (ALSPAC)
              -=0.0774/287 (TWINSUK)
              HGVS:
              7.

              rs1490767933 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                11:46174379 (GRCh38)
                11:46195930 (GRCh37)
                Canonical SPDI:
                NC_000011.10:46174378:C:T
                Gene:
                LOC101928894 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                T=0.000008/2 (TOPMED)
                T=0.000021/3 (GnomAD)
                HGVS:
                8.

                rs1489903623 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>T [Show Flanks]
                  Chromosome:
                  11:46169963 (GRCh38)
                  11:46191514 (GRCh37)
                  Canonical SPDI:
                  NC_000011.10:46169962:A:T
                  Gene:
                  LOC101928894 (Varview)
                  Functional Consequence:
                  2KB_upstream_variant,upstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000014/2 (GnomAD)
                  T=0.000019/5 (TOPMED)
                  HGVS:
                  9.

                  rs1489223063 has merged into rs139991688 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    TTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTTT [Show Flanks]
                    Chromosome:
                    11:46170562 (GRCh38)
                    11:46192113 (GRCh37)
                    Canonical SPDI:
                    NC_000011.10:46170550:TTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000011.10:46170550:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000011.10:46170550:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000011.10:46170550:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000011.10:46170550:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000011.10:46170550:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000011.10:46170550:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT
                    Gene:
                    LOC101928894 (Varview)
                    Functional Consequence:
                    upstream_transcript_variant,2KB_upstream_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    TTTTTTTTTTTTTT=0./0 (ALFA)
                    TT=0.0679/340 (1000Genomes)
                    HGVS:
                    10.

                    rs1489021024 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      11:46175788 (GRCh38)
                      11:46197339 (GRCh37)
                      Canonical SPDI:
                      NC_000011.10:46175787:T:C
                      Gene:
                      LOC101928894 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000007/1 (GnomAD)
                      HGVS:
                      11.

                      rs1488272772 [Homo sapiens]
                        Variant type:
                        DEL
                        Alleles:
                        CT>- [Show Flanks]
                        Chromosome:
                        11:46172119 (GRCh38)
                        11:46193670 (GRCh37)
                        Canonical SPDI:
                        NC_000011.10:46172118:CT:
                        Gene:
                        LOC101928894 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        -=0./0 (ALFA)
                        -=0.000004/1 (TOPMED)
                        -=0.000007/1 (GnomAD)
                        HGVS:
                        12.

                        rs1487408123 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          11:46177179 (GRCh38)
                          11:46198730 (GRCh37)
                          Canonical SPDI:
                          NC_000011.10:46177178:C:T
                          Gene:
                          LOC101928894 (Varview)
                          Functional Consequence:
                          downstream_transcript_variant,500B_downstream_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000008/2 (TOPMED)
                          T=0.000014/2 (GnomAD)
                          HGVS:
                          13.

                          rs1487288874 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            11:46172678 (GRCh38)
                            11:46194229 (GRCh37)
                            Canonical SPDI:
                            NC_000011.10:46172677:G:A
                            Gene:
                            LOC101928894 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000008/2 (TOPMED)
                            HGVS:
                            14.

                            rs1487288374 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              11:46174113 (GRCh38)
                              11:46195664 (GRCh37)
                              Canonical SPDI:
                              NC_000011.10:46174112:T:C
                              Gene:
                              LOC101928894 (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:
                              15.

                              rs1486891238 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>C [Show Flanks]
                                Chromosome:
                                11:46170758 (GRCh38)
                                11:46192309 (GRCh37)
                                Canonical SPDI:
                                NC_000011.10:46170757:A:C
                                Gene:
                                LOC101928894 (Varview)
                                Functional Consequence:
                                2KB_upstream_variant,upstream_transcript_variant
                                HGVS:
                                16.

                                rs1486248840 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>T [Show Flanks]
                                  Chromosome:
                                  11:46172001 (GRCh38)
                                  11:46193552 (GRCh37)
                                  Canonical SPDI:
                                  NC_000011.10:46172000:A:T
                                  Gene:
                                  LOC101928894 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000004/1 (TOPMED)
                                  T=0.000007/1 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1485493211 [Homo sapiens]
                                    Variant type:
                                    SNV:
                                    Alleles:
                                    AG>-
                                    Chromosome:
                                    no mapping
                                    Canonical SPDI:
                                    18.

                                    rs1484721045 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      11:46170429 (GRCh38)
                                      11:46191980 (GRCh37)
                                      Canonical SPDI:
                                      NC_000011.10:46170428:T:C
                                      Gene:
                                      LOC101928894 (Varview)
                                      Functional Consequence:
                                      2KB_upstream_variant,upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000004/1 (TOPMED)
                                      C=0.000007/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1483882032 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>G [Show Flanks]
                                        Chromosome:
                                        11:46177315 (GRCh38)
                                        11:46198866 (GRCh37)
                                        Canonical SPDI:
                                        NC_000011.10:46177314:C:G
                                        Gene:
                                        LOC101928894 (Varview)
                                        Functional Consequence:
                                        downstream_transcript_variant,500B_downstream_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000004/1 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1481928478 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          11:46172509 (GRCh38)
                                          11:46194060 (GRCh37)
                                          Canonical SPDI:
                                          NC_000011.10:46172508:A:G
                                          Gene:
                                          LOC101928894 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000011/3 (TOPMED)
                                          G=0.000029/4 (GnomAD)
                                          HGVS:

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