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Items: 1 to 20 of 4549

1.

rs1491519762 has merged into rs60387474 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    TTTTTTTTTTTTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
    Chromosome:
    19:7695931 (GRCh38)
    19:7760817 (GRCh37)
    Canonical SPDI:
    NC_000019.10:7695920:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000019.10:7695920:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000019.10:7695920:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:7695920:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:7695920:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:7695920:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:7695920:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:7695920:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:7695920:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:7695920:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:7695920:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:7695920:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:7695920:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:7695920:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:7695920:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:7695920:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:7695920:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:7695920:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:7695920:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:7695920:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:7695920:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:7695920:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
    Gene:
    FCER2 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TTTTTTTTTTT=0./0 (ALFA)
    HGVS:
    NC_000019.10:g.7695931_7695944del, NC_000019.10:g.7695932_7695944del, NC_000019.10:g.7695933_7695944del, NC_000019.10:g.7695934_7695944del, NC_000019.10:g.7695936_7695944del, NC_000019.10:g.7695937_7695944del, NC_000019.10:g.7695938_7695944del, NC_000019.10:g.7695939_7695944del, NC_000019.10:g.7695940_7695944del, NC_000019.10:g.7695941_7695944del, NC_000019.10:g.7695942_7695944del, NC_000019.10:g.7695943_7695944del, NC_000019.10:g.7695944del, NC_000019.10:g.7695944dup, NC_000019.10:g.7695943_7695944dup, NC_000019.10:g.7695942_7695944dup, NC_000019.10:g.7695941_7695944dup, NC_000019.10:g.7695940_7695944dup, NC_000019.10:g.7695939_7695944dup, NC_000019.10:g.7695937_7695944dup, NC_000019.10:g.7695936_7695944dup, NC_000019.10:g.7695933_7695944dup, NC_000019.9:g.7760817_7760830del, NC_000019.9:g.7760818_7760830del, NC_000019.9:g.7760819_7760830del, NC_000019.9:g.7760820_7760830del, NC_000019.9:g.7760822_7760830del, NC_000019.9:g.7760823_7760830del, NC_000019.9:g.7760824_7760830del, NC_000019.9:g.7760825_7760830del, NC_000019.9:g.7760826_7760830del, NC_000019.9:g.7760827_7760830del, NC_000019.9:g.7760828_7760830del, NC_000019.9:g.7760829_7760830del, NC_000019.9:g.7760830del, NC_000019.9:g.7760830dup, NC_000019.9:g.7760829_7760830dup, NC_000019.9:g.7760828_7760830dup, NC_000019.9:g.7760827_7760830dup, NC_000019.9:g.7760826_7760830dup, NC_000019.9:g.7760825_7760830dup, NC_000019.9:g.7760823_7760830dup, NC_000019.9:g.7760822_7760830dup, NC_000019.9:g.7760819_7760830dup, NG_029554.1:g.11213_11226del, NG_029554.1:g.11214_11226del, NG_029554.1:g.11215_11226del, NG_029554.1:g.11216_11226del, NG_029554.1:g.11218_11226del, NG_029554.1:g.11219_11226del, NG_029554.1:g.11220_11226del, NG_029554.1:g.11221_11226del, NG_029554.1:g.11222_11226del, NG_029554.1:g.11223_11226del, NG_029554.1:g.11224_11226del, NG_029554.1:g.11225_11226del, NG_029554.1:g.11226del, NG_029554.1:g.11226dup, NG_029554.1:g.11225_11226dup, NG_029554.1:g.11224_11226dup, NG_029554.1:g.11223_11226dup, NG_029554.1:g.11222_11226dup, NG_029554.1:g.11221_11226dup, NG_029554.1:g.11219_11226dup, NG_029554.1:g.11218_11226dup, NG_029554.1:g.11215_11226dup
    2.

    rs1491406926 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      ->A,AA,AAA [Show Flanks]
      Chromosome:
      19:7703306 (GRCh38)
      19:7768193 (GRCh37)
      Canonical SPDI:
      NC_000019.10:7703306:A:AA,NC_000019.10:7703306:A:AAA,NC_000019.10:7703306:A:AAAA
      Gene:
      FCER2 (Varview), LOC105372262 (Varview)
      Functional Consequence:
      2KB_upstream_variant,upstream_transcript_variant,intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      AA=0.00018/3 (ALFA)
      A=0.00038/6 (TOMMO)
      HGVS:
      3.

      rs1491110182 [Homo sapiens]
        Variant type:
        SNV:
        Alleles:
        ->G
        Chromosome:
        no mapping
        Canonical SPDI:
        4.

        rs1490900161 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>G,T [Show Flanks]
          Chromosome:
          19:7699596 (GRCh38)
          19:7764482 (GRCh37)
          Canonical SPDI:
          NC_000019.10:7699595:C:G,NC_000019.10:7699595:C:T
          Gene:
          FCER2 (Varview)
          Functional Consequence:
          upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          T=0.000021/3 (GnomAD)
          HGVS:
          5.

          rs1490533002 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            19:7698503 (GRCh38)
            19:7763389 (GRCh37)
            Canonical SPDI:
            NC_000019.10:7698502:G:A
            Gene:
            FCER2 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0./0 (ALFA)
            A=0.000007/1 (GnomAD)
            HGVS:
            6.

            rs1490338897 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              19:7694264 (GRCh38)
              19:7759150 (GRCh37)
              Canonical SPDI:
              NC_000019.10:7694263:C:T
              Gene:
              FCER2 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0.000011/3 (TOPMED)
              T=0.000014/2 (GnomAD)
              HGVS:
              7.

              rs1490097376 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                19:7701190 (GRCh38)
                19:7766076 (GRCh37)
                Canonical SPDI:
                NC_000019.10:7701189:A:G
                Gene:
                FCER2 (Varview)
                Functional Consequence:
                upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                G=0./0 (ALFA)
                G=0.000007/1 (GnomAD)
                HGVS:
                8.

                rs1490072914 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>C [Show Flanks]
                  Chromosome:
                  19:7698446 (GRCh38)
                  19:7763332 (GRCh37)
                  Canonical SPDI:
                  NC_000019.10:7698445:A:C
                  Gene:
                  FCER2 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000004/1 (TOPMED)
                  C=0.000009/2 (GnomAD_exomes)
                  HGVS:
                  9.

                  rs1489962069 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    19:7701257 (GRCh38)
                    19:7766143 (GRCh37)
                    Canonical SPDI:
                    NC_000019.10:7701256:G:A
                    Gene:
                    FCER2 (Varview)
                    Functional Consequence:
                    upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000008/2 (TOPMED)
                    HGVS:
                    10.

                    rs1489910914 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      19:7700423 (GRCh38)
                      19:7765309 (GRCh37)
                      Canonical SPDI:
                      NC_000019.10:7700422:A:G
                      Gene:
                      FCER2 (Varview)
                      Functional Consequence:
                      upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000011/3 (TOPMED)
                      G=0.000021/3 (GnomAD)
                      HGVS:
                      11.

                      rs1489910219 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        19:7698889 (GRCh38)
                        19:7763775 (GRCh37)
                        Canonical SPDI:
                        NC_000019.10:7698888:G:A
                        Gene:
                        FCER2 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000007/1 (GnomAD)
                        A=0.000013/2 (GnomAD_exomes)
                        HGVS:
                        12.

                        rs1489760197 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>G [Show Flanks]
                          Chromosome:
                          19:7689149 (GRCh38)
                          19:7754035 (GRCh37)
                          Canonical SPDI:
                          NC_000019.10:7689148:T:G
                          Gene:
                          FCER2 (Varview)
                          Functional Consequence:
                          3_prime_UTR_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000004/1 (TOPMED)
                          G=0.000007/1 (GnomAD)
                          HGVS:
                          13.

                          rs1489741886 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>A [Show Flanks]
                            Chromosome:
                            19:7701413 (GRCh38)
                            19:7766299 (GRCh37)
                            Canonical SPDI:
                            NC_000019.10:7701412:C:A
                            Gene:
                            FCER2 (Varview)
                            Functional Consequence:
                            upstream_transcript_variant,intron_variant,genic_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:
                            14.

                            rs1489519818 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              19:7704389 (GRCh38)
                              19:7769275 (GRCh37)
                              Canonical SPDI:
                              NC_000019.10:7704388:C:T
                              Gene:
                              LOC105372262 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000007/1 (GnomAD)
                              T=0.000011/3 (TOPMED)
                              HGVS:
                              15.

                              rs1489470488 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A,C,T [Show Flanks]
                                Chromosome:
                                19:7699330 (GRCh38)
                                19:7764216 (GRCh37)
                                Canonical SPDI:
                                NC_000019.10:7699329:G:A,NC_000019.10:7699329:G:C,NC_000019.10:7699329:G:T
                                Gene:
                                FCER2 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                A=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1489339136 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>T [Show Flanks]
                                  Chromosome:
                                  19:7704727 (GRCh38)
                                  19:7769613 (GRCh37)
                                  Canonical SPDI:
                                  NC_000019.10:7704726:G:T
                                  Gene:
                                  LOC105372262 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000007/1 (GnomAD)
                                  T=0.000008/2 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1488838469 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A,C [Show Flanks]
                                    Chromosome:
                                    19:7694796 (GRCh38)
                                    19:7759682 (GRCh37)
                                    Canonical SPDI:
                                    NC_000019.10:7694795:G:A,NC_000019.10:7694795:G:C
                                    Gene:
                                    FCER2 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000011/3 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1488806537 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      19:7703696 (GRCh38)
                                      19:7768582 (GRCh37)
                                      Canonical SPDI:
                                      NC_000019.10:7703695:C:T
                                      Gene:
                                      FCER2 (Varview), LOC105372262 (Varview)
                                      Functional Consequence:
                                      2KB_upstream_variant,upstream_transcript_variant,intron_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      T=0.000007/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1488511922 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>G [Show Flanks]
                                        Chromosome:
                                        19:7698410 (GRCh38)
                                        19:7763296 (GRCh37)
                                        Canonical SPDI:
                                        NC_000019.10:7698409:C:G
                                        Gene:
                                        FCER2 (Varview)
                                        Functional Consequence:
                                        splice_acceptor_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        G=0.000008/2 (GnomAD_exomes)
                                        HGVS:
                                        20.

                                        rs1488236239 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>A [Show Flanks]
                                          Chromosome:
                                          19:7690344 (GRCh38)
                                          19:7755230 (GRCh37)
                                          Canonical SPDI:
                                          NC_000019.10:7690343:T:A
                                          Gene:
                                          FCER2 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0.000224/1 (ALFA)
                                          A=0.000008/1 (GnomAD)
                                          A=0.000224/1 (Estonian)
                                          HGVS:

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