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Items: 1 to 20 of 3835

1.

rs1491089183 has merged into rs35764500 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    TTTTTTTT>-,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT [Show Flanks]
    Chromosome:
    11:60067223 (GRCh38)
    11:59834696 (GRCh37)
    Canonical SPDI:
    NC_000011.10:60067212:TTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000011.10:60067212:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000011.10:60067212:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000011.10:60067212:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000011.10:60067212:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000011.10:60067212:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000011.10:60067212:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000011.10:60067212:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000011.10:60067212:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:60067212:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:60067212:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:60067212:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:60067212:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:60067212:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
    Gene:
    MS4A3 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TTTTTTTTTTTTTT=0./0 (ALFA)
    -=0.000004/1 (TOPMED)
    HGVS:
    NC_000011.10:g.60067223_60067230del, NC_000011.10:g.60067227_60067230del, NC_000011.10:g.60067228_60067230del, NC_000011.10:g.60067229_60067230del, NC_000011.10:g.60067230del, NC_000011.10:g.60067230dup, NC_000011.10:g.60067229_60067230dup, NC_000011.10:g.60067228_60067230dup, NC_000011.10:g.60067227_60067230dup, NC_000011.10:g.60067226_60067230dup, NC_000011.10:g.60067225_60067230dup, NC_000011.10:g.60067224_60067230dup, NC_000011.10:g.60067223_60067230dup, NC_000011.10:g.60067222_60067230dup, NC_000011.9:g.59834696_59834703del, NC_000011.9:g.59834700_59834703del, NC_000011.9:g.59834701_59834703del, NC_000011.9:g.59834702_59834703del, NC_000011.9:g.59834703del, NC_000011.9:g.59834703dup, NC_000011.9:g.59834702_59834703dup, NC_000011.9:g.59834701_59834703dup, NC_000011.9:g.59834700_59834703dup, NC_000011.9:g.59834699_59834703dup, NC_000011.9:g.59834698_59834703dup, NC_000011.9:g.59834697_59834703dup, NC_000011.9:g.59834696_59834703dup, NC_000011.9:g.59834695_59834703dup, NW_019805498.1:g.161104_161111del, NW_019805498.1:g.161108_161111del, NW_019805498.1:g.161109_161111del, NW_019805498.1:g.161110_161111del, NW_019805498.1:g.161111del, NW_019805498.1:g.161111dup, NW_019805498.1:g.161110_161111dup, NW_019805498.1:g.161109_161111dup, NW_019805498.1:g.161108_161111dup, NW_019805498.1:g.161107_161111dup, NW_019805498.1:g.161106_161111dup, NW_019805498.1:g.161105_161111dup, NW_019805498.1:g.161104_161111dup, NW_019805498.1:g.161103_161111dup
    2.

    rs1491077846 has merged into rs71456407 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      TTTTTTTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT [Show Flanks]
      Chromosome:
      11:60068249 (GRCh38)
      11:59835722 (GRCh37)
      Canonical SPDI:
      NC_000011.10:60068238:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000011.10:60068238:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000011.10:60068238:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000011.10:60068238:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000011.10:60068238:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000011.10:60068238:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000011.10:60068238:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000011.10:60068238:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000011.10:60068238:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000011.10:60068238:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000011.10:60068238:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:60068238:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:60068238:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:60068238:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:60068238:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:60068238:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT
      Gene:
      MS4A3 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      TTTTTTTTTTTT=0./0 (ALFA)
      -=0.45/18 (GENOME_DK)
      HGVS:
      NC_000011.10:g.60068249_60068257del, NC_000011.10:g.60068250_60068257del, NC_000011.10:g.60068251_60068257del, NC_000011.10:g.60068252_60068257del, NC_000011.10:g.60068254_60068257del, NC_000011.10:g.60068255_60068257del, NC_000011.10:g.60068256_60068257del, NC_000011.10:g.60068257del, NC_000011.10:g.60068257dup, NC_000011.10:g.60068256_60068257dup, NC_000011.10:g.60068255_60068257dup, NC_000011.10:g.60068254_60068257dup, NC_000011.10:g.60068253_60068257dup, NC_000011.10:g.60068252_60068257dup, NC_000011.10:g.60068251_60068257dup, NC_000011.10:g.60068249_60068257dup, NC_000011.9:g.59835722_59835730del, NC_000011.9:g.59835723_59835730del, NC_000011.9:g.59835724_59835730del, NC_000011.9:g.59835725_59835730del, NC_000011.9:g.59835727_59835730del, NC_000011.9:g.59835728_59835730del, NC_000011.9:g.59835729_59835730del, NC_000011.9:g.59835730del, NC_000011.9:g.59835730dup, NC_000011.9:g.59835729_59835730dup, NC_000011.9:g.59835728_59835730dup, NC_000011.9:g.59835727_59835730dup, NC_000011.9:g.59835726_59835730dup, NC_000011.9:g.59835725_59835730dup, NC_000011.9:g.59835724_59835730dup, NC_000011.9:g.59835722_59835730dup, NW_019805498.1:g.162130_162138del, NW_019805498.1:g.162131_162138del, NW_019805498.1:g.162132_162138del, NW_019805498.1:g.162133_162138del, NW_019805498.1:g.162135_162138del, NW_019805498.1:g.162136_162138del, NW_019805498.1:g.162137_162138del, NW_019805498.1:g.162138del, NW_019805498.1:g.162138dup, NW_019805498.1:g.162137_162138dup, NW_019805498.1:g.162136_162138dup, NW_019805498.1:g.162135_162138dup, NW_019805498.1:g.162134_162138dup, NW_019805498.1:g.162133_162138dup, NW_019805498.1:g.162132_162138dup, NW_019805498.1:g.162130_162138dup
      3.

      rs1490942071 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        11:60068162 (GRCh38)
        11:59835635 (GRCh37)
        Canonical SPDI:
        NC_000011.10:60068161:T:C
        Gene:
        MS4A3 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        C=0./0 (ALFA)
        HGVS:
        4.

        rs1490709586 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>C [Show Flanks]
          Chromosome:
          11:60061349 (GRCh38)
          11:59828822 (GRCh37)
          Canonical SPDI:
          NC_000011.10:60061348:G:C
          Gene:
          MS4A3 (Varview)
          Functional Consequence:
          genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          C=0./0 (ALFA)
          C=0.000004/1 (TOPMED)
          HGVS:
          5.

          rs1490683647 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            CT>- [Show Flanks]
            Chromosome:
            11:60061434 (GRCh38)
            11:59828907 (GRCh37)
            Canonical SPDI:
            NC_000011.10:60061431:CTCT:CT
            Gene:
            MS4A3 (Varview)
            Functional Consequence:
            genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            CTCT=0.000071/1 (ALFA)
            -=0.000008/2 (TOPMED)
            HGVS:
            6.

            rs1490644480 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              11:60064556 (GRCh38)
              11:59832029 (GRCh37)
              Canonical SPDI:
              NC_000011.10:60064555:T:C
              Gene:
              MS4A3 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0.000324/6 (ALFA)
              C=0.000019/5 (TOPMED)
              C=0.000071/10 (GnomAD)
              C=0.001339/6 (Estonian)
              HGVS:
              7.

              rs1490491427 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                11:60054741 (GRCh38)
                11:59822214 (GRCh37)
                Canonical SPDI:
                NC_000011.10:60054740:A:G
                Gene:
                MS4A3 (Varview)
                Functional Consequence:
                2KB_upstream_variant,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:
                8.

                rs1490147175 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  11:60063216 (GRCh38)
                  11:59830689 (GRCh37)
                  Canonical SPDI:
                  NC_000011.10:60063215:A:G
                  Gene:
                  MS4A3 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000004/1 (TOPMED)
                  HGVS:
                  9.

                  rs1490122837 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    ->G [Show Flanks]
                    Chromosome:
                    11:60067813 (GRCh38)
                    11:59835287 (GRCh37)
                    Canonical SPDI:
                    NC_000011.10:60067813:G:GG
                    Gene:
                    MS4A3 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    GG=0./0 (ALFA)
                    G=0.000004/1 (TOPMED)
                    HGVS:
                    10.

                    rs1489877381 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      11:60059533 (GRCh38)
                      11:59827006 (GRCh37)
                      Canonical SPDI:
                      NC_000011.10:60059532:C:T
                      Gene:
                      MS4A3 (Varview)
                      Functional Consequence:
                      genic_upstream_transcript_variant,intron_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:
                      11.

                      rs1489867472 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        11:60060946 (GRCh38)
                        11:59828419 (GRCh37)
                        Canonical SPDI:
                        NC_000011.10:60060945:A:G
                        Gene:
                        MS4A3 (Varview)
                        Functional Consequence:
                        genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000004/1 (TOPMED)
                        G=0.000007/1 (GnomAD)
                        HGVS:
                        12.

                        rs1489731244 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          11:60067416 (GRCh38)
                          11:59834889 (GRCh37)
                          Canonical SPDI:
                          NC_000011.10:60067415:C:T
                          Gene:
                          MS4A3 (Varview)
                          Functional Consequence:
                          intron_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.

                          rs1489600891 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            11:60069998 (GRCh38)
                            11:59837471 (GRCh37)
                            Canonical SPDI:
                            NC_000011.10:60069997:T:C
                            Gene:
                            MS4A3 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000008/2 (TOPMED)
                            C=0.000014/2 (GnomAD)
                            HGVS:
                            14.

                            rs1489549689 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              11:60063319 (GRCh38)
                              11:59830792 (GRCh37)
                              Canonical SPDI:
                              NC_000011.10:60063318:A:G
                              Gene:
                              MS4A3 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000015/4 (TOPMED)
                              G=0.000036/5 (GnomAD)
                              HGVS:
                              15.

                              rs1489326842 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                11:60058326 (GRCh38)
                                11:59825799 (GRCh37)
                                Canonical SPDI:
                                NC_000011.10:60058325:G:A
                                Gene:
                                MS4A3 (Varview)
                                Functional Consequence:
                                genic_upstream_transcript_variant,intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000004/1 (TOPMED)
                                HGVS:
                                16.

                                rs1489230660 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>T [Show Flanks]
                                  Chromosome:
                                  11:60055685 (GRCh38)
                                  11:59823158 (GRCh37)
                                  Canonical SPDI:
                                  NC_000011.10:60055684:G:T
                                  Gene:
                                  MS4A3 (Varview)
                                  Functional Consequence:
                                  2KB_upstream_variant,upstream_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.

                                  rs1489032888 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>A [Show Flanks]
                                    Chromosome:
                                    11:60070365 (GRCh38)
                                    11:59837838 (GRCh37)
                                    Canonical SPDI:
                                    NC_000011.10:60070364:T:A
                                    Gene:
                                    MS4A3 (Varview)
                                    Functional Consequence:
                                    3_prime_UTR_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000004/1 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1488912200 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>C,T [Show Flanks]
                                      Chromosome:
                                      11:60064466 (GRCh38)
                                      11:59831939 (GRCh37)
                                      Canonical SPDI:
                                      NC_000011.10:60064465:G:C,NC_000011.10:60064465:G:T
                                      Gene:
                                      MS4A3 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      HGVS:
                                      19.

                                      rs1488899076 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        11:60059985 (GRCh38)
                                        11:59827458 (GRCh37)
                                        Canonical SPDI:
                                        NC_000011.10:60059984:C:T
                                        Gene:
                                        MS4A3 (Varview)
                                        Functional Consequence:
                                        genic_upstream_transcript_variant,intron_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:
                                        20.

                                        rs1488796110 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>G [Show Flanks]
                                          Chromosome:
                                          11:60067736 (GRCh38)
                                          11:59835209 (GRCh37)
                                          Canonical SPDI:
                                          NC_000011.10:60067735:C:G
                                          Gene:
                                          MS4A3 (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:

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