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Items: 1 to 20 of 3440

1.

rs1491513186 has merged into rs131450 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    AAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA [Show Flanks]
    Chromosome:
    22:23771044 (GRCh38)
    22:24113231 (GRCh37)
    Canonical SPDI:
    NC_000022.11:23771033:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000022.11:23771033:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000022.11:23771033:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000022.11:23771033:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000022.11:23771033:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000022.11:23771033:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000022.11:23771033:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000022.11:23771033:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000022.11:23771033:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000022.11:23771033:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000022.11:23771033:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:23771033:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:23771033:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
    Gene:
    MMP11 (Varview), LOC107985577 (Varview)
    Functional Consequence:
    intron_variant,upstream_transcript_variant,2KB_upstream_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    AAAAAAAAAAA=0./0 (ALFA)
    A=0.0042/16 (ALSPAC)
    A=0.0043/16 (TWINSUK)
    A=0.0933/467 (1000Genomes)
    HGVS:
    NC_000022.11:g.23771044_23771053del, NC_000022.11:g.23771045_23771053del, NC_000022.11:g.23771046_23771053del, NC_000022.11:g.23771047_23771053del, NC_000022.11:g.23771048_23771053del, NC_000022.11:g.23771050_23771053del, NC_000022.11:g.23771051_23771053del, NC_000022.11:g.23771052_23771053del, NC_000022.11:g.23771053del, NC_000022.11:g.23771053dup, NC_000022.11:g.23771052_23771053dup, NC_000022.11:g.23771051_23771053dup, NC_000022.11:g.23771047_23771053dup, NC_000022.10:g.24113231_24113240del, NC_000022.10:g.24113232_24113240del, NC_000022.10:g.24113233_24113240del, NC_000022.10:g.24113234_24113240del, NC_000022.10:g.24113235_24113240del, NC_000022.10:g.24113237_24113240del, NC_000022.10:g.24113238_24113240del, NC_000022.10:g.24113239_24113240del, NC_000022.10:g.24113240del, NC_000022.10:g.24113240dup, NC_000022.10:g.24113239_24113240dup, NC_000022.10:g.24113238_24113240dup, NC_000022.10:g.24113234_24113240dup, NG_029443.1:g.3196_3205del, NG_029443.1:g.3197_3205del, NG_029443.1:g.3198_3205del, NG_029443.1:g.3199_3205del, NG_029443.1:g.3200_3205del, NG_029443.1:g.3202_3205del, NG_029443.1:g.3203_3205del, NG_029443.1:g.3204_3205del, NG_029443.1:g.3205del, NG_029443.1:g.3205dup, NG_029443.1:g.3204_3205dup, NG_029443.1:g.3203_3205dup, NG_029443.1:g.3199_3205dup, NG_034223.1:g.1930_1939del, NG_034223.1:g.1931_1939del, NG_034223.1:g.1932_1939del, NG_034223.1:g.1933_1939del, NG_034223.1:g.1934_1939del, NG_034223.1:g.1936_1939del, NG_034223.1:g.1937_1939del, NG_034223.1:g.1938_1939del, NG_034223.1:g.1939del, NG_034223.1:g.1939dup, NG_034223.1:g.1938_1939dup, NG_034223.1:g.1937_1939dup, NG_034223.1:g.1933_1939dup, NT_187633.1:g.7406_7415del, NT_187633.1:g.7407_7415del, NT_187633.1:g.7408_7415del, NT_187633.1:g.7409_7415del, NT_187633.1:g.7410_7415del, NT_187633.1:g.7412_7415del, NT_187633.1:g.7413_7415del, NT_187633.1:g.7414_7415del, NT_187633.1:g.7415del, NT_187633.1:g.7415dup, NT_187633.1:g.7414_7415dup, NT_187633.1:g.7413_7415dup, NT_187633.1:g.7409_7415dup
    2.

    rs1491016403 has merged into rs58753819 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      AAAAAAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA [Show Flanks]
      Chromosome:
      22:23777575 (GRCh38)
      22:24119762 (GRCh37)
      Canonical SPDI:
      NC_000022.11:23777566:AAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000022.11:23777566:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000022.11:23777566:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000022.11:23777566:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000022.11:23777566:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000022.11:23777566:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000022.11:23777566:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000022.11:23777566:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000022.11:23777566:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000022.11:23777566:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000022.11:23777566:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000022.11:23777566:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:23777566:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
      Gene:
      MMP11 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      AAAAAAAA=0./0 (ALFA)
      HGVS:
      NC_000022.11:g.23777575_23777585del, NC_000022.11:g.23777578_23777585del, NC_000022.11:g.23777579_23777585del, NC_000022.11:g.23777580_23777585del, NC_000022.11:g.23777581_23777585del, NC_000022.11:g.23777582_23777585del, NC_000022.11:g.23777583_23777585del, NC_000022.11:g.23777584_23777585del, NC_000022.11:g.23777585del, NC_000022.11:g.23777585dup, NC_000022.11:g.23777584_23777585dup, NC_000022.11:g.23777583_23777585dup, NC_000022.11:g.23777581_23777585dup, NC_000022.10:g.24119762_24119772del, NC_000022.10:g.24119765_24119772del, NC_000022.10:g.24119766_24119772del, NC_000022.10:g.24119767_24119772del, NC_000022.10:g.24119768_24119772del, NC_000022.10:g.24119769_24119772del, NC_000022.10:g.24119770_24119772del, NC_000022.10:g.24119771_24119772del, NC_000022.10:g.24119772del, NC_000022.10:g.24119772dup, NC_000022.10:g.24119771_24119772dup, NC_000022.10:g.24119770_24119772dup, NC_000022.10:g.24119768_24119772dup, NG_029443.1:g.9727_9737del, NG_029443.1:g.9730_9737del, NG_029443.1:g.9731_9737del, NG_029443.1:g.9732_9737del, NG_029443.1:g.9733_9737del, NG_029443.1:g.9734_9737del, NG_029443.1:g.9735_9737del, NG_029443.1:g.9736_9737del, NG_029443.1:g.9737del, NG_029443.1:g.9737dup, NG_029443.1:g.9736_9737dup, NG_029443.1:g.9735_9737dup, NG_029443.1:g.9733_9737dup, NT_187633.1:g.13937_13947del, NT_187633.1:g.13940_13947del, NT_187633.1:g.13941_13947del, NT_187633.1:g.13942_13947del, NT_187633.1:g.13943_13947del, NT_187633.1:g.13944_13947del, NT_187633.1:g.13945_13947del, NT_187633.1:g.13946_13947del, NT_187633.1:g.13947del, NT_187633.1:g.13947dup, NT_187633.1:g.13946_13947dup, NT_187633.1:g.13945_13947dup, NT_187633.1:g.13943_13947dup
      3.

      rs1490795797 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        ->GA [Show Flanks]
        Chromosome:
        22:23771049 (GRCh38)
        22:24113237 (GRCh37)
        Canonical SPDI:
        NC_000022.11:23771049:A:AGA
        Gene:
        MMP11 (Varview), LOC107985577 (Varview)
        Functional Consequence:
        2KB_upstream_variant,intron_variant,upstream_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        AGA=0./0 (ALFA)
        HGVS:
        4.

        rs1490733510 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          22:23774644 (GRCh38)
          22:24116831 (GRCh37)
          Canonical SPDI:
          NC_000022.11:23774643:T:C
          Gene:
          MMP11 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0.000108/2 (ALFA)
          C=0.000011/3 (TOPMED)
          C=0.000029/4 (GnomAD)
          C=0.000223/1 (Estonian)
          HGVS:
          5.

          rs1490708264 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            C>- [Show Flanks]
            Chromosome:
            22:23777039 (GRCh38)
            22:24119226 (GRCh37)
            Canonical SPDI:
            NC_000022.11:23777038:CC:C
            Gene:
            MMP11 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            CC=0.000071/1 (ALFA)
            -=0.000022/3 (GnomAD)
            -=0.000042/11 (TOPMED)
            HGVS:
            6.

            rs1489978059 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>A,T [Show Flanks]
              Chromosome:
              22:23771407 (GRCh38)
              22:24113594 (GRCh37)
              Canonical SPDI:
              NC_000022.11:23771406:C:A,NC_000022.11:23771406:C:T
              Gene:
              MMP11 (Varview), LOC107985577 (Varview)
              Functional Consequence:
              2KB_upstream_variant,intron_variant,upstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              A=0.000015/4 (TOPMED)
              HGVS:
              7.

              rs1489916714 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                22:23773618 (GRCh38)
                22:24115805 (GRCh37)
                Canonical SPDI:
                NC_000022.11:23773617:A:G
                Gene:
                MMP11 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                G=0./0 (ALFA)
                G=0.000007/1 (GnomAD)
                HGVS:
                8.

                rs1489683586 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>G [Show Flanks]
                  Chromosome:
                  22:23776050 (GRCh38)
                  22:24118237 (GRCh37)
                  Canonical SPDI:
                  NC_000022.11:23776049:C:G
                  Gene:
                  MMP11 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000004/1 (TOPMED)
                  G=0.000035/1 (TOMMO)
                  G=0.000156/1 (1000Genomes)
                  HGVS:
                  9.

                  rs1489662320 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    22:23783531 (GRCh38)
                    22:24125718 (GRCh37)
                    Canonical SPDI:
                    NC_000022.11:23783530:A:G
                    Gene:
                    MMP11 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,coding_sequence_variant,missense_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    10.

                    rs1489556277 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>G [Show Flanks]
                      Chromosome:
                      22:23773072 (GRCh38)
                      22:24115259 (GRCh37)
                      Canonical SPDI:
                      NC_000022.11:23773071:C:G
                      Gene:
                      MMP11 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000011/3 (TOPMED)
                      HGVS:
                      11.

                      rs1489502402 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A,T [Show Flanks]
                        Chromosome:
                        22:23772319 (GRCh38)
                        22:24114506 (GRCh37)
                        Canonical SPDI:
                        NC_000022.11:23772318:G:A,NC_000022.11:23772318:G:T
                        Gene:
                        MMP11 (Varview), LOC107985577 (Varview)
                        Functional Consequence:
                        2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000007/1 (GnomAD)
                        HGVS:
                        12.

                        rs1489424516 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>C [Show Flanks]
                          Chromosome:
                          22:23771975 (GRCh38)
                          22:24114162 (GRCh37)
                          Canonical SPDI:
                          NC_000022.11:23771974:A:C
                          Gene:
                          MMP11 (Varview), LOC107985577 (Varview)
                          Functional Consequence:
                          2KB_upstream_variant,upstream_transcript_variant,non_coding_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:
                          13.

                          rs1489312983 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            C>- [Show Flanks]
                            Chromosome:
                            22:23784512 (GRCh38)
                            22:24126699 (GRCh37)
                            Canonical SPDI:
                            NC_000022.11:23784511:CCCC:CCC
                            Gene:
                            MMP11 (Varview)
                            Functional Consequence:
                            downstream_transcript_variant,500B_downstream_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            CCC=0./0 (ALFA)
                            -=0.000004/1 (TOPMED)
                            HGVS:
                            14.

                            rs1489145707 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              22:23780699 (GRCh38)
                              22:24122886 (GRCh37)
                              Canonical SPDI:
                              NC_000022.11:23780698:T:C
                              Gene:
                              MMP11 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000011/3 (TOPMED)
                              C=0.000014/2 (GnomAD)
                              HGVS:
                              15.

                              rs1489053771 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                22:23780295 (GRCh38)
                                22:24122482 (GRCh37)
                                Canonical SPDI:
                                NC_000022.11:23780294:C:T
                                Gene:
                                MMP11 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                T=0./0 (ALFA)
                                HGVS:
                                16.

                                rs1488575561 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  22:23772792 (GRCh38)
                                  22:24114979 (GRCh37)
                                  Canonical SPDI:
                                  NC_000022.11:23772791:A:G
                                  Gene:
                                  MMP11 (Varview), LOC107985577 (Varview)
                                  Functional Consequence:
                                  2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000007/1 (GnomAD)
                                  A=0.5/1 (SGDP_PRJ)
                                  HGVS:
                                  17.

                                  rs1488524632 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    22:23771871 (GRCh38)
                                    22:24114058 (GRCh37)
                                    Canonical SPDI:
                                    NC_000022.11:23771870:G:A
                                    Gene:
                                    MMP11 (Varview), LOC107985577 (Varview)
                                    Functional Consequence:
                                    2KB_upstream_variant,upstream_transcript_variant,non_coding_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:
                                    18.

                                    rs1488413978 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>A [Show Flanks]
                                      Chromosome:
                                      22:23783881 (GRCh38)
                                      22:24126068 (GRCh37)
                                      Canonical SPDI:
                                      NC_000022.11:23783880:C:A
                                      Gene:
                                      MMP11 (Varview)
                                      Functional Consequence:
                                      3_prime_UTR_variant,non_coding_transcript_variant
                                      HGVS:
                                      19.

                                      rs1488253009 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        22:23783688 (GRCh38)
                                        22:24125875 (GRCh37)
                                        Canonical SPDI:
                                        NC_000022.11:23783687:C:T
                                        Gene:
                                        MMP11 (Varview)
                                        Functional Consequence:
                                        3_prime_UTR_variant,non_coding_transcript_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000019/3 (GnomAD_exomes)
                                        HGVS:
                                        20.

                                        rs1488221861 [Homo sapiens]
                                          Variant type:
                                          DEL
                                          Alleles:
                                          C>- [Show Flanks]
                                          Chromosome:
                                          22:23782223 (GRCh38)
                                          22:24124410 (GRCh37)
                                          Canonical SPDI:
                                          NC_000022.11:23782222:C:
                                          Gene:
                                          MMP11 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          HGVS:

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