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Items: 1 to 20 of 2921

1.

rs1491442412 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    TA>- [Show Flanks]
    Chromosome:
    11:102865556 (GRCh38)
    11:102736287 (GRCh37)
    Canonical SPDI:
    NC_000011.10:102865555:TA:
    Gene:
    MMP12 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    -=0./0 (ALFA)
    -=0.000004/1 (TOPMED)
    HGVS:
    2.

    rs1490721145 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      11:102865439 (GRCh38)
      11:102736170 (GRCh37)
      Canonical SPDI:
      NC_000011.10:102865438:C:T
      Gene:
      MMP12 (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:
      3.

      rs1490693934 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        11:102864318 (GRCh38)
        11:102735049 (GRCh37)
        Canonical SPDI:
        NC_000011.10:102864317:C:T
        Gene:
        MMP12 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0.000071/1 (ALFA)
        T=0.000021/3 (GnomAD)
        HGVS:
        4.

        rs1490668413 [Homo sapiens]
          Variant type:
          INS
          Alleles:
          ->G [Show Flanks]
          Chromosome:
          11:102874041 (GRCh38)
          11:102744772 (GRCh37)
          Canonical SPDI:
          NC_000011.10:102874041::G
          Gene:
          MMP12 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0./0 (ALFA)
          G=0.000029/4 (GnomAD)
          HGVS:
          5.

          rs1490346694 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            11:102873092 (GRCh38)
            11:102743822 (GRCh37)
            Canonical SPDI:
            NC_000011.10:102873091:A:G
            Gene:
            MMP12 (Varview)
            Functional Consequence:
            synonymous_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0./0 (ALFA)
            G=0.000004/1 (TOPMED)
            G=0.000007/1 (GnomAD)
            HGVS:
            6.

            rs1490295156 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C,G [Show Flanks]
              Chromosome:
              11:102872210 (GRCh38)
              11:102742940 (GRCh37)
              Canonical SPDI:
              NC_000011.10:102872209:T:C,NC_000011.10:102872209:T:G
              Gene:
              MMP12 (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:
              7.

              rs1489904958 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                11:102864882 (GRCh38)
                11:102735613 (GRCh37)
                Canonical SPDI:
                NC_000011.10:102864881:C:T
                Gene:
                MMP12 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                T=0.000007/1 (GnomAD)
                HGVS:
                8.

                rs1489875964 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  11:102863748 (GRCh38)
                  11:102734479 (GRCh37)
                  Canonical SPDI:
                  NC_000011.10:102863747:G:A
                  Gene:
                  MMP12 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000008/2 (TOPMED)
                  HGVS:
                  9.

                  rs1489856898 has merged into rs1289683569 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    A>-,AA [Show Flanks]
                    Chromosome:
                    11:102873600 (GRCh38)
                    11:102744330 (GRCh37)
                    Canonical SPDI:
                    NC_000011.10:102873599:AAAAAAAA:AAAAAAA,NC_000011.10:102873599:AAAAAAAA:AAAAAAAAA
                    Gene:
                    MMP12 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    AAAAAAAAA=0./0 (ALFA)
                    HGVS:
                    10.

                    rs1489806577 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      11:102872576 (GRCh38)
                      11:102743306 (GRCh37)
                      Canonical SPDI:
                      NC_000011.10:102872575:C:T
                      Gene:
                      MMP12 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000064/17 (TOPMED)
                      T=0.000071/10 (GnomAD)
                      HGVS:
                      11.

                      rs1489262028 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        11:102872589 (GRCh38)
                        11:102743319 (GRCh37)
                        Canonical SPDI:
                        NC_000011.10:102872588:C:T
                        Gene:
                        MMP12 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000029/4 (GnomAD)
                        T=0.000034/9 (TOPMED)
                        HGVS:
                        12.

                        rs1488782375 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          11:102863648 (GRCh38)
                          11:102734379 (GRCh37)
                          Canonical SPDI:
                          NC_000011.10:102863647:C:T
                          Gene:
                          MMP12 (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:
                          13.

                          rs1488636684 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>T [Show Flanks]
                            Chromosome:
                            11:102876293 (GRCh38)
                            11:102747023 (GRCh37)
                            Canonical SPDI:
                            NC_000011.10:102876292:G:T
                            Gene:
                            MMP12 (Varview)
                            Functional Consequence:
                            2KB_upstream_variant,upstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0.000071/1 (ALFA)
                            T=0.000007/1 (GnomAD)
                            HGVS:
                            14.

                            rs1488331394 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>G [Show Flanks]
                              Chromosome:
                              11:102863240 (GRCh38)
                              11:102733971 (GRCh37)
                              Canonical SPDI:
                              NC_000011.10:102863239:T:G
                              Gene:
                              MMP12 (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)
                              G=0.00001/2 (GnomAD_exomes)
                              HGVS:
                              15.

                              rs1487748542 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                11:102867275 (GRCh38)
                                11:102738006 (GRCh37)
                                Canonical SPDI:
                                NC_000011.10:102867274:T:C
                                Gene:
                                MMP12 (Varview)
                                Functional Consequence:
                                synonymous_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0.000054/1 (ALFA)
                                C=0.000004/1 (GnomAD_exomes)
                                C=0.000011/3 (TOPMED)
                                C=0.000021/3 (GnomAD)
                                C=0.000223/1 (Estonian)
                                HGVS:
                                16.

                                rs1487541826 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  11:102871226 (GRCh38)
                                  11:102741956 (GRCh37)
                                  Canonical SPDI:
                                  NC_000011.10:102871225:T:C
                                  Gene:
                                  MMP12 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000036/5 (GnomAD)
                                  C=0.000042/11 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1487490093 [Homo sapiens]
                                    Variant type:
                                    DEL
                                    Alleles:
                                    C>- [Show Flanks]
                                    Chromosome:
                                    11:102869958 (GRCh38)
                                    11:102740688 (GRCh37)
                                    Canonical SPDI:
                                    NC_000011.10:102869957:C:
                                    Gene:
                                    MMP12 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    -=0./0 (ALFA)
                                    -=0.000004/1 (TOPMED)
                                    -=0.001092/2 (Korea1K)
                                    -=0.001492/25 (TOMMO)
                                    HGVS:
                                    18.

                                    rs1487348934 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>C [Show Flanks]
                                      Chromosome:
                                      11:102871526 (GRCh38)
                                      11:102742256 (GRCh37)
                                      Canonical SPDI:
                                      NC_000011.10:102871525:A:C
                                      Gene:
                                      MMP12 (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:
                                      19.

                                      rs1487088895 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        11:102866119 (GRCh38)
                                        11:102736850 (GRCh37)
                                        Canonical SPDI:
                                        NC_000011.10:102866118:G:A
                                        Gene:
                                        MMP12 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000004/1 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1486884473 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>C [Show Flanks]
                                          Chromosome:
                                          11:102870078 (GRCh38)
                                          11:102740808 (GRCh37)
                                          Canonical SPDI:
                                          NC_000011.10:102870077:G:C
                                          Gene:
                                          MMP12 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000004/1 (TOPMED)
                                          HGVS:

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