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1.

rs1491575430 has merged into rs752333662 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    GGGGGGGGGGGG>GGGGGGGGG,GGGGGGGGGG,GGGGGGGGGGG,GGGGGGGGGGGGG,GGGGGGGGGGGGGG,GGGGGGGGGGGGGGG
    Chromosome:
    16:55479979
    Gene:
    MMP2 (Varview)
    Functional Consequence:
    upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
    Validated:
    by frequency,by cluster
    MAF:
    -=0.9824/4920 (1000Genomes)
    HGVS:
    NC_000016.10:g.55479988_55479990del, NC_000016.10:g.55479989_55479990del, NC_000016.10:g.55479990del, NC_000016.10:g.55479990dup, NC_000016.10:g.55479989_55479990dup, NC_000016.10:g.55479988_55479990dup, NC_000016.9:g.55513900_55513902del, NC_000016.9:g.55513901_55513902del, NC_000016.9:g.55513902del, NC_000016.9:g.55513902dup, NC_000016.9:g.55513901_55513902dup, NC_000016.9:g.55513900_55513902dup, NG_008989.1:g.5820_5822del, NG_008989.1:g.5821_5822del, NG_008989.1:g.5822del, NG_008989.1:g.5822dup, NG_008989.1:g.5821_5822dup, NG_008989.1:g.5820_5822dup
    2.

    rs1491508349 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      G>GCG
      Chromosome:
      16:55486349
      Gene:
      MMP2 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency
      MAF:
      GC=0.0007/7 (GnomAD)
      HGVS:
      NC_000016.10:g.55486349_55486350insCG, NC_000016.9:g.55520261_55520262insCG, NG_008989.1:g.12181_12182insCG
      3.

      rs1491507313 has merged into rs752333662 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        GGGGGGGGGGGG>GGGGGGGGG,GGGGGGGGGG,GGGGGGGGGGG,GGGGGGGGGGGGG,GGGGGGGGGGGGGG,GGGGGGGGGGGGGGG
        Chromosome:
        16:55479979
        Gene:
        MMP2 (Varview)
        Functional Consequence:
        upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
        Validated:
        by frequency,by cluster
        MAF:
        -=0.9824/4920 (1000Genomes)
        HGVS:
        NC_000016.10:g.55479988_55479990del, NC_000016.10:g.55479989_55479990del, NC_000016.10:g.55479990del, NC_000016.10:g.55479990dup, NC_000016.10:g.55479989_55479990dup, NC_000016.10:g.55479988_55479990dup, NC_000016.9:g.55513900_55513902del, NC_000016.9:g.55513901_55513902del, NC_000016.9:g.55513902del, NC_000016.9:g.55513902dup, NC_000016.9:g.55513901_55513902dup, NC_000016.9:g.55513900_55513902dup, NG_008989.1:g.5820_5822del, NG_008989.1:g.5821_5822del, NG_008989.1:g.5822del, NG_008989.1:g.5822dup, NG_008989.1:g.5821_5822dup, NG_008989.1:g.5820_5822dup
        4.

        rs1491435196 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          TGTG>TGTGCGTGTG
          Chromosome:
          16:55486348
          Gene:
          MMP2 (Varview)
          Functional Consequence:
          intron_variant
          HGVS:
          NC_000016.10:g.55486351_55486352insCGTGTG, NC_000016.9:g.55520263_55520264insCGTGTG, NG_008989.1:g.12183_12184insCGTGTG
          5.

          rs1491299037 [Homo sapiens]
            Variant type:
            DEL
            Alleles:
            CT>-
            Chromosome:
            16:55486347
            Gene:
            MMP2 (Varview)
            Functional Consequence:
            intron_variant
            HGVS:
            NC_000016.10:g.55486347_55486348del, NC_000016.9:g.55520259_55520260del, NG_008989.1:g.12179_12180del
            6.

            rs1491175556 has merged into rs57608135 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT>TGTGTGTGTGTGTGTGTGTGT,TGTGTGTGTGTGTGTGTGTGTGT,TGTGTGTGTGTGTGTGTGTGTGTGT,TGTGTGTGTGTGTGTGTGTGTGTGTGT,TGTGTGTGTGTGTGTGTGTGTGTGTGTGT,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
              Chromosome:
              16:55486348
              Gene:
              MMP2 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by cluster
              MAF:
              -=0.3964/1985 (1000Genomes)
              HGVS:
              NC_000016.10:g.55486349_55486350GT[10], NC_000016.10:g.55486349_55486350GT[11], NC_000016.10:g.55486349_55486350GT[12], NC_000016.10:g.55486349_55486350GT[13], NC_000016.10:g.55486349_55486350GT[14], NC_000016.10:g.55486349_55486350GT[15], NC_000016.10:g.55486349_55486350GT[16], NC_000016.10:g.55486349_55486350GT[17], NC_000016.10:g.55486349_55486350GT[18], NC_000016.10:g.55486349_55486350GT[19], NC_000016.10:g.55486349_55486350GT[20], NC_000016.10:g.55486349_55486350GT[22], NC_000016.10:g.55486349_55486350GT[23], NC_000016.10:g.55486349_55486350GT[24], NC_000016.10:g.55486349_55486350GT[25], NC_000016.10:g.55486349_55486350GT[26], NC_000016.10:g.55486349_55486350GT[27], NC_000016.10:g.55486349_55486350GT[28], NC_000016.10:g.55486349_55486350GT[29], NC_000016.9:g.55520261_55520262GT[10], NC_000016.9:g.55520261_55520262GT[11], NC_000016.9:g.55520261_55520262GT[12], NC_000016.9:g.55520261_55520262GT[13], NC_000016.9:g.55520261_55520262GT[14], NC_000016.9:g.55520261_55520262GT[15], NC_000016.9:g.55520261_55520262GT[16], NC_000016.9:g.55520261_55520262GT[17], NC_000016.9:g.55520261_55520262GT[18], NC_000016.9:g.55520261_55520262GT[19], NC_000016.9:g.55520261_55520262GT[20], NC_000016.9:g.55520261_55520262GT[22], NC_000016.9:g.55520261_55520262GT[23], NC_000016.9:g.55520261_55520262GT[24], NC_000016.9:g.55520261_55520262GT[25], NC_000016.9:g.55520261_55520262GT[26], NC_000016.9:g.55520261_55520262GT[27], NC_000016.9:g.55520261_55520262GT[28], NC_000016.9:g.55520261_55520262GT[29], NG_008989.1:g.12181_12182GT[10], NG_008989.1:g.12181_12182GT[11], NG_008989.1:g.12181_12182GT[12], NG_008989.1:g.12181_12182GT[13], NG_008989.1:g.12181_12182GT[14], NG_008989.1:g.12181_12182GT[15], NG_008989.1:g.12181_12182GT[16], NG_008989.1:g.12181_12182GT[17], NG_008989.1:g.12181_12182GT[18], NG_008989.1:g.12181_12182GT[19], NG_008989.1:g.12181_12182GT[20], NG_008989.1:g.12181_12182GT[22], NG_008989.1:g.12181_12182GT[23], NG_008989.1:g.12181_12182GT[24], NG_008989.1:g.12181_12182GT[25], NG_008989.1:g.12181_12182GT[26], NG_008989.1:g.12181_12182GT[27], NG_008989.1:g.12181_12182GT[28], NG_008989.1:g.12181_12182GT[29]
              7.

              rs1491173889 [Homo sapiens]
                Variant type:
                DEL
                Alleles:
                CC>-
                Chromosome:
                16:55486346
                Gene:
                MMP2 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by cluster
                MAF:
                -=0.0035/2 (NorthernSweden)
                -=0.0375/689 (GnomAD)
                HGVS:
                NC_000016.10:g.55486346_55486347del, NC_000016.9:g.55520258_55520259del, NG_008989.1:g.12178_12179del
                8.

                rs1490884465 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>T
                  Chromosome:
                  16:55495164
                  Gene:
                  MMP2 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency
                  MAF:
                  T=0.0000/2 (TOPMED)
                  HGVS:
                  NC_000016.10:g.55495164G>T, NC_000016.9:g.55529076G>T, NG_008989.1:g.20996G>T
                  9.

                  rs1490811115 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C
                    Chromosome:
                    16:55502019
                    Gene:
                    MMP2 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency
                    MAF:
                    C=0.0000/2 (TOPMED)
                    HGVS:
                    NC_000016.10:g.55502019T>C, NC_000016.9:g.55535931T>C, NG_008989.1:g.27851T>C
                    10.

                    rs1490764865 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G
                      Chromosome:
                      16:55503194
                      Gene:
                      MMP2 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency
                      MAF:
                      G=0.0000/1 (TOPMED)
                      HGVS:
                      NC_000016.10:g.55503194A>G, NC_000016.9:g.55537106A>G, NG_008989.1:g.29026A>G
                      11.

                      rs1490747347 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>C,G
                        Chromosome:
                        16:55486564
                        Gene:
                        MMP2 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by cluster
                        MAF:
                        G=0.0000/1 (TOPMED)
                        HGVS:
                        NC_000016.10:g.55486564A>C, NC_000016.10:g.55486564A>G, NC_000016.9:g.55520476A>C, NC_000016.9:g.55520476A>G, NG_008989.1:g.12396A>C, NG_008989.1:g.12396A>G
                        12.

                        rs1490715929 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C
                          Chromosome:
                          16:55487591
                          Gene:
                          MMP2 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by cluster
                          MAF:
                          C=0.0000/2 (TOPMED)
                          HGVS:
                          NC_000016.10:g.55487591T>C, NC_000016.9:g.55521503T>C, NG_008989.1:g.13423T>C
                          13.

                          rs1490560343 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>A,G,T
                            Chromosome:
                            16:55490100
                            Gene:
                            MMP2 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by cluster
                            MAF:
                            A=0.0000/1 (GnomAD)
                            G=0.0000/1 (TOPMED)
                            HGVS:
                            NC_000016.10:g.55490100C>A, NC_000016.10:g.55490100C>G, NC_000016.10:g.55490100C>T, NC_000016.9:g.55524012C>A, NC_000016.9:g.55524012C>G, NC_000016.9:g.55524012C>T, NG_008989.1:g.15932C>A, NG_008989.1:g.15932C>G, NG_008989.1:g.15932C>T
                            14.

                            rs1490484651 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>G
                              Chromosome:
                              16:55506411
                              Gene:
                              MMP2 (Varview)
                              Functional Consequence:
                              3_prime_UTR_variant
                              Validated:
                              by frequency,by cluster
                              MAF:
                              G=0.0000/1 (GnomAD)
                              G=0.0000/4 (TOPMED)
                              HGVS:
                              NC_000016.10:g.55506411C>G, NC_000016.9:g.55540323C>G, NG_008989.1:g.32243C>G, NM_004530.6:c.*969C>G, NM_004530.5:c.*969C>G, NM_004530.4:c.*969C>G, NM_001127891.2:c.*969C>G, NM_001127891.1:c.*969C>G, NM_001302508.1:c.*969C>G, NM_001302509.1:c.*969C>G, NM_001302510.1:c.*969C>G
                              15.

                              rs1490325762 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A
                                Chromosome:
                                16:55478972
                                Gene:
                                MMP2 (Varview)
                                Functional Consequence:
                                intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
                                Validated:
                                by frequency
                                MAF:
                                A=0.0000/1 (TOPMED)
                                HGVS:
                                NC_000016.10:g.55478972G>A, NC_000016.9:g.55512884G>A, NG_008989.1:g.4804G>A
                                16.

                                rs1490297575 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A
                                  Chromosome:
                                  16:55493374
                                  Gene:
                                  MMP2 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  A=0.0001/8 (TOPMED)
                                  HGVS:
                                  NC_000016.10:g.55493374G>A, NC_000016.9:g.55527286G>A, NG_008989.1:g.19206G>A
                                  17.

                                  rs1490257691 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G
                                    Chromosome:
                                    16:55485518
                                    Gene:
                                    MMP2 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    G=0.0000/1 (GnomAD)
                                    HGVS:
                                    NC_000016.10:g.55485518A>G, NC_000016.9:g.55519430A>G, NG_008989.1:g.11350A>G
                                    18.

                                    rs1490220487 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>T
                                      Chromosome:
                                      16:55487801
                                      Gene:
                                      MMP2 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by cluster
                                      MAF:
                                      T=0.0000/1 (GnomAD)
                                      T=0.0000/2 (TOPMED)
                                      HGVS:
                                      NC_000016.10:g.55487801A>T, NC_000016.9:g.55521713A>T, NG_008989.1:g.13633A>T
                                      19.

                                      rs1490108968 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C
                                        Chromosome:
                                        16:55506421
                                        Gene:
                                        MMP2 (Varview)
                                        Functional Consequence:
                                        3_prime_UTR_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        C=0.0000/1 (GnomAD)
                                        HGVS:
                                        NC_000016.10:g.55506421T>C, NC_000016.9:g.55540333T>C, NG_008989.1:g.32253T>C, NM_004530.6:c.*979T>C, NM_004530.5:c.*979T>C, NM_004530.4:c.*979T>C, NM_001127891.2:c.*979T>C, NM_001127891.1:c.*979T>C, NM_001302508.1:c.*979T>C, NM_001302509.1:c.*979T>C, NM_001302510.1:c.*979T>C
                                        20.

                                        rs1489994788 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A
                                          Chromosome:
                                          16:55501528
                                          Gene:
                                          MMP2 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          A=0.0000/1 (TOPMED)
                                          HGVS:
                                          NC_000016.10:g.55501528G>A, NC_000016.9:g.55535440G>A, NG_008989.1:g.27360G>A

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