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Links from Gene

Items: 1 to 20 of 3201

1.

rs1491342449 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    ->TT [Show Flanks]
    Chromosome:
    16:3052129 (GRCh38)
    16:3102131 (GRCh37)
    Canonical SPDI:
    NC_000016.10:3052129:T:TTT
    Gene:
    MMP25 (Varview), MMP25-AS1 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
    Validated:
    by frequency,by alfa
    MAF:
    TTT=0./0 (ALFA)
    TT=0.000008/2 (TOPMED)
    HGVS:
    2.

    rs1490948775 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      16:3053305 (GRCh38)
      16:3103306 (GRCh37)
      Canonical SPDI:
      NC_000016.10:3053304:G:A
      Gene:
      MMP25 (Varview), MMP25-AS1 (Varview), LOC124900372 (Varview)
      Functional Consequence:
      500B_downstream_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant,non_coding_transcript_variant,downstream_transcript_variant
      Validated:
      by frequency,by alfa
      MAF:
      A=0.000169/2 (ALFA)
      A=0.00023/32 (GnomAD)
      HGVS:
      3.

      rs1490925279 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        16:3061049 (GRCh38)
        16:3111050 (GRCh37)
        Canonical SPDI:
        NC_000016.10:3061048:A:G
        Gene:
        MMP25 (Varview), MMP25-AS1 (Varview), LOC124900372 (Varview)
        Functional Consequence:
        2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant,upstream_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        G=0.000071/1 (ALFA)
        G=0.000015/4 (TOPMED)
        HGVS:
        4.

        rs1490529588 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          16:3052523 (GRCh38)
          16:3102524 (GRCh37)
          Canonical SPDI:
          NC_000016.10:3052522:A:G
          Gene:
          MMP25 (Varview), MMP25-AS1 (Varview)
          Functional Consequence:
          non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          G=0.0002/1 (ALFA)
          HGVS:
          5.

          rs1489991117 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            16:3061310 (GRCh38)
            16:3111311 (GRCh37)
            Canonical SPDI:
            NC_000016.10:3061309:A:G
            Gene:
            MMP25-AS1 (Varview), LOC124900372 (Varview)
            Functional Consequence:
            2KB_upstream_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)
            G=0.000035/1 (TOMMO)
            HGVS:
            6.

            rs1489764264 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              16:3060728 (GRCh38)
              16:3110729 (GRCh37)
              Canonical SPDI:
              NC_000016.10:3060727:C:T
              Gene:
              MMP25 (Varview), MMP25-AS1 (Varview), LOC124900372 (Varview)
              Functional Consequence:
              2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant,upstream_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              T=0./0 (ALFA)
              T=0.000004/1 (TOPMED)
              HGVS:
              7.

              rs1489259810 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>T [Show Flanks]
                Chromosome:
                16:3054833 (GRCh38)
                16:3104834 (GRCh37)
                Canonical SPDI:
                NC_000016.10:3054832:G:T
                Gene:
                MMP25 (Varview), MMP25-AS1 (Varview), LOC124900372 (Varview)
                Functional Consequence:
                upstream_transcript_variant,5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                T=0./0 (ALFA)
                HGVS:
                8.

                rs1489063016 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  16:3052417 (GRCh38)
                  16:3102418 (GRCh37)
                  Canonical SPDI:
                  NC_000016.10:3052416:G:A
                  Gene:
                  MMP25 (Varview), MMP25-AS1 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000007/1 (GnomAD)
                  HGVS:
                  9.

                  rs1488499899 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>C [Show Flanks]
                    Chromosome:
                    16:3055113 (GRCh38)
                    16:3105114 (GRCh37)
                    Canonical SPDI:
                    NC_000016.10:3055112:A:C
                    Gene:
                    MMP25 (Varview), MMP25-AS1 (Varview), LOC124900372 (Varview)
                    Functional Consequence:
                    5_prime_UTR_variant,intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0.000214/3 (ALFA)
                    C=0.000091/24 (TOPMED)
                    C=0.000136/19 (GnomAD)
                    HGVS:
                    10.

                    rs1488473914 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      16:3056428 (GRCh38)
                      16:3106429 (GRCh37)
                      Canonical SPDI:
                      NC_000016.10:3056427:C:T
                      Gene:
                      MMP25 (Varview), MMP25-AS1 (Varview), LOC124900372 (Varview)
                      Functional Consequence:
                      downstream_transcript_variant,genic_downstream_transcript_variant,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:
                      11.

                      rs1487915346 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        16:3058967 (GRCh38)
                        16:3108968 (GRCh37)
                        Canonical SPDI:
                        NC_000016.10:3058966:C:T
                        Gene:
                        MMP25 (Varview), MMP25-AS1 (Varview), LOC124900372 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,genic_downstream_transcript_variant,intron_variant,missense_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0.000142/2 (ALFA)
                        T=0.000006/1 (GnomAD_exomes)
                        T=0.000007/1 (GnomAD)
                        T=0.000011/3 (TOPMED)
                        HGVS:
                        12.

                        rs1487852072 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A,C,T [Show Flanks]
                          Chromosome:
                          16:3053876 (GRCh38)
                          16:3103877 (GRCh37)
                          Canonical SPDI:
                          NC_000016.10:3053875:G:A,NC_000016.10:3053875:G:C,NC_000016.10:3053875:G:T
                          Gene:
                          MMP25 (Varview), MMP25-AS1 (Varview), LOC124900372 (Varview)
                          Functional Consequence:
                          intron_variant,coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant,upstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000004/1 (TOPMED)
                          A=0.000007/1 (GnomAD)
                          HGVS:
                          13.

                          rs1487680613 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            16:3054230 (GRCh38)
                            16:3104231 (GRCh37)
                            Canonical SPDI:
                            NC_000016.10:3054229:A:G
                            Gene:
                            MMP25 (Varview), MMP25-AS1 (Varview), LOC124900372 (Varview)
                            Functional Consequence:
                            intron_variant,coding_sequence_variant,genic_upstream_transcript_variant,synonymous_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:
                            14.

                            rs1487521059 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>C,G [Show Flanks]
                              Chromosome:
                              16:3054518 (GRCh38)
                              16:3104519 (GRCh37)
                              Canonical SPDI:
                              NC_000016.10:3054517:A:C,NC_000016.10:3054517:A:G
                              Gene:
                              MMP25 (Varview), MMP25-AS1 (Varview), LOC124900372 (Varview)
                              Functional Consequence:
                              genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant,synonymous_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000048/5 (GnomAD)
                              G=0.00012/2 (TOMMO)
                              G=0.161533/472 (KOREAN)
                              HGVS:
                              15.

                              rs1487477190 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>A [Show Flanks]
                                Chromosome:
                                16:3051654 (GRCh38)
                                16:3101655 (GRCh37)
                                Canonical SPDI:
                                NC_000016.10:3051653:C:A
                                Gene:
                                MMP25 (Varview), MMP25-AS1 (Varview)
                                Functional Consequence:
                                genic_upstream_transcript_variant,intron_variant,downstream_transcript_variant,500B_downstream_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000007/1 (GnomAD)
                                A=0.000008/2 (TOPMED)
                                HGVS:
                                16.

                                rs1487395692 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  16:3059970 (GRCh38)
                                  16:3109971 (GRCh37)
                                  Canonical SPDI:
                                  NC_000016.10:3059969:T:C
                                  Gene:
                                  MMP25 (Varview), MMP25-AS1 (Varview), LOC124900372 (Varview)
                                  Functional Consequence:
                                  upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant,3_prime_UTR_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000007/1 (GnomAD)
                                  C=0.000019/5 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1487291911 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>A,G,T [Show Flanks]
                                    Chromosome:
                                    16:3059949 (GRCh38)
                                    16:3109950 (GRCh37)
                                    Canonical SPDI:
                                    NC_000016.10:3059948:C:A,NC_000016.10:3059948:C:G,NC_000016.10:3059948:C:T
                                    Gene:
                                    MMP25 (Varview), MMP25-AS1 (Varview), LOC124900372 (Varview)
                                    Functional Consequence:
                                    upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant,3_prime_UTR_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    HGVS:
                                    NC_000016.10:g.3059949C>A, NC_000016.10:g.3059949C>G, NC_000016.10:g.3059949C>T, NC_000016.9:g.3109950C>A, NC_000016.9:g.3109950C>G, NC_000016.9:g.3109950C>T, NM_022468.5:c.*851C>A, NM_022468.5:c.*851C>G, NM_022468.5:c.*851C>T, NM_022468.4:c.*851C>A, NM_022468.4:c.*851C>G, NM_022468.4:c.*851C>T, XM_011522605.3:c.*851C>A, XM_011522605.3:c.*851C>G, XM_011522605.3:c.*851C>T, XM_011522605.2:c.*851C>A, XM_011522605.2:c.*851C>G, XM_011522605.2:c.*851C>T, XM_011522605.1:c.*851C>A, XM_011522605.1:c.*851C>G, XM_011522605.1:c.*851C>T, XM_024450391.2:c.*851C>A, XM_024450391.2:c.*851C>G, XM_024450391.2:c.*851C>T, XM_024450391.1:c.*851C>A, XM_024450391.1:c.*851C>G, XM_024450391.1:c.*851C>T, XM_024450390.2:c.*851C>A, XM_024450390.2:c.*851C>G, XM_024450390.2:c.*851C>T, XM_024450390.1:c.*851C>A, XM_024450390.1:c.*851C>G, XM_024450390.1:c.*851C>T, NM_022718.2:c.*391C>A, NM_022718.2:c.*391C>G, NM_022718.2:c.*391C>T, XM_047434484.1:c.*851C>A, XM_047434484.1:c.*851C>G, XM_047434484.1:c.*851C>T, NM_022718.1:c.*391C>A, NM_022718.1:c.*391C>G, NM_022718.1:c.*391C>T
                                    18.

                                    rs1487027512 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A,C [Show Flanks]
                                      Chromosome:
                                      16:3055945 (GRCh38)
                                      16:3105946 (GRCh37)
                                      Canonical SPDI:
                                      NC_000016.10:3055944:G:A,NC_000016.10:3055944:G:C
                                      Gene:
                                      MMP25 (Varview), MMP25-AS1 (Varview), LOC124900372 (Varview)
                                      Functional Consequence:
                                      intron_variant,coding_sequence_variant,missense_variant,5_prime_UTR_variant,non_coding_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000019/5 (TOPMED)
                                      C=0.000029/4 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1487017221 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>C [Show Flanks]
                                        Chromosome:
                                        16:3056125 (GRCh38)
                                        16:3106126 (GRCh37)
                                        Canonical SPDI:
                                        NC_000016.10:3056124:G:C
                                        Gene:
                                        MMP25 (Varview), MMP25-AS1 (Varview), LOC124900372 (Varview)
                                        Functional Consequence:
                                        genic_downstream_transcript_variant,intron_variant,downstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000015/4 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1487010057 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          16:3053294 (GRCh38)
                                          16:3103295 (GRCh37)
                                          Canonical SPDI:
                                          NC_000016.10:3053293:A:G
                                          Gene:
                                          MMP25 (Varview), MMP25-AS1 (Varview), LOC124900372 (Varview)
                                          Functional Consequence:
                                          genic_upstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant,intron_variant,downstream_transcript_variant,non_coding_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0.000122/2 (ALFA)
                                          G=0.000029/4 (GnomAD)
                                          G=0.000156/1 (1000Genomes)
                                          HGVS:

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