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Links from Gene

Items: 1 to 20 of 774

1.

rs1490836356 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>C [Show Flanks]
    Chromosome:
    1:1167686 (GRCh38)
    1:1103066 (GRCh37)
    Canonical SPDI:
    NC_000001.11:1167685:G:C
    Gene:
    MIR200A (Varview), MIR200B (Varview), MIR429 (Varview), LOC124903818 (Varview)
    Functional Consequence:
    500B_downstream_variant,upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_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:
    2.

    rs1490785511 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>A,T [Show Flanks]
      Chromosome:
      1:1168323 (GRCh38)
      1:1103703 (GRCh37)
      Canonical SPDI:
      NC_000001.11:1168322:C:A,NC_000001.11:1168322:C:T
      Gene:
      MIR200A (Varview), MIR429 (Varview), LOC124903818 (Varview)
      Functional Consequence:
      500B_downstream_variant,upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      T=0.000008/2 (TOPMED)
      A=0.000035/1 (TOMMO)
      HGVS:
      3.

      rs1487648667 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        1:1167338 (GRCh38)
        1:1102718 (GRCh37)
        Canonical SPDI:
        NC_000001.11:1167337:G:A
        Gene:
        MIR200A (Varview), MIR200B (Varview), MIR429 (Varview), LOC124903818 (Varview)
        Functional Consequence:
        500B_downstream_variant,upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0./0 (ALFA)
        A=0.000019/5 (TOPMED)
        A=0.000021/3 (GnomAD)
        A=0.000035/1 (TOMMO)
        HGVS:
        4.

        rs1486944708 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A,C [Show Flanks]
          Chromosome:
          1:1165997 (GRCh38)
          1:1101377 (GRCh37)
          Canonical SPDI:
          NC_000001.11:1165996:G:A,NC_000001.11:1165996:G:C
          Gene:
          MIR200A (Varview), MIR200B (Varview), LOC124903818 (Varview)
          Functional Consequence:
          non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.000015/4 (TOPMED)
          HGVS:
          5.

          rs1485306736 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            ->C [Show Flanks]
            Chromosome:
            1:1166358 (GRCh38)
            1:1101739 (GRCh37)
            Canonical SPDI:
            NC_000001.11:1166358:CCCCCC:CCCCCCC
            Gene:
            MIR200A (Varview), MIR200B (Varview), LOC124903818 (Varview)
            Functional Consequence:
            non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            CCCCCCC=0./0 (ALFA)
            C=0.000004/1 (TOPMED)
            C=0.000007/1 (GnomAD)
            HGVS:
            6.

            rs1481256707 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>C [Show Flanks]
              Chromosome:
              1:1167624 (GRCh38)
              1:1103004 (GRCh37)
              Canonical SPDI:
              NC_000001.11:1167623:A:C
              Gene:
              MIR200A (Varview), MIR200B (Varview), MIR429 (Varview), LOC124903818 (Varview)
              Functional Consequence:
              2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant,non_coding_transcript_variant,500B_downstream_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              C=0.000004/1 (TOPMED)
              C=0.000007/1 (GnomAD)
              HGVS:
              7.

              rs1481252584 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>G [Show Flanks]
                Chromosome:
                1:1168254 (GRCh38)
                1:1103634 (GRCh37)
                Canonical SPDI:
                NC_000001.11:1168253:T:G
                Gene:
                MIR200A (Varview), MIR429 (Varview), LOC124903818 (Varview)
                Functional Consequence:
                2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant,non_coding_transcript_variant,500B_downstream_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                G=0.000004/1 (TOPMED)
                G=0.000007/1 (GnomAD)
                HGVS:
                8.

                rs1480147407 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>G,T [Show Flanks]
                  Chromosome:
                  1:1167206 (GRCh38)
                  1:1102586 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:1167205:C:G,NC_000001.11:1167205:C:T
                  Gene:
                  MIR200A (Varview), MIR200B (Varview), MIR429 (Varview), LOC124903818 (Varview)
                  Functional Consequence:
                  2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant,non_coding_transcript_variant,500B_downstream_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0.000028/1 (ALFA)
                  T=0.000041/9 (GnomAD_exomes)
                  HGVS:
                  9.

                  rs1478940738 has merged into rs1307252866 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    C>-,CC [Show Flanks]
                    Chromosome:
                    1:1167042 (GRCh38)
                    1:1102422 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:1167041:CCCCCC:CCCCC,NC_000001.11:1167041:CCCCCC:CCCCCCC
                    Gene:
                    MIR200A (Varview), MIR200B (Varview), MIR429 (Varview), LOC124903818 (Varview)
                    Functional Consequence:
                    upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    CCCCCCC=0./0 (ALFA)
                    -=0.000014/2 (GnomAD)
                    HGVS:
                    10.

                    rs1478642354 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      1:1167953 (GRCh38)
                      1:1103333 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:1167952:C:T
                      Gene:
                      MIR200A (Varview), MIR429 (Varview), LOC124903818 (Varview)
                      Functional Consequence:
                      2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant,non_coding_transcript_variant,500B_downstream_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000007/1 (GnomAD)
                      T=0.00002/4 (GnomAD_exomes)
                      HGVS:
                      11.

                      rs1478143963 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>A,C [Show Flanks]
                        Chromosome:
                        1:1166552 (GRCh38)
                        1:1101932 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:1166551:T:A,NC_000001.11:1166551:T:C
                        Gene:
                        MIR200A (Varview), MIR200B (Varview), LOC124903818 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
                        Validated:
                        by frequency,by cluster
                        MAF:
                        C=0.0164/45 (KOREAN)
                        HGVS:
                        12.

                        rs1476696682 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          TTCGGCCCCCCAGGTGCCCACCCCAGGAC>- [Show Flanks]
                          Chromosome:
                          1:1166912 (GRCh38)
                          1:1102292 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:1166909:ACTTCGGCCCCCCAGGTGCCCACCCCAGGAC:AC
                          Gene:
                          MIR200A (Varview), MIR200B (Varview), LOC124903818 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          AC=0./0 (ALFA)
                          -=0.000007/1 (GnomAD)
                          -=0.000011/3 (TOPMED)
                          HGVS:
                          13.

                          rs1476621695 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            1:1167704 (GRCh38)
                            1:1103084 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:1167703:G:A
                            Gene:
                            MIR200A (Varview), MIR429 (Varview), LOC124903818 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,2KB_upstream_variant,upstream_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:
                            14.

                            rs1474727450 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              1:1166298 (GRCh38)
                              1:1101678 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:1166297:C:T
                              Gene:
                              MIR200A (Varview), MIR200B (Varview), LOC124903818 (Varview)
                              Functional Consequence:
                              upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000004/1 (TOPMED)
                              T=0.000007/1 (GnomAD)
                              HGVS:
                              15.

                              rs1474378600 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                1:1166398 (GRCh38)
                                1:1101778 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:1166397:G:A
                                Gene:
                                MIR200A (Varview), MIR200B (Varview), LOC124903818 (Varview)
                                Functional Consequence:
                                upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000042/11 (TOPMED)
                                A=0.00005/7 (GnomAD)
                                HGVS:
                                16.

                                rs1474105387 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  1:1168342 (GRCh38)
                                  1:1103722 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:1168341:G:A
                                  Gene:
                                  MIR200A (Varview), MIR429 (Varview), LOC124903818 (Varview)
                                  Functional Consequence:
                                  2KB_upstream_variant,upstream_transcript_variant,500B_downstream_variant,downstream_transcript_variant,non_coding_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000008/2 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1473785237 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    ->AGC [Show Flanks]
                                    Chromosome:
                                    1:1167823 (GRCh38)
                                    1:1103204 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:1167823:CAGCAGC:CAGCAGCAGC
                                    Gene:
                                    MIR200A (Varview), MIR429 (Varview), LOC124903818 (Varview)
                                    Functional Consequence:
                                    upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
                                    HGVS:
                                    18.

                                    rs1470637461 has merged into rs1049032198 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      G>-,GG [Show Flanks]
                                      Chromosome:
                                      1:1168194 (GRCh38)
                                      1:1103574 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:1168193:GGGGG:GGGG,NC_000001.11:1168193:GGGGG:GGGGGG
                                      Gene:
                                      MIR200A (Varview), MIR429 (Varview), LOC124903818 (Varview)
                                      Functional Consequence:
                                      500B_downstream_variant,non_coding_transcript_variant,upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      GGGGGG=0./0 (ALFA)
                                      -=0.00031/2 (1000Genomes)
                                      HGVS:
                                      19.

                                      rs1470352454 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        C>- [Show Flanks]
                                        Chromosome:
                                        1:1168237 (GRCh38)
                                        1:1103617 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:1168236:CC:C
                                        Gene:
                                        MIR200A (Varview), MIR429 (Varview), LOC124903818 (Varview)
                                        Functional Consequence:
                                        2KB_upstream_variant,upstream_transcript_variant,500B_downstream_variant,downstream_transcript_variant,non_coding_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        CC=0./0 (ALFA)
                                        -=0.000008/2 (TOPMED)
                                        -=0.000014/2 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1468051098 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>C [Show Flanks]
                                          Chromosome:
                                          1:1166832 (GRCh38)
                                          1:1102212 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:1166831:G:C
                                          Gene:
                                          MIR200A (Varview), MIR200B (Varview), LOC124903818 (Varview)
                                          Functional Consequence:
                                          upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000026/7 (TOPMED)
                                          C=0.000029/4 (GnomAD)
                                          HGVS:

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