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Links from Gene

Items: 1 to 20 of 629

1.

rs1489224346 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    14:101052914 (GRCh38)
    14:101519251 (GRCh37)
    Canonical SPDI:
    NC_000014.9:101052913:G:A
    Gene:
    MIR134 (Varview), MIR382 (Varview), MIR487A (Varview)
    Functional Consequence:
    upstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,downstream_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:
    2.

    rs1487717778 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>A [Show Flanks]
      Chromosome:
      14:101054511 (GRCh38)
      14:101520848 (GRCh37)
      Canonical SPDI:
      NC_000014.9:101054510:C:A
      Gene:
      MIR134 (Varview), MIR382 (Varview), MIR323B (Varview), MIR485 (Varview), MIR668 (Varview)
      Functional Consequence:
      upstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0.000066/1 (ALFA)
      A=0.000008/2 (TOPMED)
      A=0.000223/1 (Estonian)
      HGVS:
      3.

      rs1487194286 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>T [Show Flanks]
        Chromosome:
        14:101052982 (GRCh38)
        14:101519319 (GRCh37)
        Canonical SPDI:
        NC_000014.9:101052981:G:T
        Gene:
        MIR134 (Varview), MIR382 (Varview), MIR487A (Varview)
        Functional Consequence:
        upstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        T=0./0 (ALFA)
        HGVS:
        4.

        rs1485956260 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          14:101053802 (GRCh38)
          14:101520139 (GRCh37)
          Canonical SPDI:
          NC_000014.9:101053801:G:A
          Gene:
          MIR134 (Varview), MIR382 (Varview), MIR485 (Varview), MIR668 (Varview)
          Functional Consequence:
          upstream_transcript_variant,2KB_upstream_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.000007/1 (GnomAD)
          A=0.000008/2 (TOPMED)
          HGVS:
          5.

          rs1485885171 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            14:101052773 (GRCh38)
            14:101519110 (GRCh37)
            Canonical SPDI:
            NC_000014.9:101052772:A:G
            Gene:
            MIR134 (Varview), MIR382 (Varview), MIR487A (Varview)
            Functional Consequence:
            upstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            G=0./0 (ALFA)
            G=0.000011/3 (TOPMED)
            HGVS:
            6.

            rs1483628460 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>C,T [Show Flanks]
              Chromosome:
              14:101055068 (GRCh38)
              14:101521405 (GRCh37)
              Canonical SPDI:
              NC_000014.9:101055067:A:C,NC_000014.9:101055067:A:T
              Gene:
              MIR134 (Varview), MIR323B (Varview), MIR485 (Varview), MIR668 (Varview)
              Functional Consequence:
              upstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              C=0.000007/1 (GnomAD)
              HGVS:
              7.

              rs1481730574 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                14:101053729 (GRCh38)
                14:101520066 (GRCh37)
                Canonical SPDI:
                NC_000014.9:101053728:G:A
                Gene:
                MIR134 (Varview), MIR382 (Varview), MIR485 (Varview), MIR668 (Varview)
                Functional Consequence:
                upstream_transcript_variant,2KB_upstream_variant
                Validated:
                by frequency,by alfa
                MAF:
                A=0./0 (ALFA)
                HGVS:
                8.

                rs1479140883 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>A,C [Show Flanks]
                  Chromosome:
                  14:101053366 (GRCh38)
                  14:101519703 (GRCh37)
                  Canonical SPDI:
                  NC_000014.9:101053365:T:A,NC_000014.9:101053365:T:C
                  Gene:
                  MIR134 (Varview), MIR382 (Varview), MIR668 (Varview)
                  Functional Consequence:
                  upstream_transcript_variant,2KB_upstream_variant
                  Validated:
                  by frequency,by cluster
                  MAF:
                  A=0.000007/1 (GnomAD)
                  C=0.000546/1 (Korea1K)
                  HGVS:
                  9.

                  rs1478941695 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>A [Show Flanks]
                    Chromosome:
                    14:101054402 (GRCh38)
                    14:101520739 (GRCh37)
                    Canonical SPDI:
                    NC_000014.9:101054401:C:A
                    Gene:
                    MIR134 (Varview), MIR382 (Varview), MIR323B (Varview), MIR485 (Varview), MIR668 (Varview)
                    Functional Consequence:
                    upstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000007/1 (GnomAD)
                    A=0.000011/3 (TOPMED)
                    A=0.000013/3 (GnomAD_exomes)
                    HGVS:
                    10.

                    rs1478059742 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>G [Show Flanks]
                      Chromosome:
                      14:101055223 (GRCh38)
                      14:101521560 (GRCh37)
                      Canonical SPDI:
                      NC_000014.9:101055222:C:G
                      Gene:
                      MIR134 (Varview), MIR323B (Varview), MIR485 (Varview), MIR668 (Varview)
                      Functional Consequence:
                      upstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant
                      HGVS:
                      11.

                      rs1477981843 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>T [Show Flanks]
                        Chromosome:
                        14:101053591 (GRCh38)
                        14:101519928 (GRCh37)
                        Canonical SPDI:
                        NC_000014.9:101053590:G:T
                        Gene:
                        MIR134 (Varview), MIR382 (Varview), MIR485 (Varview), MIR668 (Varview)
                        Functional Consequence:
                        upstream_transcript_variant,2KB_upstream_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000007/1 (GnomAD)
                        T=0.000008/2 (TOPMED)
                        HGVS:
                        12.

                        rs1477608034 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          14:101052955 (GRCh38)
                          14:101519292 (GRCh37)
                          Canonical SPDI:
                          NC_000014.9:101052954:T:C
                          Gene:
                          MIR134 (Varview), MIR382 (Varview), MIR487A (Varview)
                          Functional Consequence:
                          upstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000014/2 (GnomAD)
                          C=0.00003/8 (TOPMED)
                          HGVS:
                          13.

                          rs1477049030 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>A,G [Show Flanks]
                            Chromosome:
                            14:101053489 (GRCh38)
                            14:101519826 (GRCh37)
                            Canonical SPDI:
                            NC_000014.9:101053488:C:A,NC_000014.9:101053488:C:G
                            Gene:
                            MIR134 (Varview), MIR382 (Varview), MIR485 (Varview), MIR668 (Varview)
                            Functional Consequence:
                            upstream_transcript_variant,2KB_upstream_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000008/2 (TOPMED)
                            HGVS:
                            14.

                            rs1475187738 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>G [Show Flanks]
                              Chromosome:
                              14:101053668 (GRCh38)
                              14:101520005 (GRCh37)
                              Canonical SPDI:
                              NC_000014.9:101053667:T:G
                              Gene:
                              MIR134 (Varview), MIR382 (Varview), MIR485 (Varview), MIR668 (Varview)
                              Functional Consequence:
                              upstream_transcript_variant,2KB_upstream_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000007/1 (GnomAD)
                              HGVS:
                              15.

                              rs1474766405 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                14:101054691 (GRCh38)
                                14:101521028 (GRCh37)
                                Canonical SPDI:
                                NC_000014.9:101054690:G:A
                                Gene:
                                MIR134 (Varview), MIR382 (Varview), MIR323B (Varview), MIR485 (Varview), MIR668 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,downstream_transcript_variant,500B_downstream_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0.000028/1 (ALFA)
                                A=0.000014/2 (GnomAD)
                                A=0.000015/4 (TOPMED)
                                HGVS:
                                16.

                                rs1472319979 [Homo sapiens]
                                  Variant type:
                                  DEL
                                  Alleles:
                                  A>- [Show Flanks]
                                  Chromosome:
                                  14:101053786 (GRCh38)
                                  14:101520123 (GRCh37)
                                  Canonical SPDI:
                                  NC_000014.9:101053785:A:
                                  Gene:
                                  MIR134 (Varview), MIR382 (Varview), MIR485 (Varview), MIR668 (Varview)
                                  Functional Consequence:
                                  upstream_transcript_variant,2KB_upstream_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  -=0./0 (ALFA)
                                  -=0.000014/2 (GnomAD)
                                  -=0.000015/4 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1470906253 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>G [Show Flanks]
                                    Chromosome:
                                    14:101054759 (GRCh38)
                                    14:101521096 (GRCh37)
                                    Canonical SPDI:
                                    NC_000014.9:101054758:C:G
                                    Gene:
                                    MIR134 (Varview), MIR382 (Varview), MIR323B (Varview), MIR485 (Varview), MIR668 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,downstream_transcript_variant,500B_downstream_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000008/2 (GnomAD_exomes)
                                    G=0.000011/3 (TOPMED)
                                    G=0.000021/3 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1470206358 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      14:101053351 (GRCh38)
                                      14:101519688 (GRCh37)
                                      Canonical SPDI:
                                      NC_000014.9:101053350:G:A
                                      Gene:
                                      MIR134 (Varview), MIR382 (Varview), MIR668 (Varview)
                                      Functional Consequence:
                                      upstream_transcript_variant,2KB_upstream_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000007/1 (GnomAD)
                                      A=0.000008/2 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1468991743 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A,C [Show Flanks]
                                        Chromosome:
                                        14:101053846 (GRCh38)
                                        14:101520183 (GRCh37)
                                        Canonical SPDI:
                                        NC_000014.9:101053845:G:A,NC_000014.9:101053845:G:C
                                        Gene:
                                        MIR134 (Varview), MIR382 (Varview), MIR485 (Varview), MIR668 (Varview)
                                        Functional Consequence:
                                        upstream_transcript_variant,2KB_upstream_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0.000224/1 (ALFA)
                                        A=0.000007/1 (GnomAD)
                                        C=0.000106/2 (TOMMO)
                                        C=0.000342/1 (KOREAN)
                                        A=0.000446/2 (Estonian)
                                        HGVS:
                                        20.

                                        rs1468977589 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          14:101053595 (GRCh38)
                                          14:101519932 (GRCh37)
                                          Canonical SPDI:
                                          NC_000014.9:101053594:C:T
                                          Gene:
                                          MIR134 (Varview), MIR382 (Varview), MIR485 (Varview), MIR668 (Varview)
                                          Functional Consequence:
                                          upstream_transcript_variant,2KB_upstream_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000004/1 (TOPMED)
                                          HGVS:

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