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Links from Gene

Items: 1 to 20 of 742

1.

rs1490410162 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    C>- [Show Flanks]
    Chromosome:
    14:101026260 (GRCh38)
    14:101492597 (GRCh37)
    Canonical SPDI:
    NC_000014.9:101026259:CC:C
    Gene:
    MIR323A (Varview), MIR329-1 (Varview), MIR329-2 (Varview), MIR758 (Varview), LOC124903407 (Varview)
    Functional Consequence:
    2KB_upstream_variant,3_prime_UTR_variant,500B_downstream_variant,upstream_transcript_variant,downstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    CC=0./0 (ALFA)
    -=0.000004/1 (TOPMED)
    -=0.000007/1 (GnomAD)
    HGVS:
    2.

    rs1487184015 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      14:101023888 (GRCh38)
      14:101490225 (GRCh37)
      Canonical SPDI:
      NC_000014.9:101023887:G:A
      Gene:
      MIR299 (Varview), MIR323A (Varview), MIR380 (Varview), MIR411 (Varview), MIR1197 (Varview), LOC124903407 (Varview)
      Functional Consequence:
      2KB_upstream_variant,3_prime_UTR_variant,500B_downstream_variant,upstream_transcript_variant,downstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0./0 (ALFA)
      A=0.000007/1 (GnomAD)
      HGVS:
      3.

      rs1485478082 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>T [Show Flanks]
        Chromosome:
        14:101024341 (GRCh38)
        14:101490678 (GRCh37)
        Canonical SPDI:
        NC_000014.9:101024340:G:T
        Gene:
        MIR299 (Varview), MIR323A (Varview), MIR380 (Varview), MIR758 (Varview), MIR1197 (Varview), LOC124903407 (Varview)
        Functional Consequence:
        2KB_upstream_variant,3_prime_UTR_variant,500B_downstream_variant,upstream_transcript_variant,downstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        T=0.000019/5 (TOPMED)
        T=0.000029/4 (GnomAD)
        T=0.000342/1 (KOREAN)
        T=0.000546/1 (Korea1K)
        HGVS:
        4.

        rs1485470803 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>A [Show Flanks]
          Chromosome:
          14:101025254 (GRCh38)
          14:101491591 (GRCh37)
          Canonical SPDI:
          NC_000014.9:101025253:C:A
          Gene:
          MIR323A (Varview), MIR380 (Varview), MIR329-1 (Varview), MIR329-2 (Varview), MIR758 (Varview), MIR1197 (Varview), LOC124903407 (Varview)
          Functional Consequence:
          2KB_upstream_variant,3_prime_UTR_variant,500B_downstream_variant,upstream_transcript_variant,downstream_transcript_variant
          HGVS:
          5.

          rs1485190428 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            14:101024136 (GRCh38)
            14:101490473 (GRCh37)
            Canonical SPDI:
            NC_000014.9:101024135:G:A
            Gene:
            MIR299 (Varview), MIR323A (Varview), MIR380 (Varview), MIR758 (Varview), MIR1197 (Varview), LOC124903407 (Varview)
            Functional Consequence:
            2KB_upstream_variant,3_prime_UTR_variant,500B_downstream_variant,upstream_transcript_variant,downstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0./0 (ALFA)
            A=0.000007/1 (GnomAD)
            A=0.000015/4 (TOPMED)
            HGVS:
            6.

            rs1484498815 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              14:101025475 (GRCh38)
              14:101491812 (GRCh37)
              Canonical SPDI:
              NC_000014.9:101025474:A:G
              Gene:
              MIR323A (Varview), MIR380 (Varview), MIR329-1 (Varview), MIR329-2 (Varview), MIR758 (Varview), MIR1197 (Varview), LOC124903407 (Varview)
              Functional Consequence:
              2KB_upstream_variant,3_prime_UTR_variant,500B_downstream_variant,upstream_transcript_variant,downstream_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              G=0./0 (ALFA)
              G=0.000007/1 (GnomAD)
              HGVS:
              7.

              rs1483583954 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>C,T [Show Flanks]
                Chromosome:
                14:101026041 (GRCh38)
                14:101492378 (GRCh37)
                Canonical SPDI:
                NC_000014.9:101026040:G:C,NC_000014.9:101026040:G:T
                Gene:
                MIR323A (Varview), MIR329-1 (Varview), MIR329-2 (Varview), MIR758 (Varview), MIR1197 (Varview), LOC124903407 (Varview)
                Functional Consequence:
                2KB_upstream_variant,3_prime_UTR_variant,non_coding_transcript_variant,500B_downstream_variant,upstream_transcript_variant,downstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                HGVS:
                8.

                rs1482989653 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  14:101025961 (GRCh38)
                  14:101492298 (GRCh37)
                  Canonical SPDI:
                  NC_000014.9:101025960:C:T
                  Gene:
                  MIR323A (Varview), MIR329-1 (Varview), MIR329-2 (Varview), MIR758 (Varview), MIR1197 (Varview), LOC124903407 (Varview)
                  Functional Consequence:
                  2KB_upstream_variant,3_prime_UTR_variant,500B_downstream_variant,upstream_transcript_variant,downstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000004/1 (TOPMED)
                  T=0.000007/1 (GnomAD)
                  HGVS:
                  9.

                  rs1480802632 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    14:101025659 (GRCh38)
                    14:101491996 (GRCh37)
                    Canonical SPDI:
                    NC_000014.9:101025658:C:T
                    Gene:
                    MIR323A (Varview), MIR329-1 (Varview), MIR329-2 (Varview), MIR758 (Varview), MIR1197 (Varview), LOC124903407 (Varview)
                    Functional Consequence:
                    2KB_upstream_variant,3_prime_UTR_variant,500B_downstream_variant,upstream_transcript_variant,downstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000004/1 (TOPMED)
                    T=0.000007/1 (GnomAD)
                    HGVS:
                    10.

                    rs1480473088 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      14:101025402 (GRCh38)
                      14:101491739 (GRCh37)
                      Canonical SPDI:
                      NC_000014.9:101025401:G:A
                      Gene:
                      MIR323A (Varview), MIR380 (Varview), MIR329-1 (Varview), MIR329-2 (Varview), MIR758 (Varview), MIR1197 (Varview), LOC124903407 (Varview)
                      Functional Consequence:
                      2KB_upstream_variant,3_prime_UTR_variant,500B_downstream_variant,upstream_transcript_variant,downstream_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000004/1 (TOPMED)
                      HGVS:
                      11.

                      rs1478216485 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        14:101026207 (GRCh38)
                        14:101492544 (GRCh37)
                        Canonical SPDI:
                        NC_000014.9:101026206:G:A
                        Gene:
                        MIR323A (Varview), MIR329-1 (Varview), MIR329-2 (Varview), MIR758 (Varview), LOC124903407 (Varview)
                        Functional Consequence:
                        2KB_upstream_variant,3_prime_UTR_variant,500B_downstream_variant,upstream_transcript_variant,downstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0.000142/2 (ALFA)
                        A=0.000019/5 (TOPMED)
                        A=0.000029/4 (GnomAD)
                        HGVS:
                        12.

                        rs1476929501 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A,C [Show Flanks]
                          Chromosome:
                          14:101025119 (GRCh38)
                          14:101491456 (GRCh37)
                          Canonical SPDI:
                          NC_000014.9:101025118:G:A,NC_000014.9:101025118:G:C
                          Gene:
                          MIR323A (Varview), MIR380 (Varview), MIR329-1 (Varview), MIR329-2 (Varview), MIR758 (Varview), MIR1197 (Varview), LOC124903407 (Varview)
                          Functional Consequence:
                          upstream_transcript_variant,2KB_upstream_variant,downstream_transcript_variant,500B_downstream_variant,3_prime_UTR_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000004/1 (TOPMED)
                          A=0.000007/1 (GnomAD)
                          HGVS:
                          13.

                          rs1474879351 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            14:101025888 (GRCh38)
                            14:101492225 (GRCh37)
                            Canonical SPDI:
                            NC_000014.9:101025887:G:A
                            Gene:
                            MIR323A (Varview), MIR329-1 (Varview), MIR329-2 (Varview), MIR758 (Varview), MIR1197 (Varview), LOC124903407 (Varview)
                            Functional Consequence:
                            upstream_transcript_variant,2KB_upstream_variant,downstream_transcript_variant,500B_downstream_variant,3_prime_UTR_variant
                            Validated:
                            by frequency,by cluster
                            MAF:
                            A=0.00004/1 (TOMMO)
                            HGVS:
                            14.

                            rs1474776374 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>C [Show Flanks]
                              Chromosome:
                              14:101024231 (GRCh38)
                              14:101490568 (GRCh37)
                              Canonical SPDI:
                              NC_000014.9:101024230:G:C
                              Gene:
                              MIR299 (Varview), MIR323A (Varview), MIR380 (Varview), MIR758 (Varview), MIR1197 (Varview), LOC124903407 (Varview)
                              Functional Consequence:
                              upstream_transcript_variant,2KB_upstream_variant,downstream_transcript_variant,500B_downstream_variant,3_prime_UTR_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000007/1 (GnomAD)
                              C=0.000008/2 (TOPMED)
                              HGVS:
                              15.

                              rs1474725833 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>A [Show Flanks]
                                Chromosome:
                                14:101025150 (GRCh38)
                                14:101491487 (GRCh37)
                                Canonical SPDI:
                                NC_000014.9:101025149:C:A
                                Gene:
                                MIR323A (Varview), MIR380 (Varview), MIR329-1 (Varview), MIR329-2 (Varview), MIR758 (Varview), MIR1197 (Varview), LOC124903407 (Varview)
                                Functional Consequence:
                                upstream_transcript_variant,2KB_upstream_variant,downstream_transcript_variant,500B_downstream_variant,3_prime_UTR_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000004/1 (TOPMED)
                                HGVS:
                                16.

                                rs1473963455 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  14:101025235 (GRCh38)
                                  14:101491572 (GRCh37)
                                  Canonical SPDI:
                                  NC_000014.9:101025234:C:T
                                  Gene:
                                  MIR323A (Varview), MIR380 (Varview), MIR329-1 (Varview), MIR329-2 (Varview), MIR758 (Varview), MIR1197 (Varview), LOC124903407 (Varview)
                                  Functional Consequence:
                                  upstream_transcript_variant,2KB_upstream_variant,downstream_transcript_variant,500B_downstream_variant,3_prime_UTR_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  T=0.000007/1 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1472434887 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>T [Show Flanks]
                                    Chromosome:
                                    14:101026311 (GRCh38)
                                    14:101492648 (GRCh37)
                                    Canonical SPDI:
                                    NC_000014.9:101026310:G:T
                                    Gene:
                                    MIR323A (Varview), MIR329-1 (Varview), MIR329-2 (Varview), MIR758 (Varview), LOC124903407 (Varview)
                                    Functional Consequence:
                                    upstream_transcript_variant,2KB_upstream_variant,downstream_transcript_variant,500B_downstream_variant,3_prime_UTR_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000007/1 (GnomAD)
                                    T=0.000011/3 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1471455702 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>T [Show Flanks]
                                      Chromosome:
                                      14:101025945 (GRCh38)
                                      14:101492282 (GRCh37)
                                      Canonical SPDI:
                                      NC_000014.9:101025944:A:T
                                      Gene:
                                      MIR323A (Varview), MIR329-1 (Varview), MIR329-2 (Varview), MIR758 (Varview), MIR1197 (Varview), LOC124903407 (Varview)
                                      Functional Consequence:
                                      upstream_transcript_variant,2KB_upstream_variant,downstream_transcript_variant,500B_downstream_variant,3_prime_UTR_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000004/1 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1470831445 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        14:101023752 (GRCh38)
                                        14:101490089 (GRCh37)
                                        Canonical SPDI:
                                        NC_000014.9:101023751:A:G
                                        Gene:
                                        MIR299 (Varview), MIR323A (Varview), MIR380 (Varview), MIR411 (Varview), MIR1197 (Varview), LOC124903407 (Varview)
                                        Functional Consequence:
                                        upstream_transcript_variant,2KB_upstream_variant,downstream_transcript_variant,500B_downstream_variant,3_prime_UTR_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000004/1 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1469370993 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          14:101024043 (GRCh38)
                                          14:101490380 (GRCh37)
                                          Canonical SPDI:
                                          NC_000014.9:101024042:C:T
                                          Gene:
                                          MIR299 (Varview), MIR323A (Varview), MIR380 (Varview), MIR758 (Varview), MIR1197 (Varview), LOC124903407 (Varview)
                                          Functional Consequence:
                                          upstream_transcript_variant,2KB_upstream_variant,downstream_transcript_variant,500B_downstream_variant,3_prime_UTR_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000014/2 (GnomAD)
                                          T=0.000015/4 (TOPMED)
                                          HGVS:

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