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Items: 1 to 20 of 660

1.

rs1489502863 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>T [Show Flanks]
    Chromosome:
    22:21653189 (GRCh38)
    22:22007478 (GRCh37)
    Canonical SPDI:
    NC_000022.11:21653188:G:T
    Gene:
    MIR130B (Varview), MIR301B (Varview), LOC107985532 (Varview)
    Functional Consequence:
    intron_variant,500B_downstream_variant,downstream_transcript_variant,upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    T=0.00003/8 (TOPMED)
    T=0.000036/5 (GnomAD)
    HGVS:
    2.

    rs1489024935 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      22:21651449 (GRCh38)
      22:22005738 (GRCh37)
      Canonical SPDI:
      NC_000022.11:21651448:C:T
      Gene:
      MIR130B (Varview), MIR301B (Varview), LOC107985532 (Varview)
      Functional Consequence:
      2KB_upstream_variant,upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      T=0.000011/3 (TOPMED)
      T=0.000672/11 (TOMMO)
      T=0.001092/2 (Korea1K)
      T=0.004107/12 (KOREAN)
      C=0.5/2 (SGDP_PRJ)
      HGVS:
      3.

      rs1486532785 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>G [Show Flanks]
        Chromosome:
        22:21653380 (GRCh38)
        22:22007669 (GRCh37)
        Canonical SPDI:
        NC_000022.11:21653379:C:G
        Gene:
        MIR130B (Varview), MIR301B (Varview), LOC107985532 (Varview)
        Functional Consequence:
        non_coding_transcript_variant,downstream_transcript_variant,genic_upstream_transcript_variant,500B_downstream_variant
        Validated:
        by frequency,by alfa
        MAF:
        G=0./0 (ALFA)
        G=0.000004/1 (TOPMED)
        HGVS:
        4.

        rs1483452151 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A,C,T [Show Flanks]
          Chromosome:
          22:21651501 (GRCh38)
          22:22005790 (GRCh37)
          Canonical SPDI:
          NC_000022.11:21651500:G:A,NC_000022.11:21651500:G:C,NC_000022.11:21651500:G:T
          Gene:
          MIR130B (Varview), MIR301B (Varview), LOC107985532 (Varview)
          Functional Consequence:
          2KB_upstream_variant,upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0.000071/1 (ALFA)
          A=0.000004/1 (TOPMED)
          A=0.000014/2 (GnomAD)
          T=0.000035/1 (TOMMO)
          C=0.000684/2 (KOREAN)
          HGVS:
          5.

          rs1483340109 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            ->C [Show Flanks]
            Chromosome:
            22:21651722 (GRCh38)
            22:22006012 (GRCh37)
            Canonical SPDI:
            NC_000022.11:21651722:CCC:CCCC
            Gene:
            MIR130B (Varview), MIR301B (Varview), LOC107985532 (Varview)
            Functional Consequence:
            2KB_upstream_variant,upstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            CCCC=0./0 (ALFA)
            C=0.000004/1 (TOPMED)
            C=0.000007/1 (GnomAD)
            HGVS:
            6.

            rs1482973343 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              22:21652107 (GRCh38)
              22:22006396 (GRCh37)
              Canonical SPDI:
              NC_000022.11:21652106:G:A
              Gene:
              MIR130B (Varview), MIR301B (Varview), LOC107985532 (Varview)
              Functional Consequence:
              2KB_upstream_variant,upstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0.000071/1 (ALFA)
              A=0.000004/1 (TOPMED)
              A=0.000007/1 (GnomAD)
              HGVS:
              7.

              rs1482958948 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>A [Show Flanks]
                Chromosome:
                22:21652975 (GRCh38)
                22:22007264 (GRCh37)
                Canonical SPDI:
                NC_000022.11:21652974:C:A
                Gene:
                MIR130B (Varview), MIR301B (Varview), LOC107985532 (Varview)
                Functional Consequence:
                2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0./0 (ALFA)
                A=0.000015/4 (TOPMED)
                HGVS:
                8.

                rs1482350687 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  22:21652133 (GRCh38)
                  22:22006422 (GRCh37)
                  Canonical SPDI:
                  NC_000022.11:21652132:A:G
                  Gene:
                  MIR130B (Varview), MIR301B (Varview), LOC107985532 (Varview)
                  Functional Consequence:
                  2KB_upstream_variant,upstream_transcript_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000007/1 (GnomAD)
                  HGVS:
                  9.

                  rs1482279501 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    22:21652943 (GRCh38)
                    22:22007232 (GRCh37)
                    Canonical SPDI:
                    NC_000022.11:21652942:C:T
                    Gene:
                    MIR130B (Varview), MIR301B (Varview), LOC107985532 (Varview)
                    Functional Consequence:
                    2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant,upstream_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.

                    rs1481800936 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>A [Show Flanks]
                      Chromosome:
                      22:21653099 (GRCh38)
                      22:22007388 (GRCh37)
                      Canonical SPDI:
                      NC_000022.11:21653098:C:A
                      Gene:
                      MIR130B (Varview), MIR301B (Varview), LOC107985532 (Varview)
                      Functional Consequence:
                      intron_variant,500B_downstream_variant,downstream_transcript_variant,upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000004/1 (TOPMED)
                      A=0.000035/1 (TOMMO)
                      HGVS:
                      11.

                      rs1481102796 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        22:21652843 (GRCh38)
                        22:22007132 (GRCh37)
                        Canonical SPDI:
                        NC_000022.11:21652842:T:C
                        Gene:
                        MIR130B (Varview), MIR301B (Varview), LOC107985532 (Varview)
                        Functional Consequence:
                        2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0.000142/2 (ALFA)
                        C=0.000007/1 (GnomAD)
                        C=0.000011/3 (TOPMED)
                        HGVS:
                        12.

                        rs1476140268 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          22:21653563 (GRCh38)
                          22:22007852 (GRCh37)
                          Canonical SPDI:
                          NC_000022.11:21653562:T:C
                          Gene:
                          MIR130B (Varview), LOC107985532 (Varview)
                          Functional Consequence:
                          downstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,500B_downstream_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          C=0./0 (ALFA)
                          HGVS:
                          13.

                          rs1475305590 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>G [Show Flanks]
                            Chromosome:
                            22:21653621 (GRCh38)
                            22:22007910 (GRCh37)
                            Canonical SPDI:
                            NC_000022.11:21653620:C:G
                            Gene:
                            MIR130B (Varview), LOC107985532 (Varview)
                            Functional Consequence:
                            downstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,500B_downstream_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000007/1 (GnomAD)
                            HGVS:
                            14.

                            rs1473916012 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              22:21653361 (GRCh38)
                              22:22007650 (GRCh37)
                              Canonical SPDI:
                              NC_000022.11:21653360:A:G
                              Gene:
                              MIR130B (Varview), MIR301B (Varview), LOC107985532 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,downstream_transcript_variant,genic_upstream_transcript_variant,500B_downstream_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000008/2 (TOPMED)
                              HGVS:
                              15.

                              rs1473709531 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                22:21653308 (GRCh38)
                                22:22007597 (GRCh37)
                                Canonical SPDI:
                                NC_000022.11:21653307:T:C
                                Gene:
                                MIR130B (Varview), MIR301B (Varview), LOC107985532 (Varview)
                                Functional Consequence:
                                intron_variant,500B_downstream_variant,downstream_transcript_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
                                Validated:
                                by frequency,by cluster
                                MAF:
                                C=0.000004/1 (GnomAD_exomes)
                                C=0.002193/4 (Korea1K)
                                HGVS:
                                16.

                                rs1473390294 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  22:21651535 (GRCh38)
                                  22:22005824 (GRCh37)
                                  Canonical SPDI:
                                  NC_000022.11:21651534:C:T
                                  Gene:
                                  MIR130B (Varview), MIR301B (Varview), LOC107985532 (Varview)
                                  Functional Consequence:
                                  2KB_upstream_variant,upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  T=0.00007/1 (ALFA)
                                  HGVS:
                                  17.

                                  rs1472906824 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    22:21651800 (GRCh38)
                                    22:22006089 (GRCh37)
                                    Canonical SPDI:
                                    NC_000022.11:21651799:G:A
                                    Gene:
                                    MIR130B (Varview), MIR301B (Varview), LOC107985532 (Varview)
                                    Functional Consequence:
                                    2KB_upstream_variant,upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000004/1 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1472644097 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      22:21651888 (GRCh38)
                                      22:22006177 (GRCh37)
                                      Canonical SPDI:
                                      NC_000022.11:21651887:G:A
                                      Gene:
                                      MIR130B (Varview), MIR301B (Varview), LOC107985532 (Varview)
                                      Functional Consequence:
                                      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:
                                      19.

                                      rs1472364734 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        22:21653265 (GRCh38)
                                        22:22007554 (GRCh37)
                                        Canonical SPDI:
                                        NC_000022.11:21653264:C:T
                                        Gene:
                                        MIR130B (Varview), MIR301B (Varview), LOC107985532 (Varview)
                                        Functional Consequence:
                                        intron_variant,500B_downstream_variant,downstream_transcript_variant,upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant
                                        HGVS:
                                        20.

                                        rs1471918882 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>G [Show Flanks]
                                          Chromosome:
                                          22:21652175 (GRCh38)
                                          22:22006464 (GRCh37)
                                          Canonical SPDI:
                                          NC_000022.11:21652174:C:G
                                          Gene:
                                          MIR130B (Varview), MIR301B (Varview), LOC107985532 (Varview)
                                          Functional Consequence:
                                          2KB_upstream_variant,upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          G=0./0 (ALFA)
                                          HGVS:

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