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Items: 1 to 20 of 3027

1.

rs1491549772 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    GT>- [Show Flanks]
    Chromosome:
    9:37800648 (GRCh38)
    9:37800645 (GRCh37)
    Canonical SPDI:
    NC_000009.12:37800647:GT:
    Gene:
    DCAF10 (Varview), LOC105376037 (Varview)
    Functional Consequence:
    upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,splice_donor_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    -=0./0 (ALFA)
    -=0.000004/1 (TOPMED)
    -=0.000015/2 (GnomAD_exomes)
    -=0.001092/2 (Korea1K)
    HGVS:
    2.

    rs1491365474 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      ->ACTA [Show Flanks]
      Chromosome:
      9:37800648 (GRCh38)
      9:37800646 (GRCh37)
      Canonical SPDI:
      NC_000009.12:37800648:TAACTA:TAACTAACTA
      Gene:
      DCAF10 (Varview), LOC105376037 (Varview)
      Functional Consequence:
      upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,splice_donor_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      TAACTAACTA=0./0 (ALFA)
      TAAC=0.000007/1 (GnomAD)
      TAAC=0.000008/2 (TOPMED)
      HGVS:
      3.

      rs1491026758 has merged into rs371884745 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
        Chromosome:
        9:37792719 (GRCh38)
        9:37792716 (GRCh37)
        Canonical SPDI:
        NC_000009.12:37792704:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000009.12:37792704:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000009.12:37792704:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000009.12:37792704:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000009.12:37792704:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000009.12:37792704:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000009.12:37792704:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:37792704:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
        Gene:
        LOC105376037 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        TTTTTTTTTTTTTTTTTTTT=0./0 (ALFA)
        T=0.125/1 (KOREAN)
        T=0.356/1783 (1000Genomes)
        T=0.425/17 (GENOME_DK)
        HGVS:
        4.

        rs1490675488 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          9:37800684 (GRCh38)
          9:37800681 (GRCh37)
          Canonical SPDI:
          NC_000009.12:37800683:C:T
          Gene:
          DCAF10 (Varview), LOC105376037 (Varview)
          Functional Consequence:
          genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant,upstream_transcript_variant
          HGVS:
          5.

          rs1490542394 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            9:37796489 (GRCh38)
            9:37796486 (GRCh37)
            Canonical SPDI:
            NC_000009.12:37796488:C:T
            Gene:
            LOC105376037 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            T=0.000004/1 (TOPMED)
            T=0.000007/1 (GnomAD)
            HGVS:
            6.

            rs1490475305 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>G,T [Show Flanks]
              Chromosome:
              9:37795286 (GRCh38)
              9:37795283 (GRCh37)
              Canonical SPDI:
              NC_000009.12:37795285:C:G,NC_000009.12:37795285:C:T
              Gene:
              LOC105376037 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0.000011/3 (TOPMED)
              T=0.000014/2 (GnomAD)
              G=0.000546/1 (Korea1K)
              HGVS:
              8.

              rs1490152831 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                9:37794304 (GRCh38)
                9:37794301 (GRCh37)
                Canonical SPDI:
                NC_000009.12:37794303:A:G
                Gene:
                LOC105376037 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                G=0./0 (ALFA)
                G=0.000009/1 (GnomAD)
                HGVS:
                9.

                rs1489955924 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  9:37793683 (GRCh38)
                  9:37793680 (GRCh37)
                  Canonical SPDI:
                  NC_000009.12:37793682:T:C
                  Gene:
                  LOC105376037 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000007/1 (GnomAD)
                  C=0.000011/3 (TOPMED)
                  HGVS:
                  10.

                  rs1489688054 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    9:37792139 (GRCh38)
                    9:37792136 (GRCh37)
                    Canonical SPDI:
                    NC_000009.12:37792138:A:G
                    Gene:
                    LOC105376037 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000007/1 (GnomAD)
                    HGVS:
                    11.

                    rs1489555042 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      9:37793511 (GRCh38)
                      9:37793508 (GRCh37)
                      Canonical SPDI:
                      NC_000009.12:37793510:C:T
                      Gene:
                      LOC105376037 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000014/2 (GnomAD)
                      HGVS:
                      12.

                      rs1489285166 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>G [Show Flanks]
                        Chromosome:
                        9:37797141 (GRCh38)
                        9:37797138 (GRCh37)
                        Canonical SPDI:
                        NC_000009.12:37797140:T:G
                        Gene:
                        LOC105376037 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000008/2 (TOPMED)
                        G=0.000014/2 (GnomAD)
                        HGVS:
                        13.

                        rs1489192862 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>C [Show Flanks]
                          Chromosome:
                          9:37795965 (GRCh38)
                          9:37795962 (GRCh37)
                          Canonical SPDI:
                          NC_000009.12:37795964:G:C
                          Gene:
                          LOC105376037 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000004/1 (TOPMED)
                          HGVS:
                          14.

                          rs1489191630 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>G [Show Flanks]
                            Chromosome:
                            9:37796393 (GRCh38)
                            9:37796390 (GRCh37)
                            Canonical SPDI:
                            NC_000009.12:37796392:C:G
                            Gene:
                            LOC105376037 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000007/1 (GnomAD)
                            G=0.000008/2 (TOPMED)
                            HGVS:
                            15.

                            rs1488217599 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>C [Show Flanks]
                              Chromosome:
                              9:37795846 (GRCh38)
                              9:37795843 (GRCh37)
                              Canonical SPDI:
                              NC_000009.12:37795845:A:C
                              Gene:
                              LOC105376037 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000004/1 (TOPMED)
                              HGVS:
                              16.

                              rs1487898789 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                9:37799792 (GRCh38)
                                9:37799789 (GRCh37)
                                Canonical SPDI:
                                NC_000009.12:37799791:A:G
                                Gene:
                                DCAF10 (Varview), LOC105376037 (Varview)
                                Functional Consequence:
                                upstream_transcript_variant,intron_variant,2KB_upstream_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000014/2 (GnomAD)
                                HGVS:
                                17.

                                rs1487662425 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>A [Show Flanks]
                                  Chromosome:
                                  9:37797191 (GRCh38)
                                  9:37797188 (GRCh37)
                                  Canonical SPDI:
                                  NC_000009.12:37797190:C:A
                                  Gene:
                                  LOC105376037 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  A=0.000007/1 (GnomAD)
                                  HGVS:
                                  18.

                                  rs1487638407 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>A [Show Flanks]
                                    Chromosome:
                                    9:37791333 (GRCh38)
                                    9:37791330 (GRCh37)
                                    Canonical SPDI:
                                    NC_000009.12:37791332:T:A
                                    Gene:
                                    LOC105376037 (Varview)
                                    Functional Consequence:
                                    intron_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.

                                    rs1487605210 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      9:37792490 (GRCh38)
                                      9:37792487 (GRCh37)
                                      Canonical SPDI:
                                      NC_000009.12:37792489:G:A
                                      Gene:
                                      LOC105376037 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000004/1 (TOPMED)
                                      HGVS:
                                      20.

                                      rs1487333088 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>G [Show Flanks]
                                        Chromosome:
                                        9:37798275 (GRCh38)
                                        9:37798272 (GRCh37)
                                        Canonical SPDI:
                                        NC_000009.12:37798274:C:G
                                        Gene:
                                        LOC105376037 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000007/1 (GnomAD)
                                        HGVS:

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