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Items: 1 to 20 of 2473

1.

rs1490937889 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    19:44113100 (GRCh38)
    19:44617253 (GRCh37)
    Canonical SPDI:
    NC_000019.10:44113099:C:T
    Gene:
    ZNF225 (Varview), ZNF225-AS1 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
    Validated:
    by frequency,by alfa
    MAF:
    T=0./0 (ALFA)
    T=0.000004/1 (TOPMED)
    HGVS:
    2.

    rs1490811458 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      19:44105495 (GRCh38)
      19:44609648 (GRCh37)
      Canonical SPDI:
      NC_000019.10:44105494:G:A
      Gene:
      ZNF224 (Varview), ZNF225-AS1 (Varview)
      Functional Consequence:
      non_coding_transcript_variant,intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0./0 (ALFA)
      A=0.000019/5 (TOPMED)
      A=0.000022/3 (GnomAD)
      HGVS:
      3.

      rs1490446658 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>C [Show Flanks]
        Chromosome:
        19:44112534 (GRCh38)
        19:44616687 (GRCh37)
        Canonical SPDI:
        NC_000019.10:44112533:A:C
        Gene:
        ZNF225 (Varview), ZNF225-AS1 (Varview)
        Functional Consequence:
        upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0./0 (ALFA)
        C=0.000021/3 (GnomAD)
        C=0.000023/6 (TOPMED)
        HGVS:
        4.

        rs1489687627 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          19:44111982 (GRCh38)
          19:44616135 (GRCh37)
          Canonical SPDI:
          NC_000019.10:44111981:A:G
          Gene:
          ZNF225 (Varview), ZNF225-AS1 (Varview)
          Functional Consequence:
          5_prime_UTR_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0.000071/1 (ALFA)
          G=0.000015/4 (TOPMED)
          G=0.000029/4 (GnomAD)
          HGVS:
          5.

          rs1488920597 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>C [Show Flanks]
            Chromosome:
            19:44107802 (GRCh38)
            19:44611955 (GRCh37)
            Canonical SPDI:
            NC_000019.10:44107801:A:C
            Gene:
            ZNF224 (Varview), ZNF225-AS1 (Varview)
            Functional Consequence:
            non_coding_transcript_variant,missense_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0.000071/1 (ALFA)
            C=0.000004/1 (TOPMED)
            C=0.000014/2 (GnomAD)
            HGVS:
            6.

            rs1488520041 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>G [Show Flanks]
              Chromosome:
              19:44110622 (GRCh38)
              19:44614775 (GRCh37)
              Canonical SPDI:
              NC_000019.10:44110621:T:G
              Gene:
              ZNF225 (Varview), ZNF225-AS1 (Varview)
              Functional Consequence:
              2KB_upstream_variant,upstream_transcript_variant,intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0.02074/246 (ALFA)
              G=0.013/38 (KOREAN)
              T=0.4375/14 (SGDP_PRJ)
              HGVS:
              7.

              rs1488193953 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                19:44110269 (GRCh38)
                19:44614422 (GRCh37)
                Canonical SPDI:
                NC_000019.10:44110268:T:C
                Gene:
                ZNF224 (Varview), ZNF225 (Varview), ZNF225-AS1 (Varview)
                Functional Consequence:
                2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant,upstream_transcript_variant,intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0.000071/1 (ALFA)
                C=0.000007/1 (GnomAD)
                C=0.000008/2 (TOPMED)
                HGVS:
                8.

                rs1488160648 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  GT>- [Show Flanks]
                  Chromosome:
                  19:44111071 (GRCh38)
                  19:44615224 (GRCh37)
                  Canonical SPDI:
                  NC_000019.10:44111067:TGTGT:TGT
                  Gene:
                  ZNF225 (Varview), ZNF225-AS1 (Varview)
                  Functional Consequence:
                  2KB_upstream_variant,upstream_transcript_variant,intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  TGT=0./0 (ALFA)
                  -=0.000007/1 (GnomAD)
                  -=0.000015/4 (TOPMED)
                  HGVS:
                  9.

                  rs1487857469 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    19:44113983 (GRCh38)
                    19:44618136 (GRCh37)
                    Canonical SPDI:
                    NC_000019.10:44113982:C:T
                    Gene:
                    ZNF225 (Varview), ZNF225-AS1 (Varview)
                    Functional Consequence:
                    2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_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.

                    rs1487842639 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      19:44110932 (GRCh38)
                      19:44615085 (GRCh37)
                      Canonical SPDI:
                      NC_000019.10:44110931:G:A
                      Gene:
                      ZNF225 (Varview), ZNF225-AS1 (Varview)
                      Functional Consequence:
                      2KB_upstream_variant,upstream_transcript_variant,intron_variant
                      Validated:
                      by frequency
                      MAF:
                      A=0.000007/1 (GnomAD)
                      HGVS:
                      11.

                      rs1487181570 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        19:44110739 (GRCh38)
                        19:44614892 (GRCh37)
                        Canonical SPDI:
                        NC_000019.10:44110738:C:T
                        Gene:
                        ZNF225 (Varview), ZNF225-AS1 (Varview)
                        Functional Consequence:
                        2KB_upstream_variant,upstream_transcript_variant,intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000015/4 (TOPMED)
                        HGVS:
                        12.

                        rs1486809358 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          TG>- [Show Flanks]
                          Chromosome:
                          19:44109774 (GRCh38)
                          19:44613927 (GRCh37)
                          Canonical SPDI:
                          NC_000019.10:44109771:TGTG:TG
                          Gene:
                          ZNF224 (Varview), ZNF225 (Varview), ZNF225-AS1 (Varview)
                          Functional Consequence:
                          2KB_upstream_variant,intron_variant,upstream_transcript_variant,3_prime_UTR_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          TGTG=0.000071/1 (ALFA)
                          -=0.000004/1 (TOPMED)
                          -=0.000007/1 (GnomAD)
                          -=0.000035/1 (TOMMO)
                          HGVS:
                          13.

                          rs1486604056 [Homo sapiens]
                            Variant type:
                            DEL
                            Alleles:
                            TA>- [Show Flanks]
                            Chromosome:
                            19:44109205 (GRCh38)
                            19:44613358 (GRCh37)
                            Canonical SPDI:
                            NC_000019.10:44109204:TA:
                            Gene:
                            ZNF224 (Varview), ZNF225-AS1 (Varview)
                            Functional Consequence:
                            intron_variant,3_prime_UTR_variant
                            Validated:
                            by frequency
                            MAF:
                            -=0.000007/1 (GnomAD)
                            HGVS:
                            14.

                            rs1486488037 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              19:44105043 (GRCh38)
                              19:44609196 (GRCh37)
                              Canonical SPDI:
                              NC_000019.10:44105042:C:T
                              Gene:
                              ZNF224 (Varview), ZNF225-AS1 (Varview)
                              Functional Consequence:
                              downstream_transcript_variant,intron_variant,500B_downstream_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000026/7 (TOPMED)
                              HGVS:
                              15.

                              rs1486447978 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                T>- [Show Flanks]
                                Chromosome:
                                19:44105851 (GRCh38)
                                19:44610004 (GRCh37)
                                Canonical SPDI:
                                NC_000019.10:44105850:TTTTTTT:TTTTTT
                                Gene:
                                ZNF224 (Varview), ZNF225-AS1 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                TTTTTT=0.000142/2 (ALFA)
                                -=0.000045/12 (TOPMED)
                                -=0.000078/11 (GnomAD)
                                HGVS:
                                16.

                                rs1486327383 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>G [Show Flanks]
                                  Chromosome:
                                  19:44107276 (GRCh38)
                                  19:44611429 (GRCh37)
                                  Canonical SPDI:
                                  NC_000019.10:44107275:T:G
                                  Gene:
                                  ZNF224 (Varview), ZNF225-AS1 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,stop_gained,coding_sequence_variant
                                  Validated:
                                  by frequency,by cluster
                                  MAF:
                                  G=0.000007/1 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1486277971 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    19:44108106 (GRCh38)
                                    19:44612259 (GRCh37)
                                    Canonical SPDI:
                                    NC_000019.10:44108105:A:G
                                    Gene:
                                    ZNF224 (Varview), ZNF225-AS1 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,missense_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000004/1 (TOPMED)
                                    G=0.000007/1 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1485891244 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      19:44113163 (GRCh38)
                                      19:44617316 (GRCh37)
                                      Canonical SPDI:
                                      NC_000019.10:44113162:G:A
                                      Gene:
                                      ZNF225 (Varview), ZNF225-AS1 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      A=0.000071/1 (ALFA)
                                      A=0.000011/3 (TOPMED)
                                      HGVS:
                                      20.

                                      rs1485480276 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        19:44105792 (GRCh38)
                                        19:44609945 (GRCh37)
                                        Canonical SPDI:
                                        NC_000019.10:44105791:C:T
                                        Gene:
                                        ZNF224 (Varview), ZNF225-AS1 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0.000142/2 (ALFA)
                                        T=0.000064/9 (GnomAD)
                                        T=0.000072/19 (TOPMED)
                                        T=0.000156/1 (1000Genomes)
                                        HGVS:

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