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Items: 1 to 20 of 5738

1.

rs1491040940 has merged into rs143634480 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    AT>-,ATAT,ATATAT,ATATATAT [Show Flanks]
    Chromosome:
    19:56543390 (GRCh38)
    19:57054759 (GRCh37)
    Canonical SPDI:
    NC_000019.10:56543380:TATATATATAT:TATATATAT,NC_000019.10:56543380:TATATATATAT:TATATATATATAT,NC_000019.10:56543380:TATATATATAT:TATATATATATATAT,NC_000019.10:56543380:TATATATATAT:TATATATATATATATAT
    Gene:
    ZFP28 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TATATATATATATAT=0./0 (ALFA)
    TA=0.2/8 (GENOME_DK)
    TA=0.227296/876 (ALSPAC)
    TA=0.231931/860 (TWINSUK)
    TA=0.275/165 (NorthernSweden)
    TA=0.292603/77449 (TOPMED)
    TA=0.366813/1837 (1000Genomes)
    HGVS:
    2.

    rs1490829806 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      19:56542856 (GRCh38)
      19:57054225 (GRCh37)
      Canonical SPDI:
      NC_000019.10:56542855:C:T
      Gene:
      ZFP28 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      T=0.000071/1 (ALFA)
      T=0.000004/1 (TOPMED)
      HGVS:
      3.

      rs1490800673 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        19:56545735 (GRCh38)
        19:57057104 (GRCh37)
        Canonical SPDI:
        NC_000019.10:56545734:G:A
        Gene:
        ZFP28 (Varview), ZNF470-DT (Varview)
        Functional Consequence:
        intron_variant,3_prime_UTR_variant
        Validated:
        by frequency
        MAF:
        A=0.000007/1 (GnomAD)
        HGVS:
        4.

        rs1490378313 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          19:56546428 (GRCh38)
          19:57057797 (GRCh37)
          Canonical SPDI:
          NC_000019.10:56546427:G:A
          Gene:
          ZFP28 (Varview), ZNF470-DT (Varview)
          Functional Consequence:
          intron_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:
          5.

          rs1490316656 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>T [Show Flanks]
            Chromosome:
            19:56538193 (GRCh38)
            19:57049562 (GRCh37)
            Canonical SPDI:
            NC_000019.10:56538192:G:T
            Gene:
            ZFP28 (Varview), ZFP28-DT (Varview)
            Functional Consequence:
            upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
            Validated:
            by frequency,by cluster
            MAF:
            T=0.00018/3 (TOMMO)
            T=0.00068/2 (KOREAN)
            T=0.00109/2 (Korea1K)
            HGVS:
            6.

            rs1490300322 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              19:56539311 (GRCh38)
              19:57050680 (GRCh37)
              Canonical SPDI:
              NC_000019.10:56539310:G:A
              Gene:
              ZFP28 (Varview), ZFP28-DT (Varview)
              Functional Consequence:
              2KB_upstream_variant,5_prime_UTR_variant,upstream_transcript_variant,intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              A=0./0 (ALFA)
              A=0.000004/1 (TOPMED)
              HGVS:
              7.

              rs1490279651 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                19:56555262 (GRCh38)
                19:57066631 (GRCh37)
                Canonical SPDI:
                NC_000019.10:56555261:C:T
                Gene:
                ZFP28 (Varview), ZNF470-DT (Varview)
                Functional Consequence:
                genic_downstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                T=0.000004/1 (TOPMED)
                T=0.000007/1 (GnomAD)
                HGVS:
                8.

                rs1489987219 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>A,G [Show Flanks]
                  Chromosome:
                  19:56546332 (GRCh38)
                  19:57057701 (GRCh37)
                  Canonical SPDI:
                  NC_000019.10:56546331:C:A,NC_000019.10:56546331:C:G
                  Gene:
                  ZFP28 (Varview), ZNF470-DT (Varview)
                  Functional Consequence:
                  intron_variant,3_prime_UTR_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  HGVS:
                  9.

                  rs1489870798 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>A,G [Show Flanks]
                    Chromosome:
                    19:56549494 (GRCh38)
                    19:57060863 (GRCh37)
                    Canonical SPDI:
                    NC_000019.10:56549493:T:A,NC_000019.10:56549493:T:G
                    Gene:
                    ZFP28 (Varview), ZNF470-DT (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0.002205/36 (ALFA)
                    A=0.000008/2 (TOPMED)
                    G=0.000354/10 (TOMMO)
                    HGVS:
                    10.

                    rs1489811133 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A,T [Show Flanks]
                      Chromosome:
                      19:56539014 (GRCh38)
                      19:57050383 (GRCh37)
                      Canonical SPDI:
                      NC_000019.10:56539013:G:A,NC_000019.10:56539013:G:T
                      Gene:
                      ZFP28 (Varview), ZFP28-DT (Varview)
                      Functional Consequence:
                      2KB_upstream_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,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:
                      11.

                      rs1489712156 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>A [Show Flanks]
                        Chromosome:
                        19:56550211 (GRCh38)
                        19:57061580 (GRCh37)
                        Canonical SPDI:
                        NC_000019.10:56550210:C:A
                        Gene:
                        ZFP28 (Varview), ZNF470-DT (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        A=0.00007/1 (ALFA)
                        HGVS:
                        12.

                        rs1489246601 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          19:56556959 (GRCh38)
                          19:57068328 (GRCh37)
                          Canonical SPDI:
                          NC_000019.10:56556958:G:A
                          Gene:
                          ZFP28 (Varview), ZNF470-DT (Varview)
                          Functional Consequence:
                          intron_variant,downstream_transcript_variant,500B_downstream_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000007/1 (GnomAD)
                          A=0.000015/4 (TOPMED)
                          HGVS:
                          13.

                          rs1489111133 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            19:56540577 (GRCh38)
                            19:57051946 (GRCh37)
                            Canonical SPDI:
                            NC_000019.10:56540576:T:C
                            Gene:
                            ZFP28 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000004/1 (TOPMED)
                            C=0.000007/1 (GnomAD)
                            HGVS:
                            14.

                            rs1489094902 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>C [Show Flanks]
                              Chromosome:
                              19:56559565 (GRCh38)
                              19:57070934 (GRCh37)
                              Canonical SPDI:
                              NC_000019.10:56559564:A:C
                              Gene:
                              ZNF470-DT (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0.000071/1 (ALFA)
                              C=0.000014/2 (GnomAD)
                              C=0.000019/5 (TOPMED)
                              HGVS:
                              15.

                              rs1489069955 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                19:56555393 (GRCh38)
                                19:57066762 (GRCh37)
                                Canonical SPDI:
                                NC_000019.10:56555392:C:T
                                Gene:
                                ZFP28 (Varview), ZNF470-DT (Varview)
                                Functional Consequence:
                                intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000008/2 (GnomAD_exomes)
                                T=0.000015/4 (TOPMED)
                                HGVS:
                                16.

                                rs1488937646 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  19:56538795 (GRCh38)
                                  19:57050164 (GRCh37)
                                  Canonical SPDI:
                                  NC_000019.10:56538794:G:A
                                  Gene:
                                  ZFP28 (Varview), ZFP28-DT (Varview)
                                  Functional Consequence:
                                  2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0.00126/15 (ALFA)
                                  A=0.00027/27 (GnomAD)
                                  A=0.00082/12 (TOMMO)
                                  HGVS:
                                  17.

                                  rs1488937444 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    19:56552819 (GRCh38)
                                    19:57064188 (GRCh37)
                                    Canonical SPDI:
                                    NC_000019.10:56552818:C:T
                                    Gene:
                                    ZFP28 (Varview), ZNF470-DT (Varview)
                                    Functional Consequence:
                                    intron_variant,3_prime_UTR_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000008/2 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1488627174 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      19:56548145 (GRCh38)
                                      19:57059514 (GRCh37)
                                      Canonical SPDI:
                                      NC_000019.10:56548144:G:A
                                      Gene:
                                      ZFP28 (Varview), ZNF470-DT (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.

                                      rs1488588258 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>A [Show Flanks]
                                        Chromosome:
                                        19:56547653 (GRCh38)
                                        19:57059022 (GRCh37)
                                        Canonical SPDI:
                                        NC_000019.10:56547652:T:A
                                        Gene:
                                        ZFP28 (Varview), ZNF470-DT (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)
                                        A=0.000008/2 (GnomAD_exomes)
                                        HGVS:
                                        20.

                                        rs1488533564 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>A,G,T [Show Flanks]
                                          Chromosome:
                                          19:56557043 (GRCh38)
                                          19:57068412 (GRCh37)
                                          Canonical SPDI:
                                          NC_000019.10:56557042:C:A,NC_000019.10:56557042:C:G,NC_000019.10:56557042:C:T
                                          Gene:
                                          ZFP28 (Varview), ZNF470-DT (Varview)
                                          Functional Consequence:
                                          intron_variant,downstream_transcript_variant,500B_downstream_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000036/5 (GnomAD)
                                          T=0.000312/2 (1000Genomes)
                                          HGVS:

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