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Items: 1 to 20 of 1806

1.

rs731545 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>A,G [Show Flanks]
    Chromosome:
    22:23752289 (GRCh38)
    22:24094476 (GRCh37)
    Canonical SPDI:
    NC_000022.11:23752288:T:A,NC_000022.11:23752288:T:G
    Gene:
    ZNF70 (Varview), VPREB3 (Varview)
    Functional Consequence:
    2KB_upstream_variant,upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0.324993/7170 (ALFA)
    T=0.268293/110 (SGDP_PRJ)
    T=0.268667/4503 (TOMMO)
    T=0.280546/822 (KOREAN)
    T=0.302948/555 (Korea1K)
    G=0.325/13 (GENOME_DK)
    G=0.34933/1565 (Estonian)
    G=0.367584/1363 (TWINSUK)
    T=0.368421/14 (Siberian)
    G=0.371743/371 (GoNL)
    G=0.380903/1468 (ALSPAC)
    T=0.402295/31313 (PAGE_STUDY)
    T=0.437695/2192 (1000Genomes)
    G=0.445/267 (NorthernSweden)
    G=0.462963/100 (Qatari)
    T=0.493472/130617 (TOPMED)
    HGVS:
    2.

    rs1076123 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      22:23754596 (GRCh38)
      22:24096783 (GRCh37)
      Canonical SPDI:
      NC_000022.11:23754595:T:C
      Gene:
      VPREB3 (Varview)
      Functional Consequence:
      2KB_upstream_variant,upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0.139229/34358 (ALFA)
      C=0.095238/4 (PRJEB36033)
      C=0.103834/65 (Chileans)
      C=0.120982/542 (Estonian)
      C=0.125/5 (GENOME_DK)
      C=0.132686/492 (TWINSUK)
      C=0.141283/141 (GoNL)
      C=0.141671/546 (ALSPAC)
      C=0.157407/34 (Qatari)
      C=0.188333/113 (NorthernSweden)
      C=0.205821/28843 (GnomAD)
      C=0.209649/55492 (TOPMED)
      C=0.213052/444 (HGDP_Stanford)
      C=0.24594/1232 (1000Genomes)
      C=0.252053/19832 (PAGE_STUDY)
      C=0.289228/4847 (TOMMO)
      C=0.292031/535 (Korea1K)
      C=0.294393/63 (Vietnamese)
      C=0.295222/865 (KOREAN)
      C=0.296081/559 (HapMap)
      C=0.302632/230 (PRJEB37584)
      T=0.375/9 (Siberian)
      T=0.425/102 (SGDP_PRJ)
      HGVS:
      3.

      rs2070452 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>A,T [Show Flanks]
        Chromosome:
        22:23752649 (GRCh38)
        22:24094836 (GRCh37)
        Canonical SPDI:
        NC_000022.11:23752648:C:A,NC_000022.11:23752648:C:T
        Gene:
        ZNF70 (Varview), VPREB3 (Varview)
        Functional Consequence:
        2KB_upstream_variant,upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0.093913/12374 (ALFA)
        T=0.032407/7 (Qatari)
        T=0.071161/38 (MGP)
        T=0.111161/498 (Estonian)
        T=0.112451/15756 (GnomAD)
        T=0.114887/426 (TWINSUK)
        T=0.117281/452 (ALSPAC)
        T=0.123246/123 (GoNL)
        T=0.125/5 (GENOME_DK)
        T=0.142178/269 (HapMap)
        T=0.14772/740 (1000Genomes)
        T=0.178333/107 (NorthernSweden)
        T=0.289334/4849 (TOMMO)
        T=0.292576/536 (Korea1K)
        T=0.294057/861 (KOREAN)
        T=0.3/63 (Vietnamese)
        C=0.375/9 (Siberian)
        C=0.413793/72 (SGDP_PRJ)
        HGVS:
        4.

        rs2070453 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>A,G [Show Flanks]
          Chromosome:
          22:23754213 (GRCh38)
          22:24096400 (GRCh37)
          Canonical SPDI:
          NC_000022.11:23754212:T:A,NC_000022.11:23754212:T:G
          Gene:
          VPREB3 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0.112424/19320 (ALFA)
          G=0.02809/15 (MGP)
          G=0.08517/85 (GoNL)
          G=0.093042/345 (TWINSUK)
          G=0.099896/385 (ALSPAC)
          G=0.1/4 (GENOME_DK)
          G=0.125/75 (NorthernSweden)
          G=0.145601/652 (Estonian)
          G=0.152778/33 (Qatari)
          G=0.162934/43127 (TOPMED)
          G=0.203919/385 (HapMap)
          G=0.218613/1095 (1000Genomes)
          G=0.228249/17866 (PAGE_STUDY)
          G=0.356522/246 (PRJEB37584)
          T=0.382353/78 (SGDP_PRJ)
          G=0.385917/707 (Korea1K)
          G=0.400341/1173 (KOREAN)
          T=0.5/6 (Siberian)
          HGVS:
          5.

          rs2070454 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>C [Show Flanks]
            Chromosome:
            22:23754487 (GRCh38)
            22:24096674 (GRCh37)
            Canonical SPDI:
            NC_000022.11:23754486:A:C
            Gene:
            VPREB3 (Varview)
            Functional Consequence:
            2KB_upstream_variant,upstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0.111049/21908 (ALFA)
            C=0.001873/1 (MGP)
            C=0.02381/2 (PRJEB36033)
            C=0.08517/85 (GoNL)
            C=0.091845/12876 (GnomAD)
            C=0.093581/347 (TWINSUK)
            C=0.099256/26272 (TOPMED)
            C=0.1/4 (GENOME_DK)
            C=0.100156/386 (ALSPAC)
            C=0.126667/76 (NorthernSweden)
            C=0.134259/29 (Qatari)
            C=0.147768/662 (Estonian)
            C=0.147992/280 (HapMap)
            C=0.152717/765 (1000Genomes)
            C=0.182821/381 (HGDP_Stanford)
            C=0.350467/75 (Vietnamese)
            A=0.382022/68 (SGDP_PRJ)
            C=0.386463/708 (Korea1K)
            C=0.403754/1183 (KOREAN)
            C=0.408698/6850 (TOMMO)
            A=0.5/6 (Siberian)
            HGVS:
            6.

            rs2298373 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>A,C [Show Flanks]
              Chromosome:
              22:23754771 (GRCh38)
              22:24096958 (GRCh37)
              Canonical SPDI:
              NC_000022.11:23754770:T:A,NC_000022.11:23754770:T:C
              Gene:
              VPREB3 (Varview)
              Functional Consequence:
              2KB_upstream_variant,upstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0.43957/4830 (ALFA)
              T=0./0 (KOREAN)
              C=0.2/8 (GENOME_DK)
              T=0.265854/109 (SGDP_PRJ)
              C=0.295/177 (NorthernSweden)
              T=0.33955/5691 (TOMMO)
              C=0.41318/47081 (GnomAD)
              T=0.415939/762 (Korea1K)
              T=0.434305/2175 (1000Genomes)
              T=0.458333/11 (Siberian)
              C=0.472222/102 (Qatari)
              HGVS:
              7.

              rs4820566 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C,G [Show Flanks]
                Chromosome:
                22:23752725 (GRCh38)
                22:24094912 (GRCh37)
                Canonical SPDI:
                NC_000022.11:23752724:T:C,NC_000022.11:23752724:T:G
                Gene:
                ZNF70 (Varview), VPREB3 (Varview)
                Functional Consequence:
                2KB_upstream_variant,upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0.43538/29551 (ALFA)
                T=0.235981/101 (SGDP_PRJ)
                T=0.237313/3977 (TOMMO)
                T=0.244877/717 (KOREAN)
                T=0.26583/487 (Korea1K)
                C=0.268293/22 (PRJEB36033)
                T=0.304762/64 (Vietnamese)
                C=0.325/13 (GENOME_DK)
                C=0.350446/1570 (Estonian)
                T=0.368421/14 (Siberian)
                C=0.369471/1370 (TWINSUK)
                C=0.373747/373 (GoNL)
                C=0.38246/1474 (ALSPAC)
                C=0.395131/211 (MGP)
                T=0.399906/2003 (1000Genomes)
                C=0.445/267 (NorthernSweden)
                C=0.467593/101 (Qatari)
                T=0.473648/125370 (TOPMED)
                T=0.487925/68290 (GnomAD)
                HGVS:
                8.

                rs4822437 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>A,G,T [Show Flanks]
                  Chromosome:
                  22:23755785 (GRCh38)
                  22:24097972 (GRCh37)
                  Canonical SPDI:
                  NC_000022.11:23755784:C:A,NC_000022.11:23755784:C:G,NC_000022.11:23755784:C:T
                  Gene:
                  VPREB3 (Varview)
                  Functional Consequence:
                  2KB_upstream_variant,upstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  T=0.083166/83 (GoNL)
                  T=0.092233/342 (TWINSUK)
                  T=0.097042/374 (ALSPAC)
                  T=0.1/4 (GENOME_DK)
                  T=0.123333/74 (NorthernSweden)
                  T=0.146205/655 (Estonian)
                  T=0.152778/33 (Qatari)
                  T=0.160527/42490 (TOPMED)
                  T=0.216583/1085 (1000Genomes)
                  C=0.381188/77 (SGDP_PRJ)
                  T=0.389738/714 (Korea1K)
                  T=0.404096/1184 (KOREAN)
                  T=0.404714/6783 (TOMMO)
                  C=0.5/6 (Siberian)
                  HGVS:
                  9.

                  rs5751722 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G,T [Show Flanks]
                    Chromosome:
                    22:23753946 (GRCh38)
                    22:24096133 (GRCh37)
                    Canonical SPDI:
                    NC_000022.11:23753945:A:G,NC_000022.11:23753945:A:T
                    Gene:
                    VPREB3 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0.449868/8498 (ALFA)
                    A=0.234884/101 (SGDP_PRJ)
                    A=0.237419/3979 (TOMMO)
                    A=0.246416/722 (KOREAN)
                    A=0.265284/486 (Korea1K)
                    A=0.334906/71 (Vietnamese)
                    G=0.349107/1564 (Estonian)
                    G=0.369741/1371 (TWINSUK)
                    G=0.373747/373 (GoNL)
                    G=0.3822/1473 (ALSPAC)
                    A=0.388889/14 (Siberian)
                    A=0.392567/1966 (1000Genomes)
                    G=0.445/267 (NorthernSweden)
                    A=0.46689/123581 (TOPMED)
                    G=0.476852/103 (Qatari)
                    A=0.481451/67356 (GnomAD)
                    HGVS:
                    10.

                    rs5751723 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>C,G,T [Show Flanks]
                      Chromosome:
                      22:23754003 (GRCh38)
                      22:24096190 (GRCh37)
                      Canonical SPDI:
                      NC_000022.11:23754002:A:C,NC_000022.11:23754002:A:G,NC_000022.11:23754002:A:T
                      Gene:
                      VPREB3 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0.449406/8323 (ALFA)
                      T=0./0 (KOREAN)
                      A=0.234884/101 (SGDP_PRJ)
                      A=0.237384/3979 (TOMMO)
                      A=0.26583/487 (Korea1K)
                      G=0.348661/1562 (Estonian)
                      G=0.373747/373 (GoNL)
                      A=0.390974/1958 (1000Genomes)
                      G=0.441667/265 (NorthernSweden)
                      A=0.466893/123582 (TOPMED)
                      G=0.476852/103 (Qatari)
                      A=0.481471/67276 (GnomAD)
                      HGVS:
                      11.

                      rs5751724 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G,T [Show Flanks]
                        Chromosome:
                        22:23754040 (GRCh38)
                        22:24096227 (GRCh37)
                        Canonical SPDI:
                        NC_000022.11:23754039:A:G,NC_000022.11:23754039:A:T
                        Gene:
                        VPREB3 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0.422688/7605 (ALFA)
                        A=0.258537/106 (SGDP_PRJ)
                        A=0.266898/4473 (TOMMO)
                        A=0.28157/825 (KOREAN)
                        A=0.302402/554 (Korea1K)
                        G=0.347117/1553 (Estonian)
                        G=0.372745/372 (GoNL)
                        A=0.437539/2191 (1000Genomes)
                        G=0.443333/266 (NorthernSweden)
                        G=0.462963/100 (Qatari)
                        A=0.493581/130646 (TOPMED)
                        G=0.494262/69079 (GnomAD)
                        A=0.5/6 (Siberian)
                        HGVS:
                        12.

                        rs5759992 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A,T [Show Flanks]
                          Chromosome:
                          22:23754081 (GRCh38)
                          22:24096268 (GRCh37)
                          Canonical SPDI:
                          NC_000022.11:23754080:G:A,NC_000022.11:23754080:G:T
                          Gene:
                          VPREB3 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0.239077/2911 (ALFA)
                          G=0.266792/4471 (TOMMO)
                          G=0.280205/821 (KOREAN)
                          G=0.298942/113 (SGDP_PRJ)
                          G=0.303493/556 (Korea1K)
                          T=0.336014/1504 (Estonian)
                          T=0.337963/73 (Qatari)
                          T=0.349784/1297 (TWINSUK)
                          T=0.351703/351 (GoNL)
                          T=0.356513/1374 (ALSPAC)
                          G=0.368421/14 (Siberian)
                          T=0.400261/55838 (GnomAD)
                          T=0.40731/107811 (TOPMED)
                          T=0.431667/259 (NorthernSweden)
                          T=0.464397/2326 (1000Genomes)
                          HGVS:
                          13.

                          rs7284321 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A,C [Show Flanks]
                            Chromosome:
                            22:23754778 (GRCh38)
                            22:24096965 (GRCh37)
                            Canonical SPDI:
                            NC_000022.11:23754777:G:A,NC_000022.11:23754777:G:C
                            Gene:
                            VPREB3 (Varview)
                            Functional Consequence:
                            2KB_upstream_variant,upstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0.44718/5884 (ALFA)
                            G=0.265854/109 (SGDP_PRJ)
                            G=0.272808/4572 (TOMMO)
                            G=0.280205/821 (KOREAN)
                            A=0.325/13 (GENOME_DK)
                            G=0.4/12 (Siberian)
                            A=0.423333/254 (NorthernSweden)
                            G=0.434105/2174 (1000Genomes)
                            A=0.467593/101 (Qatari)
                            A=0.484722/65738 (GnomAD)
                            G=0.494038/130767 (TOPMED)
                            HGVS:
                            14.

                            rs9608180 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              22:23756250 (GRCh38)
                              22:24098437 (GRCh37)
                              Canonical SPDI:
                              NC_000022.11:23756249:T:C
                              Gene:
                              VPREB3 (Varview)
                              Functional Consequence:
                              2KB_upstream_variant,upstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0.130492/2465 (ALFA)
                              C=0.041667/9 (Qatari)
                              C=0.126689/17703 (GnomAD)
                              C=0.13005/34423 (TOPMED)
                              C=0.136273/136 (GoNL)
                              C=0.137001/508 (TWINSUK)
                              C=0.14219/548 (ALSPAC)
                              C=0.151468/759 (1000Genomes)
                              C=0.191667/115 (NorthernSweden)
                              C=0.274017/502 (Korea1K)
                              C=0.282594/828 (KOREAN)
                              C=0.316933/5312 (TOMMO)
                              C=0.317757/68 (Vietnamese)
                              T=0.352273/62 (SGDP_PRJ)
                              T=0.428571/6 (Siberian)
                              HGVS:
                              15.

                              rs9612418 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                22:23754828 (GRCh38)
                                22:24097015 (GRCh37)
                                Canonical SPDI:
                                NC_000022.11:23754827:C:T
                                Gene:
                                VPREB3 (Varview)
                                Functional Consequence:
                                2KB_upstream_variant,upstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0.109642/3193 (ALFA)
                                T=0.057143/4 (PRJEB36033)
                                T=0.08517/85 (GoNL)
                                T=0.09128/12785 (GnomAD)
                                T=0.092772/344 (TWINSUK)
                                T=0.098504/26073 (TOPMED)
                                T=0.099118/382 (ALSPAC)
                                T=0.1/4 (GENOME_DK)
                                T=0.124601/78 (Chileans)
                                T=0.126667/76 (NorthernSweden)
                                T=0.12963/28 (Qatari)
                                T=0.145846/730 (1000Genomes)
                                T=0.147098/659 (Estonian)
                                T=0.160826/257 (HapMap)
                                T=0.336449/72 (Vietnamese)
                                T=0.339054/5683 (TOMMO)
                                T=0.377183/691 (Korea1K)
                                C=0.389535/67 (SGDP_PRJ)
                                T=0.39215/1149 (KOREAN)
                                C=0.5/6 (Siberian)
                                HGVS:
                                16.

                                rs9612419 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  22:23756332 (GRCh38)
                                  22:24098519 (GRCh37)
                                  Canonical SPDI:
                                  NC_000022.11:23756331:T:C
                                  Gene:
                                  VPREB3 (Varview)
                                  Functional Consequence:
                                  2KB_upstream_variant,upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0.003962/47 (ALFA)
                                  C=0.000751/78 (GnomAD)
                                  C=0.000991/12 (TOMMO)
                                  C=0.154452/451 (KOREAN)
                                  T=0.5/26 (SGDP_PRJ)
                                  T=0.5/5 (Siberian)
                                  HGVS:
                                  17.

                                  rs9624315 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    22:23753733 (GRCh38)
                                    22:24095920 (GRCh37)
                                    Canonical SPDI:
                                    NC_000022.11:23753732:C:T
                                    Gene:
                                    VPREB3 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    HGVS:
                                    18.

                                    rs11702993 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>A,G,T [Show Flanks]
                                      Chromosome:
                                      22:23753191 (GRCh38)
                                      22:24095378 (GRCh37)
                                      Canonical SPDI:
                                      NC_000022.11:23753190:C:A,NC_000022.11:23753190:C:G,NC_000022.11:23753190:C:T
                                      Gene:
                                      VPREB3 (Varview)
                                      Functional Consequence:
                                      missense_variant,coding_sequence_variant,synonymous_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0.00002/1 (ALFA)
                                      HGVS:
                                      19.

                                      rs12167372 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C,G [Show Flanks]
                                        Chromosome:
                                        22:23756329 (GRCh38)
                                        22:24098516 (GRCh37)
                                        Canonical SPDI:
                                        NC_000022.11:23756328:T:C,NC_000022.11:23756328:T:G
                                        Gene:
                                        VPREB3 (Varview)
                                        Functional Consequence:
                                        2KB_upstream_variant,upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0./0 (ALFA)
                                        G=0.00004/1 (TOMMO)
                                        T=0.5/1 (SGDP_PRJ)
                                        HGVS:
                                        20.

                                        rs12484260 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>A,C,G [Show Flanks]
                                          Chromosome:
                                          22:23756290 (GRCh38)
                                          22:24098477 (GRCh37)
                                          Canonical SPDI:
                                          NC_000022.11:23756289:T:A,NC_000022.11:23756289:T:C,NC_000022.11:23756289:T:G
                                          Gene:
                                          VPREB3 (Varview)
                                          Functional Consequence:
                                          2KB_upstream_variant,upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0.067994/854 (ALFA)
                                          G=0.115741/25 (Qatari)
                                          G=0.174364/672 (ALSPAC)
                                          G=0.190506/50425 (TOPMED)
                                          G=0.196332/728 (TWINSUK)
                                          G=0.198397/198 (GoNL)
                                          G=0.22564/1130 (1000Genomes)
                                          G=0.275/165 (NorthernSweden)
                                          G=0.321663/588 (Korea1K)
                                          G=0.332765/975 (KOREAN)
                                          T=0.346154/9 (Siberian)
                                          G=0.358564/6009 (TOMMO)
                                          T=0.370536/83 (SGDP_PRJ)
                                          HGVS:

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