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Items: 1 to 20 of 211

1.

rs1489144740 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>T [Show Flanks]
    Chromosome:
    19:12799892 (GRCh38)
    19:12910706 (GRCh37)
    Canonical SPDI:
    NC_000019.10:12799891:G:T
    Gene:
    PRDX2 (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant
    HGVS:
    2.

    rs1481949012 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      19:12799928 (GRCh38)
      19:12910742 (GRCh37)
      Canonical SPDI:
      NC_000019.10:12799927:C:T
      Gene:
      PRDX2 (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      T=0.000007/1 (GnomAD)
      T=0.000008/2 (TOPMED)
      HGVS:
      3.

      rs1475093535 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        19:12797133 (GRCh38)
        19:12907947 (GRCh37)
        Canonical SPDI:
        NC_000019.10:12797132:G:A
        Gene:
        PRDX2 (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant
        Validated:
        by frequency
        MAF:
        A=0.000008/2 (GnomAD_exomes)
        HGVS:
        4.

        rs1469700084 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          19:12800204 (GRCh38)
          19:12911018 (GRCh37)
          Canonical SPDI:
          NC_000019.10:12800203:A:G
          Gene:
          PRDX2 (Varview), THSD8 (Varview)
          Functional Consequence:
          2KB_upstream_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0./0 (ALFA)
          G=0.000004/1 (TOPMED)
          HGVS:
          5.

          rs1464969486 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>G [Show Flanks]
            Chromosome:
            19:12799963 (GRCh38)
            19:12910777 (GRCh37)
            Canonical SPDI:
            NC_000019.10:12799962:C:G
            Gene:
            PRDX2 (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant
            Validated:
            by frequency,by alfa
            MAF:
            G=0./0 (ALFA)
            G=0.000012/3 (GnomAD_exomes)
            HGVS:
            6.

            rs1455574404 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              19:12800989 (GRCh38)
              19:12911803 (GRCh37)
              Canonical SPDI:
              NC_000019.10:12800988:C:T
              Gene:
              PRDX2 (Varview), THSD8 (Varview)
              Functional Consequence:
              2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant
              Validated:
              by frequency
              MAF:
              T=0.000004/1 (GnomAD_exomes)
              HGVS:
              7.

              rs1455166574 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                19:12797153 (GRCh38)
                19:12907967 (GRCh37)
                Canonical SPDI:
                NC_000019.10:12797152:G:A
                Gene:
                PRDX2 (Varview)
                Functional Consequence:
                coding_sequence_variant,synonymous_variant
                Validated:
                by frequency
                MAF:
                A=0.000004/1 (GnomAD_exomes)
                HGVS:
                8.

                rs1449115091 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  19:12801244 (GRCh38)
                  19:12912058 (GRCh37)
                  Canonical SPDI:
                  NC_000019.10:12801243:C:T
                  Gene:
                  PRDX2 (Varview), THSD8 (Varview)
                  Functional Consequence:
                  2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,synonymous_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000004/1 (TOPMED)
                  T=0.000007/1 (GnomAD)
                  HGVS:
                  9.

                  rs1443681627 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    19:12801044 (GRCh38)
                    19:12911858 (GRCh37)
                    Canonical SPDI:
                    NC_000019.10:12801043:G:A
                    Gene:
                    PRDX2 (Varview), THSD8 (Varview)
                    Functional Consequence:
                    2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,synonymous_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:
                    10.

                    rs1440078880 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>C [Show Flanks]
                      Chromosome:
                      19:12801022 (GRCh38)
                      19:12911836 (GRCh37)
                      Canonical SPDI:
                      NC_000019.10:12801021:A:C
                      Gene:
                      PRDX2 (Varview), THSD8 (Varview)
                      Functional Consequence:
                      2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant
                      Validated:
                      by frequency
                      MAF:
                      C=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      11.

                      rs1434771250 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>T [Show Flanks]
                        Chromosome:
                        19:12801032 (GRCh38)
                        19:12911846 (GRCh37)
                        Canonical SPDI:
                        NC_000019.10:12801031:G:T
                        Gene:
                        PRDX2 (Varview), THSD8 (Varview)
                        Functional Consequence:
                        upstream_transcript_variant,missense_variant,2KB_upstream_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000007/1 (GnomAD)
                        HGVS:
                        12.

                        rs1432492557 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          19:12801207 (GRCh38)
                          19:12912021 (GRCh37)
                          Canonical SPDI:
                          NC_000019.10:12801206:C:T
                          Gene:
                          PRDX2 (Varview), THSD8 (Varview)
                          Functional Consequence:
                          upstream_transcript_variant,missense_variant,2KB_upstream_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000004/1 (TOPMED)
                          HGVS:
                          13.

                          rs1414795302 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            19:12799979 (GRCh38)
                            19:12910793 (GRCh37)
                            Canonical SPDI:
                            NC_000019.10:12799978:T:C
                            Gene:
                            PRDX2 (Varview)
                            Functional Consequence:
                            missense_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            14.

                            rs1413757751 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              19:12797152 (GRCh38)
                              19:12907966 (GRCh37)
                              Canonical SPDI:
                              NC_000019.10:12797151:A:G
                              Gene:
                              PRDX2 (Varview)
                              Functional Consequence:
                              missense_variant,coding_sequence_variant
                              Validated:
                              by frequency
                              MAF:
                              G=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              15.

                              rs1411228670 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                19:12801014 (GRCh38)
                                19:12911828 (GRCh37)
                                Canonical SPDI:
                                NC_000019.10:12801013:G:A
                                Gene:
                                PRDX2 (Varview), THSD8 (Varview)
                                Functional Consequence:
                                upstream_transcript_variant,synonymous_variant,2KB_upstream_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000007/1 (GnomAD)
                                A=0.000011/3 (TOPMED)
                                HGVS:
                                16.

                                rs1407350436 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>T [Show Flanks]
                                  Chromosome:
                                  19:12799986 (GRCh38)
                                  19:12910800 (GRCh37)
                                  Canonical SPDI:
                                  NC_000019.10:12799985:G:T
                                  Gene:
                                  PRDX2 (Varview)
                                  Functional Consequence:
                                  synonymous_variant,coding_sequence_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  T=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  17.

                                  rs1406489280 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    19:12801236 (GRCh38)
                                    19:12912050 (GRCh37)
                                    Canonical SPDI:
                                    NC_000019.10:12801235:C:T
                                    Gene:
                                    PRDX2 (Varview), THSD8 (Varview)
                                    Functional Consequence:
                                    missense_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
                                    HGVS:
                                    18.

                                    rs1400462795 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      19:12801241 (GRCh38)
                                      19:12912055 (GRCh37)
                                      Canonical SPDI:
                                      NC_000019.10:12801240:G:A
                                      Gene:
                                      PRDX2 (Varview), THSD8 (Varview)
                                      Functional Consequence:
                                      synonymous_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000004/1 (TOPMED)
                                      A=0.000007/1 (GnomAD)
                                      A=0.000012/3 (GnomAD_exomes)
                                      HGVS:
                                      19.

                                      rs1392275167 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>C [Show Flanks]
                                        Chromosome:
                                        19:12800978 (GRCh38)
                                        19:12911792 (GRCh37)
                                        Canonical SPDI:
                                        NC_000019.10:12800977:G:C
                                        Gene:
                                        PRDX2 (Varview), THSD8 (Varview)
                                        Functional Consequence:
                                        missense_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000004/1 (TOPMED)
                                        C=0.000007/1 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1391099226 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          19:12800278 (GRCh38)
                                          19:12911092 (GRCh37)
                                          Canonical SPDI:
                                          NC_000019.10:12800277:C:T
                                          Gene:
                                          PRDX2 (Varview), THSD8 (Varview)
                                          Functional Consequence:
                                          synonymous_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0.000051/1 (ALFA)
                                          T=0.000004/1 (GnomAD_exomes)
                                          T=0.000007/1 (GnomAD)
                                          HGVS:

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