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Items: 1 to 20 of 1027

1.

rs1490307541 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    2:63842610 (GRCh38)
    2:64069744 (GRCh37)
    Canonical SPDI:
    NC_000002.12:63842609:C:T
    Gene:
    UGP2 (Varview), WDPCP (Varview)
    Functional Consequence:
    upstream_transcript_variant,intron_variant,2KB_upstream_variant
    Validated:
    by frequency,by cluster
    MAF:
    T=0.00001/1 (GnomAD_exomes)
    T=0.00006/1 (TOMMO)
    HGVS:
    2.

    rs1489758337 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      2:63843699 (GRCh38)
      2:64070833 (GRCh37)
      Canonical SPDI:
      NC_000002.12:63843698:T:C
      Gene:
      UGP2 (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:
      3.

      rs1486766341 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>G [Show Flanks]
        Chromosome:
        2:63841909 (GRCh38)
        2:64069043 (GRCh37)
        Canonical SPDI:
        NC_000002.12:63841908:T:G
        Gene:
        UGP2 (Varview), WDPCP (Varview)
        Functional Consequence:
        intron_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0./0 (ALFA)
        G=0.000004/1 (TOPMED)
        HGVS:
        4.

        rs1485987627 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>A,G,T [Show Flanks]
          Chromosome:
          2:63840764 (GRCh38)
          2:64067898 (GRCh37)
          Canonical SPDI:
          NC_000002.12:63840763:C:A,NC_000002.12:63840763:C:G,NC_000002.12:63840763:C:T
          Gene:
          UGP2 (Varview), WDPCP (Varview)
          Functional Consequence:
          upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant,5_prime_UTR_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0./0 (ALFA)
          G=0.000004/1 (TOPMED)
          C=0.5/1 (SGDP_PRJ)
          HGVS:
          5.

          rs1485892932 has merged into rs112594051 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            GA>- [Show Flanks]
            Chromosome:
            2:63842116 (GRCh38)
            2:64069250 (GRCh37)
            Canonical SPDI:
            NC_000002.12:63842110:AGAGAGA:AGAGA
            Gene:
            UGP2 (Varview), WDPCP (Varview)
            Functional Consequence:
            2KB_upstream_variant,intron_variant,upstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            AGAGA=0./0 (ALFA)
            -=0.000007/1 (GnomAD)
            -=0.000011/3 (TOPMED)
            -=0.00008/1 (GoESP)
            HGVS:
            6.

            rs1485244299 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>A,T [Show Flanks]
              Chromosome:
              2:63840718 (GRCh38)
              2:64067852 (GRCh37)
              Canonical SPDI:
              NC_000002.12:63840717:C:A,NC_000002.12:63840717:C:T
              Gene:
              UGP2 (Varview), WDPCP (Varview)
              Functional Consequence:
              upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant,5_prime_UTR_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0.000014/2 (GnomAD)
              A=0.000035/1 (TOMMO)
              HGVS:
              7.

              rs1485216896 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>C [Show Flanks]
                Chromosome:
                2:63843191 (GRCh38)
                2:64070325 (GRCh37)
                Canonical SPDI:
                NC_000002.12:63843190:A:C
                Gene:
                UGP2 (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:
                8.

                rs1484763400 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  2:63841145 (GRCh38)
                  2:64068279 (GRCh37)
                  Canonical SPDI:
                  NC_000002.12:63841144:C:T
                  Gene:
                  UGP2 (Varview), WDPCP (Varview)
                  Functional Consequence:
                  upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant,5_prime_UTR_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000014/2 (GnomAD)
                  HGVS:
                  9.

                  rs1483932614 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    2:63841979 (GRCh38)
                    2:64069113 (GRCh37)
                    Canonical SPDI:
                    NC_000002.12:63841978:G:A
                    Gene:
                    UGP2 (Varview), WDPCP (Varview)
                    Functional Consequence:
                    upstream_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,2KB_upstream_variant,intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000008/2 (TOPMED)
                    A=0.000021/3 (GnomAD)
                    HGVS:
                    10.

                    rs1482953112 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>G,T [Show Flanks]
                      Chromosome:
                      2:63841707 (GRCh38)
                      2:64068841 (GRCh37)
                      Canonical SPDI:
                      NC_000002.12:63841706:C:G,NC_000002.12:63841706:C:T
                      Gene:
                      UGP2 (Varview), WDPCP (Varview)
                      Functional Consequence:
                      genic_upstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      G=0.000014/2 (GnomAD)
                      HGVS:
                      11.

                      rs1482261887 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A,C,T [Show Flanks]
                        Chromosome:
                        2:63842422 (GRCh38)
                        2:64069556 (GRCh37)
                        Canonical SPDI:
                        NC_000002.12:63842421:G:A,NC_000002.12:63842421:G:C,NC_000002.12:63842421:G:T
                        Gene:
                        UGP2 (Varview), WDPCP (Varview)
                        Functional Consequence:
                        2KB_upstream_variant,upstream_transcript_variant,5_prime_UTR_variant,intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0./0 (ALFA)
                        A=0.000014/2 (GnomAD)
                        T=0.000546/1 (Korea1K)
                        HGVS:
                        12.

                        rs1481795528 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>T [Show Flanks]
                          Chromosome:
                          2:63843776 (GRCh38)
                          2:64070910 (GRCh37)
                          Canonical SPDI:
                          NC_000002.12:63843775:A:T
                          Gene:
                          UGP2 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000004/1 (TOPMED)
                          T=0.000029/4 (GnomAD)
                          HGVS:
                          13.

                          rs1481272537 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            2:63841644 (GRCh38)
                            2:64068778 (GRCh37)
                            Canonical SPDI:
                            NC_000002.12:63841643:T:C
                            Gene:
                            UGP2 (Varview), WDPCP (Varview)
                            Functional Consequence:
                            genic_upstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000004/1 (TOPMED)
                            HGVS:
                            14.

                            rs1479305843 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>T [Show Flanks]
                              Chromosome:
                              2:63843784 (GRCh38)
                              2:64070918 (GRCh37)
                              Canonical SPDI:
                              NC_000002.12:63843783:A:T
                              Gene:
                              UGP2 (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:
                              15.

                              rs1478685773 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                2:63842618 (GRCh38)
                                2:64069752 (GRCh37)
                                Canonical SPDI:
                                NC_000002.12:63842617:G:A
                                Gene:
                                UGP2 (Varview), WDPCP (Varview)
                                Functional Consequence:
                                upstream_transcript_variant,2KB_upstream_variant,intron_variant
                                Validated:
                                by frequency
                                MAF:
                                A=0.00001/1 (GnomAD_exomes)
                                HGVS:
                                16.

                                rs1476600585 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>T [Show Flanks]
                                  Chromosome:
                                  2:63841157 (GRCh38)
                                  2:64068291 (GRCh37)
                                  Canonical SPDI:
                                  NC_000002.12:63841156:G:T
                                  Gene:
                                  UGP2 (Varview), WDPCP (Varview)
                                  Functional Consequence:
                                  2KB_upstream_variant,genic_upstream_transcript_variant,upstream_transcript_variant,5_prime_UTR_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  T=0.000071/1 (ALFA)
                                  T=0.000007/1 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1476490824 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    2:63841195 (GRCh38)
                                    2:64068329 (GRCh37)
                                    Canonical SPDI:
                                    NC_000002.12:63841194:A:G
                                    Gene:
                                    UGP2 (Varview), WDPCP (Varview)
                                    Functional Consequence:
                                    2KB_upstream_variant,genic_upstream_transcript_variant,upstream_transcript_variant,5_prime_UTR_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0.000071/1 (ALFA)
                                    G=0.000004/1 (TOPMED)
                                    G=0.000007/1 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1476397638 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      2:63843669 (GRCh38)
                                      2:64070803 (GRCh37)
                                      Canonical SPDI:
                                      NC_000002.12:63843668:A:G
                                      Gene:
                                      UGP2 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000004/1 (TOPMED)
                                      G=0.000007/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1475956463 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        2:63843817 (GRCh38)
                                        2:64070951 (GRCh37)
                                        Canonical SPDI:
                                        NC_000002.12:63843816:A:G
                                        Gene:
                                        UGP2 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        G=0.000071/1 (ALFA)
                                        G=0.000004/1 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1475884332 [Homo sapiens]
                                          Variant type:
                                          SNV:
                                          Alleles:
                                          CCTGCC>-
                                          Chromosome:
                                          no mapping
                                          Canonical SPDI:

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