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Items: 1 to 20 of 644

1.

rs1489284202 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C,G [Show Flanks]
    Chromosome:
    9:137050984 (GRCh38)
    9:139945436 (GRCh37)
    Canonical SPDI:
    NC_000009.12:137050983:T:C,NC_000009.12:137050983:T:G
    Gene:
    ENTPD2 (Varview), LOC105376327 (Varview)
    Functional Consequence:
    coding_sequence_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant
    Validated:
    by frequency,by cluster
    MAF:
    C=0.000004/1 (GnomAD_exomes)
    HGVS:

    2.

    rs1487902218 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      9:137050929 (GRCh38)
      9:139945381 (GRCh37)
      Canonical SPDI:
      NC_000009.12:137050928:G:A
      Gene:
      ENTPD2 (Varview), LOC105376327 (Varview)
      Functional Consequence:
      coding_sequence_variant,upstream_transcript_variant,synonymous_variant,2KB_upstream_variant
      Validated:
      by frequency
      MAF:
      A=0.000004/1 (GnomAD_exomes)
      HGVS:

      3.

      rs1487778724 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>C [Show Flanks]
        Chromosome:
        9:137052245 (GRCh38)
        9:139946697 (GRCh37)
        Canonical SPDI:
        NC_000009.12:137052244:G:C
        Gene:
        ENTPD2 (Varview), LOC105376327 (Varview)
        Functional Consequence:
        missense_variant,5_prime_UTR_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
        Validated:
        by frequency
        MAF:
        C=0.000008/2 (GnomAD_exomes)
        HGVS:

        4.

        rs1487320153 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          GAGGGGTGTGCCCGCGTGTCTCTCTTTGGGCA>- [Show Flanks]
          Chromosome:
          9:137051545 (GRCh38)
          9:139945997 (GRCh37)
          Canonical SPDI:
          NC_000009.12:137051543:AGAGGGGTGTGCCCGCGTGTCTCTCTTTGGGCA:A
          Gene:
          ENTPD2 (Varview), LOC105376327 (Varview)
          Functional Consequence:
          coding_sequence_variant,upstream_transcript_variant,frameshift_variant,2KB_upstream_variant
          Validated:
          by frequency
          MAF:
          -=0.000004/1 (GnomAD_exomes)
          HGVS:

          5.

          rs1483738429 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>C,T [Show Flanks]
            Chromosome:
            9:137051059 (GRCh38)
            9:139945511 (GRCh37)
            Canonical SPDI:
            NC_000009.12:137051058:G:C,NC_000009.12:137051058:G:T
            Gene:
            ENTPD2 (Varview), LOC105376327 (Varview)
            Functional Consequence:
            coding_sequence_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant
            Validated:
            by frequency,by cluster
            MAF:
            T=0.000004/1 (GnomAD_exomes)
            C=0.000035/1 (TOMMO)
            HGVS:

            6.

            rs1480310034 [Homo sapiens]
              Variant type:
              INS
              Alleles:
              ->CTC,CTCAGCAGCTGCTCATCGACTC [Show Flanks]
              Chromosome:
              9:137048981 (GRCh38)
              9:139943434 (GRCh37)
              Canonical SPDI:
              NC_000009.12:137048981::CTC,NC_000009.12:137048981::CTCAGCAGCTGCTCATCGACTC
              Gene:
              ENTPD2 (Varview)
              Functional Consequence:
              coding_sequence_variant,stop_gained
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              CTCAGCAGCTGCTCATCGACTC=0.000084/1 (ALFA)
              CTC=0.000023/3 (GnomAD_exomes)
              CTC=0.000086/12 (GnomAD)
              CTC=0.000156/1 (1000Genomes)
              HGVS:
              NC_000009.12:g.137048981_137048982insCTC, NC_000009.12:g.137048981_137048982insCTCAGCAGCTGCTCATCGACTC, NC_000009.11:g.139943433_139943434insCTC, NC_000009.11:g.139943433_139943434insCTCAGCAGCTGCTCATCGACTC, NG_029427.1:g.10072_10073insGAG, NG_029427.1:g.10072_10073insGAGTCGATGAGCAGCTGCTGAG, NM_001246.4:c.1174_1175insGAG, NM_001246.4:c.1174_1175insGAGTCGATGAGCAGCTGCTGAG, NM_001246.3:c.1174_1175insGAG, NM_001246.3:c.1174_1175insGAGTCGATGAGCAGCTGCTGAG, NM_203468.3:c.1243_1244insGAG, NM_203468.3:c.1243_1244insGAGTCGATGAGCAGCTGCTGAG, NM_203468.2:c.1243_1244insGAG, NM_203468.2:c.1243_1244insGAGTCGATGAGCAGCTGCTGAG, XM_011519212.3:c.934_935insGAG, XM_011519212.3:c.934_935insGAGTCGATGAGCAGCTGCTGAG, XM_011519212.2:c.934_935insGAG, XM_011519212.2:c.934_935insGAGTCGATGAGCAGCTGCTGAG, XM_011519212.1:c.934_935insGAG, XM_011519212.1:c.934_935insGAGTCGATGAGCAGCTGCTGAG, NP_001237.1:p.Phe392Ter, NP_001237.1:p.Phe392Ter, NP_982293.1:p.Phe415Ter, NP_982293.1:p.Phe415Ter, XP_011517514.1:p.Phe312Ter, XP_011517514.1:p.Phe312Ter

              7.

              rs1478929483 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                9:137050937 (GRCh38)
                9:139945389 (GRCh37)
                Canonical SPDI:
                NC_000009.12:137050936:G:A
                Gene:
                ENTPD2 (Varview), LOC105376327 (Varview)
                Functional Consequence:
                coding_sequence_variant,upstream_transcript_variant,stop_gained,2KB_upstream_variant
                HGVS:

                8.

                rs1475594521 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>A,C,G [Show Flanks]
                  Chromosome:
                  9:137048942 (GRCh38)
                  9:139943394 (GRCh37)
                  Canonical SPDI:
                  NC_000009.12:137048941:T:A,NC_000009.12:137048941:T:C,NC_000009.12:137048941:T:G
                  Gene:
                  ENTPD2 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant
                  Validated:
                  by frequency,by cluster
                  MAF:
                  C=0.0128/37 (KOREAN)
                  HGVS:
                  NC_000009.12:g.137048942T>A, NC_000009.12:g.137048942T>C, NC_000009.12:g.137048942T>G, NC_000009.11:g.139943394T>A, NC_000009.11:g.139943394T>C, NC_000009.11:g.139943394T>G, NG_029427.1:g.10112A>T, NG_029427.1:g.10112A>G, NG_029427.1:g.10112A>C, NM_001246.4:c.1214A>T, NM_001246.4:c.1214A>G, NM_001246.4:c.1214A>C, NM_001246.3:c.1214A>T, NM_001246.3:c.1214A>G, NM_001246.3:c.1214A>C, NM_203468.3:c.1283A>T, NM_203468.3:c.1283A>G, NM_203468.3:c.1283A>C, NM_203468.2:c.1283A>T, NM_203468.2:c.1283A>G, NM_203468.2:c.1283A>C, XM_011519212.3:c.974A>T, XM_011519212.3:c.974A>G, XM_011519212.3:c.974A>C, XM_011519212.2:c.974A>T, XM_011519212.2:c.974A>G, XM_011519212.2:c.974A>C, XM_011519212.1:c.974A>T, XM_011519212.1:c.974A>G, XM_011519212.1:c.974A>C, NP_001237.1:p.Lys405Met, NP_001237.1:p.Lys405Arg, NP_001237.1:p.Lys405Thr, NP_982293.1:p.Lys428Met, NP_982293.1:p.Lys428Arg, NP_982293.1:p.Lys428Thr, XP_011517514.1:p.Lys325Met, XP_011517514.1:p.Lys325Arg, XP_011517514.1:p.Lys325Thr

                  9.

                  rs1475310015 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>T [Show Flanks]
                    Chromosome:
                    9:137051014 (GRCh38)
                    9:139945466 (GRCh37)
                    Canonical SPDI:
                    NC_000009.12:137051013:G:T
                    Gene:
                    ENTPD2 (Varview), LOC105376327 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,missense_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0.000071/1 (ALFA)
                    T=0.000007/1 (GnomAD)
                    HGVS:

                    10.

                    rs1475192752 [Homo sapiens]
                      Variant type:
                      SNV:
                      Alleles:
                      ->G
                      Chromosome:
                      no mapping
                      Canonical SPDI:

                      11.

                      rs1474327912 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        9:137050414 (GRCh38)
                        9:139944866 (GRCh37)
                        Canonical SPDI:
                        NC_000009.12:137050413:C:T
                        Gene:
                        ENTPD2 (Varview), LOC105376327 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,missense_variant
                        HGVS:

                        12.

                        rs1474169412 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A,C [Show Flanks]
                          Chromosome:
                          9:137049904 (GRCh38)
                          9:139944356 (GRCh37)
                          Canonical SPDI:
                          NC_000009.12:137049903:G:A,NC_000009.12:137049903:G:C
                          Gene:
                          ENTPD2 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0./0 (ALFA)
                          A=0.000004/1 (GnomAD_exomes)
                          A=0.000007/1 (GnomAD)
                          HGVS:

                          13.

                          rs1470722539 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            9:137048697 (GRCh38)
                            9:139943149 (GRCh37)
                            Canonical SPDI:
                            NC_000009.12:137048696:A:G
                            Gene:
                            ENTPD2 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,missense_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000004/1 (TOPMED)
                            G=0.000007/1 (GnomAD)
                            HGVS:

                            14.

                            rs1470577335 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              9:137053943 (GRCh38)
                              9:139948395 (GRCh37)
                              Canonical SPDI:
                              NC_000009.12:137053942:G:A
                              Gene:
                              ENTPD2 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,genic_upstream_transcript_variant,upstream_transcript_variant,missense_variant
                              HGVS:

                              15.

                              rs1469482366 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                9:137053948 (GRCh38)
                                9:139948400 (GRCh37)
                                Canonical SPDI:
                                NC_000009.12:137053947:G:A
                                Gene:
                                ENTPD2 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,genic_upstream_transcript_variant,upstream_transcript_variant,missense_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000014/2 (GnomAD)
                                A=0.000015/4 (TOPMED)
                                A=0.0025/1 (GnomAD_exomes)
                                HGVS:

                                16.

                                rs1468676732 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  9:137048819 (GRCh38)
                                  9:139943271 (GRCh37)
                                  Canonical SPDI:
                                  NC_000009.12:137048818:C:T
                                  Gene:
                                  ENTPD2 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,synonymous_variant
                                  HGVS:

                                  17.

                                  rs1464241978 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>C [Show Flanks]
                                    Chromosome:
                                    9:137051648 (GRCh38)
                                    9:139946100 (GRCh37)
                                    Canonical SPDI:
                                    NC_000009.12:137051647:G:C
                                    Gene:
                                    ENTPD2 (Varview), LOC105376327 (Varview)
                                    Functional Consequence:
                                    missense_variant,coding_sequence_variant,2KB_upstream_variant,5_prime_UTR_variant,upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000012/3 (GnomAD_exomes)
                                    C=0.000019/5 (TOPMED)
                                    HGVS:

                                    18.

                                    rs1461483025 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      9:137048790 (GRCh38)
                                      9:139943242 (GRCh37)
                                      Canonical SPDI:
                                      NC_000009.12:137048789:G:A
                                      Gene:
                                      ENTPD2 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_variant
                                      HGVS:

                                      19.

                                      rs1461192562 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        9:137051331 (GRCh38)
                                        9:139945783 (GRCh37)
                                        Canonical SPDI:
                                        NC_000009.12:137051330:T:C
                                        Gene:
                                        ENTPD2 (Varview), LOC105376327 (Varview)
                                        Functional Consequence:
                                        2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,synonymous_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000008/2 (TOPMED)
                                        HGVS:

                                        20.

                                        rs1460720674 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          GG>- [Show Flanks]
                                          Chromosome:
                                          9:137050444 (GRCh38)
                                          9:139944896 (GRCh37)
                                          Canonical SPDI:
                                          NC_000009.12:137050441:GGGG:GG
                                          Gene:
                                          ENTPD2 (Varview), LOC105376327 (Varview)
                                          Functional Consequence:
                                          2KB_upstream_variant,coding_sequence_variant,frameshift_variant,upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          GGGG=0.000071/1 (ALFA)
                                          -=0.000004/1 (TOPMED)
                                          -=0.000007/1 (GnomAD)
                                          HGVS:

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