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Items: 1 to 20 of 309861

1.

rs5199 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A,T [Show Flanks]
    Chromosome:
    X:153905686 (GRCh38)
    X:153171140 (GRCh37)
    Canonical SPDI:
    NC_000023.11:153905685:G:A,NC_000023.11:153905685:G:T
    Gene:
    AVPR2 (Varview)
    Functional Consequence:
    coding_sequence_variant,synonymous_variant,intron_variant
    Clinical significance:
    benign
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0./0 (ALFA)
    A=0./0 (1000Genomes)
    A=0.000067/12 (GnomAD_exomes)
    A=0.000087/7 (ExAC)
    A=0.000095/1 (GoESP)
    A=0.000159/20 (TOPMED)
    A=0.000183/4 (GnomAD)
    HGVS:
    2.

    rs140086 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A,C [Show Flanks]
      Chromosome:
      22:29681372 (GRCh38)
      22:30077361 (GRCh37)
      Canonical SPDI:
      NC_000022.11:29681371:G:A,NC_000022.11:29681371:G:C
      Gene:
      NF2 (Varview)
      Functional Consequence:
      intron_variant
      Clinical significance:
      benign
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0./0 (ALFA)
      G=0./0 (1000Genomes)
      G=0./0 (ALSPAC)
      G=0./0 (GENOME_DK)
      G=0./0 (Korea1K)
      G=0./0 (NorthernSweden)
      G=0./0 (Qatari)
      G=0./0 (SGDP_PRJ)
      G=0./0 (Siberian)
      G=0./0 (TWINSUK)
      G=0./0 (Vietnamese)
      G=0.000032/1 (GnomAD)
      G=0.00004/5 (TOPMED)
      G=0.000341/1 (KOREAN)
      G=0.020599/11 (MGP)
      HGVS:
      3.

      rs169126 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C,G [Show Flanks]
        Chromosome:
        17:46934882 (GRCh38)
        17:45012248 (GRCh37)
        Canonical SPDI:
        NC_000017.11:46934881:T:C,NC_000017.11:46934881:T:G
        Gene:
        GOSR2 (Varview), LRRC37A2 (Varview)
        Functional Consequence:
        genic_downstream_transcript_variant,intron_variant
        Clinical significance:
        benign
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        T=0./0 (1000Genomes)
        T=0./0 (ALSPAC)
        T=0./0 (GENOME_DK)
        T=0./0 (Korea1K)
        T=0./0 (NorthernSweden)
        T=0./0 (Qatari)
        T=0./0 (SGDP_PRJ)
        T=0./0 (Siberian)
        T=0./0 (TWINSUK)
        T=0./0 (Vietnamese)
        T=0.000008/1 (TOPMED)
        T=0.000064/2 (GnomAD)
        T=0.000683/2 (KOREAN)
        G=0.329588/176 (MGP)
        HGVS:
        4.

        rs229969 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A,C,T [Show Flanks]
          Chromosome:
          17:43953375 (GRCh38)
          17:42030743 (GRCh37)
          Canonical SPDI:
          NC_000017.11:43953374:G:A,NC_000017.11:43953374:G:C,NC_000017.11:43953374:G:T
          Gene:
          PYY (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant
          Clinical significance:
          benign
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0./0 (ALFA)
          G=0./0 (1000Genomes)
          G=0./0 (ALSPAC)
          G=0./0 (FINRISK)
          G=0./0 (GENOME_DK)
          G=0./0 (GnomAD)
          T=0./0 (KOREAN)
          G=0./0 (NorthernSweden)
          G=0./0 (Qatari)
          G=0./0 (SGDP_PRJ)
          G=0./0 (Siberian)
          G=0./0 (TOPMED)
          G=0./0 (TWINSUK)
          G=0./0 (Vietnamese)
          G=0.000012/3 (GnomAD_exomes)
          G=0.000017/2 (ExAC)
          G=0.000556/1 (Korea1K)
          C=0.280899/150 (MGP)
          HGVS:
          5.

          rs334760 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A,C,T [Show Flanks]
            Chromosome:
            3:3140816 (GRCh38)
            3:3182500 (GRCh37)
            Canonical SPDI:
            NC_000003.12:3140815:G:A,NC_000003.12:3140815:G:C,NC_000003.12:3140815:G:T
            Gene:
            TRNT1 (Varview)
            Functional Consequence:
            intron_variant,genic_downstream_transcript_variant
            Clinical significance:
            benign
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0./0 (ALFA)
            G=0./0 (1000Genomes)
            G=0./0 (ALSPAC)
            G=0./0 (GENOME_DK)
            T=0./0 (KOREAN)
            G=0./0 (Korea1K)
            G=0./0 (NorthernSweden)
            G=0./0 (Qatari)
            G=0./0 (SGDP_PRJ)
            G=0./0 (Siberian)
            G=0./0 (TWINSUK)
            G=0.000494/62 (TOPMED)
            G=0.000573/18 (GnomAD)
            HGVS:
            6.

            rs518624 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>A,C [Show Flanks]
              Chromosome:
              11:78121030 (GRCh38)
              11:77832076 (GRCh37)
              Canonical SPDI:
              NC_000011.10:78121029:T:A,NC_000011.10:78121029:T:C
              Gene:
              ALG8 (Varview)
              Functional Consequence:
              intron_variant
              Clinical significance:
              benign
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0./0 (1000Genomes)
              T=0./0 (ALSPAC)
              T=0./0 (GENOME_DK)
              T=0./0 (GnomAD_exomes)
              C=0./0 (KOREAN)
              T=0./0 (Korea1K)
              T=0./0 (NorthernSweden)
              T=0./0 (Qatari)
              T=0./0 (SGDP_PRJ)
              T=0./0 (Siberian)
              T=0./0 (TOPMED)
              T=0./0 (TWINSUK)
              T=0./0 (Vietnamese)
              T=0.000008/1 (ExAC)
              T=0.000032/1 (GnomAD)
              T=0.000077/1 (GoESP)
              T=0.076779/41 (MGP)
              HGVS:
              7.

              rs707203 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>C,G,T [Show Flanks]
                Chromosome:
                1:236734333 (GRCh38)
                1:236897633 (GRCh37)
                Canonical SPDI:
                NC_000001.11:236734332:A:C,NC_000001.11:236734332:A:G,NC_000001.11:236734332:A:T
                Gene:
                ACTN2 (Varview)
                Functional Consequence:
                intron_variant
                Clinical significance:
                benign
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0./0 (ALFA)
                A=0./0 (1000Genomes)
                A=0./0 (ALSPAC)
                A=0./0 (GENOME_DK)
                C=0./0 (KOREAN)
                A=0./0 (Korea1K)
                A=0./0 (MGP)
                A=0./0 (NorthernSweden)
                A=0./0 (Qatari)
                A=0./0 (SGDP_PRJ)
                A=0./0 (Siberian)
                A=0./0 (TWINSUK)
                A=0./0 (Vietnamese)
                A=0.000096/3 (GnomAD)
                A=0.000111/14 (TOPMED)
                HGVS:
                8.

                rs1346270 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>A,C,G [Show Flanks]
                  Chromosome:
                  4:174522904 (GRCh38)
                  4:175444055 (GRCh37)
                  Canonical SPDI:
                  NC_000004.12:174522903:T:A,NC_000004.12:174522903:T:C,NC_000004.12:174522903:T:G
                  Gene:
                  HPGD (Varview), LOC105377548 (Varview)
                  Functional Consequence:
                  genic_upstream_transcript_variant,upstream_transcript_variant,non_coding_transcript_variant
                  Clinical significance:
                  benign
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0./0 (1000Genomes)
                  T=0./0 (ALSPAC)
                  T=0./0 (GENOME_DK)
                  T=0./0 (GnomAD)
                  G=0./0 (KOREAN)
                  T=0./0 (Korea1K)
                  T=0./0 (NorthernSweden)
                  T=0./0 (Qatari)
                  T=0./0 (SGDP_PRJ)
                  T=0./0 (Siberian)
                  T=0./0 (TWINSUK)
                  T=0./0 (Vietnamese)
                  T=0.000016/2 (TOPMED)
                  HGVS:
                  9.

                  rs1570096 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>C,G,T [Show Flanks]
                    Chromosome:
                    1:160115491 (GRCh38)
                    1:160085281 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:160115490:A:C,NC_000001.11:160115490:A:G,NC_000001.11:160115490:A:T
                    Gene:
                    ATP1A2 (Varview)
                    Functional Consequence:
                    upstream_transcript_variant
                    Clinical significance:
                    benign
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0./0 (ALFA)
                    A=0./0 (1000Genomes)
                    A=0./0 (ALSPAC)
                    A=0./0 (GENOME_DK)
                    C=0./0 (KOREAN)
                    A=0./0 (Korea1K)
                    A=0./0 (NorthernSweden)
                    A=0./0 (Qatari)
                    A=0./0 (SGDP_PRJ)
                    A=0./0 (Siberian)
                    A=0./0 (TWINSUK)
                    A=0./0 (Vietnamese)
                    A=0.000159/5 (GnomAD)
                    A=0.00043/54 (TOPMED)
                    HGVS:
                    10.

                    rs1626450 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      2:231222761 (GRCh38)
                      2:232087474 (GRCh37)
                      Canonical SPDI:
                      NC_000002.12:231222760:A:G
                      Gene:
                      ARMC9 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
                      Clinical significance:
                      benign
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0.000056/1 (ALFA)
                      A=0./0 (1000Genomes)
                      A=0./0 (ALSPAC)
                      A=0./0 (FINRISK)
                      A=0./0 (GENOME_DK)
                      A=0./0 (Korea1K)
                      A=0./0 (NorthernSweden)
                      A=0./0 (PAGE_STUDY)
                      A=0./0 (Qatari)
                      A=0./0 (SGDP_PRJ)
                      A=0./0 (Siberian)
                      A=0./0 (TOPMED)
                      A=0./0 (TWINSUK)
                      A=0.000081/20 (GnomAD_exomes)
                      A=0.000083/10 (ExAC)
                      A=0.000096/3 (GnomAD)
                      A=0.000341/1 (KOREAN)
                      A=0.003049/1 (HapMap)
                      A=0.007158/93 (GoESP)
                      A=0.013109/7 (MGP)
                      A=0.327655/327 (GoNL)
                      HGVS:
                      NC_000002.12:g.231222761A>G, NC_000002.11:g.232087474A>G, NM_025139.5:c.538G>A, NM_025139.6:c.538A>G, NM_025139.4:c.538G>A, NM_001271466.3:c.538G>A, NM_001271466.4:c.538A>G, NM_001271466.1:c.538G>A, XM_011511916.2:c.538A>G, XM_011511908.2:c.538A>G, XM_011511909.2:c.538A>G, XM_011511914.2:c.538A>G, XM_011511913.2:c.538A>G, XM_011511915.2:c.538A>G, NM_001352754.1:c.538G>A, NM_001352754.2:c.538A>G, XM_011511905.1:c.538A>G, XM_011511906.1:c.538A>G, XM_011511907.1:c.538A>G, XM_017005021.1:c.538A>G, XM_017005022.1:c.538A>G, XM_011511910.1:c.538A>G, XM_011511912.1:c.538A>G, NR_148040.1:n.732G>A, NR_148040.2:n.647A>G, XM_017005024.1:c.538A>G, NM_001352755.1:c.538G>A, NM_001352755.2:c.538A>G, NM_001352756.1:c.538G>A, NM_001352756.2:c.538A>G, XM_017005025.1:c.538A>G, NM_001291656.1:c.538G>A, NM_001291656.2:c.538A>G, NM_001352757.1:c.538G>A, NM_001352757.2:c.538A>G, NM_001352758.1:c.538G>A, NM_001352758.2:c.538A>G, NM_001352759.1:c.538G>A, NM_001352759.2:c.538A>G, XR_923031.1:n.650A>G, NP_079415.4:p.Ile180Val, NP_001258395.2:p.Ile180Val, XP_011510218.1:p.Ile180Val, XP_011510210.1:p.Ile180Val, XP_011510211.1:p.Ile180Val, XP_011510216.1:p.Ile180Val, XP_011510215.1:p.Ile180Val, XP_011510217.1:p.Ile180Val, NP_001339683.2:p.Ile180Val, XP_011510207.1:p.Ile180Val, XP_011510208.1:p.Ile180Val, XP_011510209.1:p.Ile180Val, XP_016860510.1:p.Ile180Val, XP_016860511.1:p.Ile180Val, XP_011510212.1:p.Ile180Val, XP_011510214.1:p.Ile180Val, XP_016860513.1:p.Ile180Val, NP_001339684.2:p.Ile180Val, NP_001339685.2:p.Ile180Val, XP_016860514.1:p.Ile180Val, NP_001278585.2:p.Ile180Val, NP_001339686.2:p.Ile180Val, NP_001339687.2:p.Ile180Val, NP_001339688.2:p.Ile180Val
                      11.

                      rs1868464 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A,C [Show Flanks]
                        Chromosome:
                        13:38687920 (GRCh38)
                        13:39262057 (GRCh37)
                        Canonical SPDI:
                        NC_000013.11:38687919:G:A,NC_000013.11:38687919:G:C
                        Gene:
                        FREM2 (Varview), LINC00437 (Varview)
                        Functional Consequence:
                        synonymous_variant,missense_variant,non_coding_transcript_variant,upstream_transcript_variant,coding_sequence_variant
                        Clinical significance:
                        benign
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        G=0./0 (1000Genomes)
                        G=0./0 (ALSPAC)
                        G=0./0 (GENOME_DK)
                        C=0./0 (KOREAN)
                        G=0./0 (Korea1K)
                        G=0./0 (NorthernSweden)
                        G=0./0 (Qatari)
                        G=0./0 (SGDP_PRJ)
                        G=0./0 (Siberian)
                        G=0./0 (TWINSUK)
                        G=0./0 (Vietnamese)
                        G=0.000031/7 (GnomAD_exomes)
                        G=0.000033/3 (ExAC)
                        G=0.000096/3 (GnomAD)
                        G=0.000159/20 (TOPMED)
                        G=0.000231/3 (GoESP)
                        G=0.048689/26 (MGP)
                        HGVS:
                        12.

                        rs1883371 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          16:426096 (GRCh38)
                          16:476096 (GRCh37)
                          Canonical SPDI:
                          NC_000016.10:426095:A:G
                          Gene:
                          RAB11FIP3 (Varview)
                          Functional Consequence:
                          synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant
                          Clinical significance:
                          likely-benign
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0./0 (1000Genomes)
                          A=0./0 (GENOME_DK)
                          A=0./0 (GnomAD)
                          A=0./0 (GnomAD_exomes)
                          A=0./0 (NorthernSweden)
                          A=0./0 (SGDP_PRJ)
                          A=0./0 (Siberian)
                          A=0./0 (TOPMED)
                          A=0./0 (Vietnamese)
                          A=0.000638/1 (KOREAN)
                          HGVS:
                          13.

                          rs2186248 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A,C,T [Show Flanks]
                            Chromosome:
                            1:65570818 (GRCh38)
                            1:66036501 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:65570817:G:A,NC_000001.11:65570817:G:C,NC_000001.11:65570817:G:T
                            Gene:
                            LEPR (Varview)
                            Functional Consequence:
                            intron_variant
                            Clinical significance:
                            benign
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0./0 (ALFA)
                            G=0./0 (1000Genomes)
                            G=0./0 (ALSPAC)
                            G=0./0 (FINRISK)
                            G=0./0 (GENOME_DK)
                            A=0./0 (KOREAN)
                            G=0./0 (Korea1K)
                            G=0./0 (NorthernSweden)
                            G=0./0 (Qatari)
                            G=0./0 (SGDP_PRJ)
                            G=0./0 (Siberian)
                            G=0./0 (TWINSUK)
                            G=0./0 (Vietnamese)
                            G=0.000091/10 (ExAC)
                            G=0.000133/25 (GnomAD_exomes)
                            G=0.00035/11 (GnomAD)
                            G=0.000414/52 (TOPMED)
                            G=0.000539/7 (GoESP)
                            G=0.059925/32 (MGP)
                            HGVS:
                            14.

                            rs2195386 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>C [Show Flanks]
                              Chromosome:
                              19:40601299 (GRCh38)
                              19:41107205 (GRCh37)
                              Canonical SPDI:
                              NC_000019.10:40601298:G:C
                              Gene:
                              LTBP4 (Varview)
                              Functional Consequence:
                              upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
                              Clinical significance:
                              benign
                              Validated:
                              by frequency,by cluster
                              MAF:
                              G=0./0 (1000Genomes)
                              G=0./0 (ALSPAC)
                              G=0./0 (GENOME_DK)
                              G=0./0 (Korea1K)
                              G=0./0 (NorthernSweden)
                              G=0./0 (Qatari)
                              G=0./0 (SGDP_PRJ)
                              G=0./0 (Siberian)
                              G=0./0 (TWINSUK)
                              G=0.00004/1 (GnomAD)
                              G=0.00743/19 (KOREAN)
                              HGVS:
                              15.

                              rs2412457 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>G,T [Show Flanks]
                                Chromosome:
                                15:39998939 (GRCh38)
                                15:40291140 (GRCh37)
                                Canonical SPDI:
                                NC_000015.10:39998938:C:G,NC_000015.10:39998938:C:T
                                Gene:
                                EIF2AK4 (Varview)
                                Functional Consequence:
                                intron_variant
                                Clinical significance:
                                benign
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                C=0./0 (1000Genomes)
                                C=0./0 (ALSPAC)
                                C=0./0 (GENOME_DK)
                                C=0./0 (GnomAD)
                                G=0./0 (KOREAN)
                                C=0./0 (Korea1K)
                                C=0./0 (NorthernSweden)
                                C=0./0 (Qatari)
                                C=0./0 (SGDP_PRJ)
                                C=0./0 (Siberian)
                                C=0./0 (TWINSUK)
                                C=0./0 (Vietnamese)
                                C=0.000016/2 (TOPMED)
                                HGVS:
                                16.

                                rs2440844 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>A,G [Show Flanks]
                                  Chromosome:
                                  10:68201611 (GRCh38)
                                  10:69961368 (GRCh37)
                                  Canonical SPDI:
                                  NC_000010.11:68201610:T:A,NC_000010.11:68201610:T:G
                                  Gene:
                                  MYPN (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Clinical significance:
                                  benign
                                  Validated:
                                  by frequency,by cluster
                                  MAF:
                                  T=0./0 (1000Genomes)
                                  T=0./0 (GENOME_DK)
                                  T=0./0 (GnomAD)
                                  T=0./0 (Korea1K)
                                  T=0./0 (NorthernSweden)
                                  T=0./0 (Qatari)
                                  T=0.00045/2 (Estonian)
                                  T=0.00538/3 (SGDP_PRJ)
                                  G=0.02806/28 (GoNL)
                                  T=0.04334/127 (KOREAN)
                                  T=0.25/2 (Siberian)
                                  HGVS:
                                  17.

                                  rs2490934 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>G,T [Show Flanks]
                                    Chromosome:
                                    10:68201513 (GRCh38)
                                    10:69961270 (GRCh37)
                                    Canonical SPDI:
                                    NC_000010.11:68201512:C:G,NC_000010.11:68201512:C:T
                                    Gene:
                                    MYPN (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Clinical significance:
                                    benign
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0./0 (1000Genomes)
                                    C=0./0 (ALSPAC)
                                    C=0./0 (GENOME_DK)
                                    C=0./0 (GnomAD)
                                    G=0./0 (KOREAN)
                                    C=0./0 (Korea1K)
                                    C=0./0 (NorthernSweden)
                                    C=0./0 (Qatari)
                                    C=0./0 (SGDP_PRJ)
                                    C=0./0 (Siberian)
                                    C=0./0 (TOPMED)
                                    C=0./0 (TWINSUK)
                                    HGVS:
                                    18.

                                    rs2490935 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G,T [Show Flanks]
                                      Chromosome:
                                      10:68201610 (GRCh38)
                                      10:69961367 (GRCh37)
                                      Canonical SPDI:
                                      NC_000010.11:68201609:A:G,NC_000010.11:68201609:A:T
                                      Gene:
                                      MYPN (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Clinical significance:
                                      benign
                                      Validated:
                                      by frequency,by cluster
                                      MAF:
                                      A=0./0 (1000Genomes)
                                      A=0./0 (GENOME_DK)
                                      A=0./0 (GnomAD)
                                      A=0./0 (Korea1K)
                                      A=0./0 (NorthernSweden)
                                      A=0./0 (Qatari)
                                      A=0.00045/2 (Estonian)
                                      A=0.00358/2 (SGDP_PRJ)
                                      A=0.057/167 (KOREAN)
                                      A=0.25/2 (Siberian)
                                      A=0.46894/468 (GoNL)
                                      HGVS:
                                      19.

                                      rs2490936 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>C,G,T [Show Flanks]
                                        Chromosome:
                                        10:68201648 (GRCh38)
                                        10:69961405 (GRCh37)
                                        Canonical SPDI:
                                        NC_000010.11:68201647:A:C,NC_000010.11:68201647:A:G,NC_000010.11:68201647:A:T
                                        Gene:
                                        MYPN (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Clinical significance:
                                        benign
                                        Validated:
                                        by frequency,by cluster
                                        MAF:
                                        A=0./0 (1000Genomes)
                                        A=0./0 (ALSPAC)
                                        A=0./0 (GENOME_DK)
                                        C=0./0 (KOREAN)
                                        A=0./0 (Korea1K)
                                        A=0./0 (NorthernSweden)
                                        A=0./0 (Qatari)
                                        A=0./0 (SGDP_PRJ)
                                        A=0./0 (Siberian)
                                        A=0./0 (TWINSUK)
                                        A=0.0001/3 (GnomAD)
                                        A=0.00045/2 (Estonian)
                                        HGVS:
                                        20.

                                        rs2490937 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>A,G,T [Show Flanks]
                                          Chromosome:
                                          10:68201651 (GRCh38)
                                          10:69961408 (GRCh37)
                                          Canonical SPDI:
                                          NC_000010.11:68201650:C:A,NC_000010.11:68201650:C:G,NC_000010.11:68201650:C:T
                                          Gene:
                                          MYPN (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Clinical significance:
                                          benign
                                          Validated:
                                          by frequency,by cluster
                                          MAF:
                                          C=0./0 (1000Genomes)
                                          C=0./0 (ALSPAC)
                                          C=0./0 (GENOME_DK)
                                          G=0./0 (KOREAN)
                                          C=0./0 (Korea1K)
                                          C=0./0 (Qatari)
                                          C=0./0 (SGDP_PRJ)
                                          C=0./0 (Siberian)
                                          C=0./0 (TWINSUK)
                                          C=0.00013/4 (GnomAD)
                                          C=0.00045/2 (Estonian)
                                          HGVS:

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