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1.

rs268 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    8:19956018 (GRCh38)
    8:19813529 (GRCh37)
    Gene:
    LPL (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant
    Clinical significance:
    risk-factor,pathogenic
    Validated:
    by frequency,by cluster
    MAF:
    G=0.004968/391 (PAGE_STUDY)
    G=0.005192/26 (1000Genomes)
    G=0.01091/1370 (TOPMED)
    G=0.01278/3212 (GnomAD_exomes)
    G=0.013363/1622 (ExAC)
    G=0.014485/455 (GnomAD)
    G=0.018682/72 (ALSPAC)
    G=0.019957/74 (TWINSUK)
    G=0.023884/107 (Estonian)
    G=0.028333/17 (NorthernSweden)
    HGVS:
    NC_000008.11:g.19956018A>G, NC_000008.10:g.19813529A>G, NG_008855.2:g.59302A>G, NG_008855.1:g.21948A>G, NM_000237.3:c.953A>G, NM_000237.2:c.953A>G, NP_000228.1:p.Asn318Ser
    4.

    rs4673 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G,T [Show Flanks]
      Chromosome:
      16:88646828 (GRCh38)
      16:88713236 (GRCh37)
      Gene:
      CYBA (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant
      Clinical significance:
      likely-pathogenic,benign
      Validated:
      by frequency,by cluster
      MAF:
      A=0.055738/34 (Vietnamese)
      A=0.246667/148 (NorthernSweden)
      A=0.292857/1312 (Estonian)
      A=0.302295/75763 (GnomAD_exomes)
      A=0.30917/37344 (ExAC)
      A=0.332382/1281 (ALSPAC)
      A=0.33487/10460 (GnomAD)
      A=0.335663/1681 (1000Genomes)
      A=0.344459/27102 (PAGE_STUDY)
      A=0.349118/43838 (TOPMED)
      A=0.354639/1315 (TWINSUK)
      HGVS:
      NC_000016.10:g.88646828A>G, NC_000016.10:g.88646828A>T, NC_000016.9:g.88713236A>G, NC_000016.9:g.88713236A>T, NG_007291.1:g.9222T>C, NG_007291.1:g.9222T>A, NM_000101.4:c.214T>C, NM_000101.4:c.214T>A, NM_000101.3:c.214T>C, NM_000101.3:c.214T>A, XM_011522905.3:c.214T>C, XM_011522905.3:c.214T>A, NP_000092.2:p.Tyr72His, NP_000092.2:p.Tyr72Asn, XP_011521207.1:p.Tyr72His, XP_011521207.1:p.Tyr72Asn
      5.

      rs5036 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        17:44261577 (GRCh38)
        17:42338945 (GRCh37)
        Gene:
        SLC4A1 (Varview)
        Functional Consequence:
        missense_variant,5_prime_UTR_variant,coding_sequence_variant
        Clinical significance:
        likely-benign,pathogenic,benign
        Validated:
        by frequency,by cluster
        MAF:
        C=0.011667/7 (NorthernSweden)
        C=0.01753/65 (TWINSUK)
        C=0.01808/81 (Estonian)
        C=0.021796/84 (ALSPAC)
        C=0.042433/5151 (ExAC)
        C=0.044606/11216 (GnomAD_exomes)
        C=0.047384/1487 (GnomAD)
        C=0.055285/6942 (TOPMED)
        C=0.063898/320 (1000Genomes)
        C=0.096981/7632 (PAGE_STUDY)
        HGVS:
        NC_000017.11:g.44261577T>C, NC_000017.10:g.42338945T>C, NG_007498.1:g.11558A>G, NM_000342.4:c.166A>G, NM_000342.3:c.166A>G, XM_005257593.5:c.-30A>G, XM_005257593.1:c.-30A>G, XM_011525129.2:c.166A>G, XM_011525130.1:c.166A>G, NP_000333.1:p.Lys56Glu, XP_011523431.1:p.Lys56Glu, XP_011523432.1:p.Lys56Glu
        6.

        rs5110 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>A [Show Flanks]
          Chromosome:
          11:116820918 (GRCh38)
          11:116691634 (GRCh37)
          Gene:
          APOA4 (Varview)
          Functional Consequence:
          missense_variant,coding_sequence_variant
          Clinical significance:
          pathogenic
          Validated:
          by frequency,by cluster
          MAF:
          A=0.023762/119 (1000Genomes)
          A=0.029188/2297 (PAGE_STUDY)
          A=0.047948/1505 (GnomAD)
          A=0.052285/13128 (GnomAD_exomes)
          A=0.05244/6342 (ExAC)
          A=0.053103/6668 (TOPMED)
          A=0.087648/325 (TWINSUK)
          A=0.094447/364 (ALSPAC)
          A=0.096667/58 (NorthernSweden)
          HGVS:
          NC_000011.10:g.116820918C>A, NC_000011.9:g.116691634C>A, NG_012044.1:g.7378G>T, NM_000482.4:c.1140G>T, NM_000482.3:c.1140G>T, NP_000473.2:p.Gln380His
          7.

          rs5122 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            19:44948823 (GRCh38)
            19:45452080 (GRCh37)
            Gene:
            APOC2 (Varview), APOC4-APOC2 (Varview)
            Functional Consequence:
            missense_variant,coding_sequence_variant,non_coding_transcript_variant
            Clinical significance:
            pathogenic
            Validated:
            by frequency,by cluster
            MAF:
            A=0.000482/121 (GnomAD_exomes)
            A=0.000588/71 (ExAC)
            A=0.001198/6 (1000Genomes)
            A=0.002295/72 (GnomAD)
            A=0.002349/295 (TOPMED)
            HGVS:
            NC_000019.10:g.44948823G>A, NC_000019.9:g.45452080G>A, NG_008837.1:g.7838G>A, NM_000483.5:c.178G>A, NM_000483.4:c.178G>A, NR_037932.1:n.1385G>A, NP_000474.2:p.Glu60Lys
            8.

            rs5126 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>C [Show Flanks]
              Chromosome:
              19:44949172 (GRCh38)
              19:45452429 (GRCh37)
              Gene:
              APOC2 (Varview), APOC4-APOC2 (Varview)
              Functional Consequence:
              missense_variant,coding_sequence_variant,non_coding_transcript_variant
              Clinical significance:
              pathogenic
              Validated:
              by frequency,by cluster
              MAF:
              C=0.001828/459 (GnomAD_exomes)
              C=0.002375/276 (ExAC)
              C=0.007013/220 (GnomAD)
              C=0.007788/39 (1000Genomes)
              C=0.008211/1031 (TOPMED)
              C=0.012185/959 (PAGE_STUDY)
              HGVS:
              NC_000019.10:g.44949172A>C, NC_000019.9:g.45452429A>C, NG_008837.1:g.8187A>C, NM_000483.5:c.229A>C, NM_000483.4:c.229A>C, NR_037932.1:n.1436A>C, NP_000474.2:p.Lys77Gln
              9.

              rs5736 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                16:23189600 (GRCh38)
                16:23200921 (GRCh37)
                Gene:
                SCNN1G (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant
                Clinical significance:
                likely-benign,benign,pathogenic
                Validated:
                by frequency,by cluster
                MAF:
                A=0.000223/1 (Estonian)
                A=0.000809/3 (TWINSUK)
                A=0.001038/4 (ALSPAC)
                A=0.004088/1028 (GnomAD_exomes)
                A=0.004753/577 (ExAC)
                A=0.006494/4 (Vietnamese)
                A=0.010954/344 (GnomAD)
                A=0.013172/1654 (TOPMED)
                A=0.014577/73 (1000Genomes)
                A=0.019378/1525 (PAGE_STUDY)
                HGVS:
                NC_000016.10:g.23189600G>A, NC_000016.9:g.23200921G>A, NG_011909.1:g.11882G>A, NM_001039.4:c.547G>A, NM_001039.3:c.547G>A, NP_001030.2:p.Gly183Ser
                10.

                rs5738 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  16:23189642 (GRCh38)
                  16:23200963 (GRCh37)
                  Gene:
                  SCNN1G (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant
                  Clinical significance:
                  likely-benign,benign,pathogenic
                  Validated:
                  by frequency,by cluster
                  MAF:
                  A=0.002596/13 (1000Genomes)
                  A=0.003348/15 (Estonian)
                  A=0.004396/346 (PAGE_STUDY)
                  A=0.004682/147 (GnomAD)
                  A=0.004731/574 (ExAC)
                  A=0.005027/1264 (GnomAD_exomes)
                  A=0.006196/778 (TOPMED)
                  A=0.007551/28 (TWINSUK)
                  A=0.0096/37 (ALSPAC)
                  HGVS:
                  NC_000016.10:g.23189642G>A, NC_000016.9:g.23200963G>A, NG_011909.1:g.11924G>A, NM_001039.4:c.589G>A, NM_001039.3:c.589G>A, NP_001030.2:p.Glu197Lys
                  11.

                  rs5907 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    22:20779935 (GRCh38)
                    22:21134223 (GRCh37)
                    Gene:
                    SERPIND1 (Varview), PI4KA (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant,intron_variant
                    Clinical significance:
                    pathogenic
                    Validated:
                    by frequency,by cluster
                    MAF:
                    A=0.000737/58 (PAGE_STUDY)
                    A=0.001099/138 (TOPMED)
                    A=0.001198/6 (1000Genomes)
                    A=0.00131/159 (ExAC)
                    A=0.001348/5 (TWINSUK)
                    A=0.001376/346 (GnomAD_exomes)
                    A=0.001667/1 (NorthernSweden)
                    A=0.001816/7 (ALSPAC)
                    A=0.002452/77 (GnomAD)
                    A=0.007143/32 (Estonian)
                    HGVS:
                    NC_000022.11:g.20779935G>A, NC_000022.10:g.21134223G>A, NG_033052.2:g.83878C>T, NG_033052.1:g.83878C>T, NG_012076.2:g.10841G>A, NG_012076.1:g.10841G>A, NM_000185.4:c.623G>A, NM_000185.3:c.623G>A, NP_000176.2:p.Arg208His
                    12.

                    rs6025 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      1:169549811 (GRCh38)
                      1:169519049 (GRCh37)
                      Gene:
                      F5 (Varview)
                      Functional Consequence:
                      missense_variant,coding_sequence_variant
                      Clinical significance:
                      risk-factor,pathogenic,drug-response,benign
                      Validated:
                      by frequency,by cluster
                      MAF:
                      T=0./0 (Vietnamese)
                      T=0.00599/30 (1000Genomes)
                      T=0.006175/486 (PAGE_STUDY)
                      T=0.01726/542 (GnomAD)
                      T=0.017411/78 (Estonian)
                      T=0.018333/11 (NorthernSweden)
                      T=0.019256/2418 (TOPMED)
                      T=0.01959/4922 (GnomAD_exomes)
                      T=0.021497/2608 (ExAC)
                      T=0.021575/80 (TWINSUK)
                      T=0.031396/121 (ALSPAC)
                      HGVS:
                      NC_000001.11:g.169549811C>T, NC_000001.10:g.169519049T>C, NG_011806.1:g.41721G>A, NM_000130.4:c.1601G>A, XM_017000660.2:c.1190G>A, NP_000121.2:p.Arg534Gln, XP_016856149.1:p.Arg397Gln
                      13.

                      rs6054 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        4:154568456 (GRCh38)
                        4:155489608 (GRCh37)
                        Gene:
                        FGB (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant
                        Clinical significance:
                        pathogenic,uncertain-significance
                        Validated:
                        by frequency,by cluster
                        MAF:
                        T=0.000223/1 (Estonian)
                        T=0.000998/5 (1000Genomes)
                        T=0.001029/81 (PAGE_STUDY)
                        T=0.002352/591 (GnomAD_exomes)
                        T=0.002431/295 (ExAC)
                        T=0.002585/81 (GnomAD)
                        T=0.002955/371 (TOPMED)
                        T=0.003152/41 (GoESP)
                        T=0.005708/22 (ALSPAC)
                        T=0.006667/4 (NorthernSweden)
                        T=0.006742/25 (TWINSUK)
                        HGVS:
                        NC_000004.12:g.154568456C>T, NC_000004.11:g.155489608C>T, NG_008833.1:g.10477C>T, NM_005141.4:c.794C>T, NM_001184741.1:c.617C>T, NP_005132.2:p.Pro265Leu, NP_001171670.1:p.Pro206Leu
                        14.

                        rs6063 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          4:154609725 (GRCh38)
                          4:155530877 (GRCh37)
                          Gene:
                          FGG (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant
                          Clinical significance:
                          pathogenic
                          Validated:
                          by frequency,by cluster
                          MAF:
                          T=0.001786/8 (Estonian)
                          T=0.002485/78 (GnomAD)
                          T=0.002541/200 (PAGE_STUDY)
                          T=0.002705/328 (ExAC)
                          T=0.002796/14 (1000Genomes)
                          T=0.00281/706 (GnomAD_exomes)
                          T=0.003432/431 (TOPMED)
                          T=0.003776/14 (TWINSUK)
                          T=0.005/3 (NorthernSweden)
                          T=0.006746/26 (ALSPAC)
                          HGVS:
                          NC_000004.12:g.154609725C>T, NC_000004.11:g.155530877C>T, NG_008834.1:g.8026G>A, NM_000509.5:c.571G>A, NM_000509.4:c.571G>A, NM_021870.3:c.571G>A, NM_021870.2:c.571G>A, NP_000500.2:p.Gly191Arg, NP_068656.2:p.Gly191Arg
                          15.

                          rs6122 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            3:93927251 (GRCh38)
                            3:93646095 (GRCh37)
                            Gene:
                            PROS1 (Varview)
                            Functional Consequence:
                            missense_variant,coding_sequence_variant
                            Clinical significance:
                            likely-pathogenic
                            Validated:
                            by frequency,by cluster
                            MAF:
                            A=0.000052/13 (GnomAD_exomes)
                            A=0.000058/7 (ExAC)
                            A=0.000072/9 (TOPMED)
                            A=0.0002/1 (1000Genomes)
                            A=0.000259/1 (ALSPAC)
                            A=0.00027/1 (TWINSUK)
                            HGVS:
                            NC_000003.12:g.93927251G>A, NC_000003.11:g.93646095G>A, NG_009813.1:g.51840C>T, NM_000313.3:c.233C>T, NM_001314077.1:c.329C>T, NP_000304.2:p.Thr78Met, NP_001301006.1:p.Thr110Met
                            16.

                            rs6161 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              15:74343027 (GRCh38)
                              15:74635368 (GRCh37)
                              Gene:
                              CYP11A1 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant
                              Clinical significance:
                              likely-pathogenic
                              Validated:
                              by frequency,by cluster
                              MAF:
                              T=0.000599/3 (1000Genomes)
                              T=0.000801/63 (PAGE_STUDY)
                              T=0.002238/281 (TOPMED)
                              T=0.002422/294 (ExAC)
                              T=0.002529/636 (GnomAD_exomes)
                              T=0.00258/81 (GnomAD)
                              T=0.002849/37 (GoESP)
                              T=0.004018/18 (Estonian)
                              T=0.00467/18 (ALSPAC)
                              T=0.005663/21 (TWINSUK)
                              T=0.018333/11 (NorthernSweden)
                              HGVS:
                              NC_000015.10:g.74343027C>T, NC_000015.9:g.74635368C>T, NG_007973.1:g.29715G>A, NM_000781.3:c.940G>A, NM_000781.2:c.940G>A, NM_001099773.2:c.466G>A, NM_001099773.1:c.466G>A, NP_000772.2:p.Glu314Lys, NP_001093243.1:p.Glu156Lys
                              17.

                              rs6189 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>A,T [Show Flanks]
                                Chromosome:
                                5:143400774 (GRCh38)
                                5:142780339 (GRCh37)
                                Gene:
                                NR3C1 (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant,genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,synonymous_variant,5_prime_UTR_variant
                                Clinical significance:
                                pathogenic,likely-benign
                                Validated:
                                by frequency,by cluster
                                MAF:
                                T=0.005858/461 (PAGE_STUDY)
                                T=0.010583/53 (1000Genomes)
                                T=0.015697/1971 (TOPMED)
                                T=0.017837/2163 (ExAC)
                                T=0.01857/583 (GnomAD)
                                T=0.020913/272 (GoESP)
                                T=0.022321/100 (Estonian)
                                T=0.026969/100 (TWINSUK)
                                T=0.028333/17 (NorthernSweden)
                                T=0.030358/117 (ALSPAC)
                                HGVS:
                                NC_000005.10:g.143400774C>A, NC_000005.10:g.143400774C>T, NC_000005.9:g.142780339C>A, NC_000005.9:g.142780339C>T, NG_009062.1:g.39739G>T, NG_009062.1:g.39739G>A, NM_000176.3:c.66G>T, NM_000176.3:c.66G>A, NM_000176.2:c.66G>T, NM_000176.2:c.66G>A, NM_001024094.2:c.66G>T, NM_001024094.2:c.66G>A, NM_001024094.1:c.66G>T, NM_001024094.1:c.66G>A, NM_001204264.2:c.-940G>T, NM_001204264.2:c.-940G>A, NM_001204264.1:c.-940G>T, NM_001204264.1:c.-940G>A, NM_001204263.2:c.-925G>T, NM_001204263.2:c.-925G>A, NM_001204263.1:c.-925G>T, NM_001204263.1:c.-925G>A, NM_001204262.2:c.-880G>T, NM_001204262.2:c.-880G>A, NM_001204262.1:c.-880G>T, NM_001204262.1:c.-880G>A, NM_001204261.2:c.-226G>T, NM_001204261.2:c.-226G>A, NM_001204261.1:c.-226G>T, NM_001204261.1:c.-226G>A, NM_001204260.2:c.-202G>T, NM_001204260.2:c.-202G>A, NM_001204260.1:c.-202G>T, NM_001204260.1:c.-202G>A, NM_001204259.2:c.-190G>T, NM_001204259.2:c.-190G>A, NM_001204259.1:c.-190G>T, NM_001204259.1:c.-190G>A, NM_001204258.2:c.-13G>T, NM_001204258.2:c.-13G>A, NM_001204258.1:c.-13G>T, NM_001204258.1:c.-13G>A, NM_001364183.2:c.66G>T, NM_001364183.2:c.66G>A, NM_001364183.1:c.66G>T, NM_001364183.1:c.66G>A, NM_001364181.2:c.66G>T, NM_001364181.2:c.66G>A, NM_001364181.1:c.66G>T, NM_001364181.1:c.66G>A, NM_001364180.2:c.66G>T, NM_001364180.2:c.66G>A, NM_001364180.1:c.66G>T, NM_001364180.1:c.66G>A, NM_001364184.2:c.66G>T, NM_001364184.2:c.66G>A, NM_001364184.1:c.66G>T, NM_001364184.1:c.66G>A, NM_001018076.2:c.66G>T, NM_001018076.2:c.66G>A, NM_001018076.1:c.66G>T, NM_001018076.1:c.66G>A, NM_001020825.2:c.66G>T, NM_001020825.2:c.66G>A, NM_001020825.1:c.66G>T, NM_001020825.1:c.66G>A, NM_001204265.2:c.66G>T, NM_001204265.2:c.66G>A, NM_001204265.1:c.66G>T, NM_001204265.1:c.66G>A, NM_001018077.1:c.66G>T, NM_001018077.1:c.66G>A, NM_001364185.1:c.66G>T, NM_001364185.1:c.66G>A, NM_001364182.1:c.66G>T, NM_001364182.1:c.66G>A, NM_001018074.1:c.66G>T, NM_001018074.1:c.66G>A, NM_001018075.1:c.66G>T, NM_001018075.1:c.66G>A, XM_005268422.3:c.66G>T, XM_005268422.3:c.66G>A, XM_005268422.1:c.66G>T, XM_005268422.1:c.66G>A, XM_005268423.3:c.66G>T, XM_005268423.3:c.66G>A, XM_005268423.1:c.66G>T, XM_005268423.1:c.66G>A, NP_000167.1:p.Glu22Asp, NP_001019265.1:p.Glu22Asp, NP_001351112.1:p.Glu22Asp, NP_001351110.1:p.Glu22Asp, NP_001351109.1:p.Glu22Asp, NP_001351113.1:p.Glu22Asp, NP_001018086.1:p.Glu22Asp, NP_001018661.1:p.Glu22Asp, NP_001191194.1:p.Glu22Asp, NP_001018087.1:p.Glu22Asp, NP_001351114.1:p.Glu22Asp, NP_001351111.1:p.Glu22Asp, NP_001018084.1:p.Glu22Asp, NP_001018085.1:p.Glu22Asp, XP_005268479.1:p.Glu22Asp, XP_005268480.1:p.Glu22Asp
                                18.

                                rs6256 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A,T [Show Flanks]
                                  Chromosome:
                                  11:13492506 (GRCh38)
                                  11:13514053 (GRCh37)
                                  Gene:
                                  PTH (Varview)
                                  Functional Consequence:
                                  stop_gained,coding_sequence_variant,synonymous_variant
                                  Clinical significance:
                                  benign,pathogenic
                                  Validated:
                                  by frequency,by cluster
                                  MAF:
                                  T=0.109836/67 (Vietnamese)
                                  T=0.120524/15134 (TOPMED)
                                  T=0.126756/3916 (GnomAD)
                                  T=0.128333/77 (NorthernSweden)
                                  T=0.145313/651 (Estonian)
                                  T=0.151358/758 (1000Genomes)
                                  T=0.153182/568 (TWINSUK)
                                  T=0.15698/605 (ALSPAC)
                                  T=0.161057/19544 (ExAC)
                                  HGVS:
                                  NC_000011.10:g.13492506G>A, NC_000011.10:g.13492506G>T, NC_000011.9:g.13514053G>A, NC_000011.9:g.13514053G>T, NG_008962.1:g.8515C>T, NG_008962.1:g.8515C>A, NM_000315.4:c.247C>T, NM_000315.4:c.247C>A, NM_000315.3:c.247C>T, NM_000315.3:c.247C>A, NM_000315.2:c.247C>T, NM_000315.2:c.247C>A, NM_001316352.1:c.343C>T, NM_001316352.1:c.343C>A, NP_000306.1:p.Arg83Ter, NP_001303281.1:p.Arg115Ter
                                  19.

                                  rs6336 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    1:156879126 (GRCh38)
                                    1:156848918 (GRCh37)
                                    Gene:
                                    NTRK1 (Varview)
                                    Functional Consequence:
                                    missense_variant,coding_sequence_variant
                                    Clinical significance:
                                    pathogenic,benign,benign-likely-benign
                                    Validated:
                                    by frequency,by cluster
                                    MAF:
                                    T=0.019392/1526 (PAGE_STUDY)
                                    T=0.024361/122 (1000Genomes)
                                    T=0.036411/4572 (TOPMED)
                                    T=0.037115/1164 (GnomAD)
                                    T=0.041647/10359 (GnomAD_exomes)
                                    T=0.042526/5104 (ExAC)
                                    T=0.051667/31 (NorthernSweden)
                                    T=0.055556/206 (TWINSUK)
                                    T=0.058381/225 (ALSPAC)
                                    T=0.058955/264 (Estonian)
                                    HGVS:
                                    NC_000001.11:g.156879126C>T, NC_000001.10:g.156848918C>T, NG_007493.1:g.68377C>T, NM_002529.3:c.1810C>T, NM_001012331.1:c.1792C>T, NM_001007792.1:c.1702C>T, NP_002520.2:p.His604Tyr, NP_001012331.1:p.His598Tyr, NP_001007793.1:p.His568Tyr
                                    20.

                                    rs6339 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>T [Show Flanks]
                                      Chromosome:
                                      1:156879154 (GRCh38)
                                      1:156848946 (GRCh37)
                                      Gene:
                                      NTRK1 (Varview)
                                      Functional Consequence:
                                      missense_variant,coding_sequence_variant
                                      Clinical significance:
                                      pathogenic,benign,benign-likely-benign
                                      Validated:
                                      by frequency,by cluster
                                      MAF:
                                      T=0.019428/1529 (PAGE_STUDY)
                                      T=0.022963/115 (1000Genomes)
                                      T=0.03645/4577 (TOPMED)
                                      T=0.037198/1166 (GnomAD)
                                      T=0.041676/10381 (GnomAD_exomes)
                                      T=0.042404/5101 (ExAC)
                                      T=0.051667/31 (NorthernSweden)
                                      T=0.055556/206 (TWINSUK)
                                      T=0.058482/262 (Estonian)
                                      T=0.05864/226 (ALSPAC)
                                      HGVS:
                                      NC_000001.11:g.156879154G>T, NC_000001.10:g.156848946G>T, NG_007493.1:g.68405G>T, NM_002529.3:c.1838G>T, NM_001012331.1:c.1820G>T, NM_001007792.1:c.1730G>T, NP_002520.2:p.Gly613Val, NP_001012331.1:p.Gly607Val, NP_001007793.1:p.Gly577Val

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