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Items: 1 to 20 of 8257

1.

rs248 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    8:19953315 (GRCh38)
    8:19810826 (GRCh37)
    Gene:
    LPL (Varview)
    Functional Consequence:
    coding_sequence_variant,synonymous_variant
    Clinical significance:
    benign,likely-benign
    Validated:
    by frequency,by cluster
    MAF:
    A=0.038738/194 (1000Genomes)
    A=0.049866/12534 (GnomAD_exomes)
    A=0.051312/6226 (ExAC)
    A=0.055356/6951 (TOPMED)
    A=0.065431/851 (GoESP)
    A=0.066907/2101 (GnomAD)
    A=0.06876/265 (ALSPAC)
    A=0.072816/270 (TWINSUK)
    A=0.081667/49 (NorthernSweden)
    A=0.121429/544 (Estonian)
    HGVS:
    NC_000008.11:g.19953315G>A, NC_000008.10:g.19810826G>A, NG_008855.2:g.56599G>A, NG_008855.1:g.19245G>A, NM_000237.3:c.435G>A, NM_000237.2:c.435G>A
    2.

    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
      3.

      rs300 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        8:19959376 (GRCh38)
        8:19816887 (GRCh37)
        Gene:
        LPL (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant
        Clinical significance:
        likely-benign
        Validated:
        by frequency,by cluster
        MAF:
        G=0.0008/201 (GnomAD_exomes)
        G=0.001084/131 (ExAC)
        G=0.002677/84 (GnomAD)
        G=0.003536/444 (TOPMED)
        G=0.003794/19 (1000Genomes)
        G=0.004383/57 (GoESP)
        G=0.006303/496 (PAGE_STUDY)
        HGVS:
        NC_000008.11:g.19959376A>G, NC_000008.10:g.19816887A>G, NG_008855.2:g.62660A>G, NG_008855.1:g.25306A>G, NM_000237.3:c.1135A>G, NM_000237.2:c.1135A>G, NP_000228.1:p.Thr379Ala
        4.

        rs316 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>A,T [Show Flanks]
          Chromosome:
          8:19960925 (GRCh38)
          8:19818436 (GRCh37)
          Gene:
          LPL (Varview)
          Functional Consequence:
          coding_sequence_variant,synonymous_variant
          Clinical significance:
          likely-benign
          Validated:
          by frequency,by cluster
          MAF:
          A=0.081433/50 (Vietnamese)
          A=0.115965/430 (TWINSUK)
          A=0.126667/76 (NorthernSweden)
          A=0.127141/490 (ALSPAC)
          A=0.152556/764 (1000Genomes)
          A=0.155955/19583 (TOPMED)
          A=0.158619/2063 (GoESP)
          A=0.159943/5011 (GnomAD)
          A=0.162071/12755 (PAGE_STUDY)
          A=0.169866/761 (Estonian)
          HGVS:
          NC_000008.11:g.19960925C>A, NC_000008.11:g.19960925C>T, NC_000008.10:g.19818436C>A, NC_000008.10:g.19818436C>T, NG_008855.2:g.64209C>A, NG_008855.2:g.64209C>T, NG_008855.1:g.26855C>A, NG_008855.1:g.26855C>T, NM_000237.3:c.1164C>A, NM_000237.3:c.1164C>T, NM_000237.2:c.1164C>A, NM_000237.2:c.1164C>T
          5.

          rs326 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            8:19961928 (GRCh38)
            8:19819439 (GRCh37)
            Gene:
            LPL (Varview)
            Functional Consequence:
            intron_variant
            Clinical significance:
            association
            Validated:
            by frequency,by cluster
            MAF:
            G=0.180556/39 (Vietnamese)
            G=0.263333/158 (NorthernSweden)
            G=0.272768/1222 (Estonian)
            G=0.29398/1133 (ALSPAC)
            G=0.295577/1096 (TWINSUK)
            G=0.349441/1750 (1000Genomes)
            G=0.358872/11237 (GnomAD)
            G=0.376298/47251 (TOPMED)
            G=0.392347/30873 (PAGE_STUDY)
            HGVS:
            NC_000008.11:g.19961928A>G, NC_000008.10:g.19819439A>G, NG_008855.2:g.65212A>G, NG_008855.1:g.27858A>G
            6.

            rs328 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>G [Show Flanks]
              Chromosome:
              8:19962213 (GRCh38)
              8:19819724 (GRCh37)
              Gene:
              LPL (Varview)
              Functional Consequence:
              stop_gained,coding_sequence_variant
              Clinical significance:
              likely-benign,benign
              Validated:
              by frequency,by cluster
              MAF:
              G=0.066964/300 (Estonian)
              G=0.07904/6220 (PAGE_STUDY)
              G=0.085/51 (NorthernSweden)
              G=0.086979/2728 (GnomAD)
              G=0.089712/11265 (TOPMED)
              G=0.092156/23148 (GnomAD_exomes)
              G=0.092452/463 (1000Genomes)
              G=0.093501/11340 (ExAC)
              G=0.106642/411 (ALSPAC)
              G=0.107875/400 (TWINSUK)
              G=0.127036/78 (Vietnamese)
              HGVS:
              NC_000008.11:g.19962213C>G, NC_000008.10:g.19819724C>G, NG_008855.2:g.65497C>G, NG_008855.1:g.28143C>G, NM_000237.3:c.1421C>G, NM_000237.2:c.1421C>G, NP_000228.1:p.Ser474Ter
              7.

              rs3289 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                8:19965681 (GRCh38)
                8:19823192 (GRCh37)
                Gene:
                LPL (Varview)
                Functional Consequence:
                3_prime_UTR_variant
                Clinical significance:
                likely-benign
                Validated:
                by frequency,by cluster
                MAF:
                C=0.00463/1 (Vietnamese)
                C=0.014063/63 (Estonian)
                C=0.016667/10 (NorthernSweden)
                C=0.026466/102 (ALSPAC)
                C=0.029126/108 (TWINSUK)
                C=0.035453/1113 (GnomAD)
                C=0.038903/4885 (TOPMED)
                C=0.039337/197 (1000Genomes)
                HGVS:
                NC_000008.11:g.19965681T>C, NC_000008.10:g.19823192T>C, NG_008855.2:g.68965T>C, NG_008855.1:g.31611T>C, NM_000237.3:c.*371T>C, NM_000237.2:c.*371T>C
                8.

                rs5934 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  8:19961040 (GRCh38)
                  8:19818551 (GRCh37)
                  Gene:
                  LPL (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant
                  Clinical significance:
                  likely-benign
                  Validated:
                  by frequency,by cluster
                  MAF:
                  A=0./0 (TWINSUK)
                  A=0.000223/1 (Estonian)
                  A=0.000259/1 (ALSPAC)
                  A=0.003133/787 (GnomAD_exomes)
                  A=0.003269/396 (ExAC)
                  A=0.006589/33 (1000Genomes)
                  A=0.008539/268 (GnomAD)
                  A=0.009303/121 (GoESP)
                  A=0.014015/1103 (PAGE_STUDY)
                  HGVS:
                  NC_000008.11:g.19961040G>A, NC_000008.10:g.19818551G>A, NG_008855.2:g.64324G>A, NG_008855.1:g.26970G>A, NM_000237.3:c.1279G>A, NM_000237.2:c.1279G>A, NP_000228.1:p.Ala427Thr
                  9.

                  rs13702 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>A,C [Show Flanks]
                    Chromosome:
                    8:19966981 (GRCh38)
                    8:19824492 (GRCh37)
                    Gene:
                    LPL (Varview)
                    Functional Consequence:
                    3_prime_UTR_variant
                    Clinical significance:
                    association,benign
                    Validated:
                    by frequency,by cluster
                    MAF:
                    C=0.172897/37 (Vietnamese)
                    C=0.258333/155 (NorthernSweden)
                    C=0.267857/1200 (Estonian)
                    C=0.285329/1058 (TWINSUK)
                    C=0.28905/1114 (ALSPAC)
                    C=0.334864/1677 (1000Genomes)
                    C=0.342864/10744 (GnomAD)
                    C=0.359558/45149 (TOPMED)
                    C=0.369895/29110 (PAGE_STUDY)
                    HGVS:
                    NC_000008.11:g.19966981T>A, NC_000008.11:g.19966981T>C, NC_000008.10:g.19824492T>A, NC_000008.10:g.19824492T>C, NG_008855.2:g.70265T>A, NG_008855.2:g.70265T>C, NG_008855.1:g.32911T>A, NG_008855.1:g.32911T>C, NM_000237.3:c.*1671T>A, NM_000237.3:c.*1671T>C, NM_000237.2:c.*1671T>A, NM_000237.2:c.*1671T>C
                    10.

                    rs15285 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      8:19967156 (GRCh38)
                      8:19824667 (GRCh37)
                      Gene:
                      LPL (Varview)
                      Functional Consequence:
                      3_prime_UTR_variant
                      Clinical significance:
                      benign
                      Validated:
                      by frequency,by cluster
                      MAF:
                      T=0.188679/40 (Vietnamese)
                      T=0.258333/155 (NorthernSweden)
                      T=0.267634/1199 (Estonian)
                      T=0.28425/1054 (TWINSUK)
                      T=0.287753/1109 (ALSPAC)
                      T=0.333067/1668 (1000Genomes)
                      T=0.340847/10676 (GnomAD)
                      T=0.358332/44995 (TOPMED)
                      T=0.368729/29019 (PAGE_STUDY)
                      HGVS:
                      NC_000008.11:g.19967156C>T, NC_000008.10:g.19824667C>T, NG_008855.2:g.70440C>T, NG_008855.1:g.33086C>T, NM_000237.3:c.*1846C>T, NM_000237.2:c.*1846C>T
                      11.

                      rs1059507 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        8:19966452 (GRCh38)
                        8:19823963 (GRCh37)
                        Gene:
                        LPL (Varview)
                        Functional Consequence:
                        3_prime_UTR_variant
                        Clinical significance:
                        likely-benign
                        Validated:
                        by frequency,by cluster
                        MAF:
                        T=0.092593/20 (Vietnamese)
                        T=0.126398/633 (1000Genomes)
                        T=0.144034/18086 (TOPMED)
                        T=0.145995/4579 (GnomAD)
                        T=0.14671/544 (TWINSUK)
                        T=0.159574/615 (ALSPAC)
                        T=0.16/96 (NorthernSweden)
                        T=0.181473/813 (Estonian)
                        HGVS:
                        NC_000008.11:g.19966452C>T, NC_000008.10:g.19823963C>T, NG_008855.2:g.69736C>T, NG_008855.1:g.32382C>T, NM_000237.3:c.*1142C>T, NM_000237.2:c.*1142C>T
                        12.

                        rs1059611 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          8:19967052 (GRCh38)
                          8:19824563 (GRCh37)
                          Gene:
                          LPL (Varview)
                          Functional Consequence:
                          3_prime_UTR_variant
                          Clinical significance:
                          likely-benign
                          Validated:
                          by frequency,by cluster
                          MAF:
                          C=0.077902/349 (Estonian)
                          C=0.079439/17 (Vietnamese)
                          C=0.085/51 (NorthernSweden)
                          C=0.112351/433 (ALSPAC)
                          C=0.113808/422 (TWINSUK)
                          C=0.123486/3874 (GnomAD)
                          C=0.127596/639 (1000Genomes)
                          C=0.129969/16320 (TOPMED)
                          C=0.136151/10714 (PAGE_STUDY)
                          HGVS:
                          NC_000008.11:g.19967052T>C, NC_000008.10:g.19824563T>C, NG_008855.2:g.70336T>C, NG_008855.1:g.32982T>C, NM_000237.3:c.*1742T>C, NM_000237.2:c.*1742T>C
                          13.

                          rs1121923 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            8:19951924 (GRCh38)
                            8:19809435 (GRCh37)
                            Gene:
                            LPL (Varview)
                            Functional Consequence:
                            coding_sequence_variant,synonymous_variant
                            Clinical significance:
                            benign,likely-benign
                            Validated:
                            by frequency,by cluster
                            MAF:
                            A=0.014286/64 (Estonian)
                            A=0.018333/11 (NorthernSweden)
                            A=0.026985/104 (ALSPAC)
                            A=0.033222/8353 (GnomAD_exomes)
                            A=0.033711/125 (TWINSUK)
                            A=0.034561/4195 (ExAC)
                            A=0.049121/246 (1000Genomes)
                            A=0.049598/1556 (GnomAD)
                            A=0.05585/7013 (TOPMED)
                            A=0.065662/854 (GoESP)
                            HGVS:
                            NC_000008.11:g.19951924G>A, NC_000008.10:g.19809435G>A, NG_008855.2:g.55208G>A, NG_008855.1:g.17854G>A, NM_000237.3:c.405G>A, NM_000237.2:c.405G>A
                            14.

                            rs1800590 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>G [Show Flanks]
                              Chromosome:
                              8:19939160 (GRCh38)
                              8:19796671 (GRCh37)
                              Gene:
                              LPL (Varview)
                              Functional Consequence:
                              upstream_transcript_variant
                              Clinical significance:
                              benign
                              Validated:
                              by frequency,by cluster
                              MAF:
                              G=0.001667/1 (NorthernSweden)
                              G=0.006027/27 (Estonian)
                              G=0.021536/83 (ALSPAC)
                              G=0.022654/84 (TWINSUK)
                              G=0.115188/3607 (GnomAD)
                              G=0.130336/16366 (TOPMED)
                              G=0.133986/671 (1000Genomes)
                              G=0.190981/15026 (PAGE_STUDY)
                              HGVS:
                              NC_000008.11:g.19939160T>G, NC_000008.10:g.19796671T>G, NG_008855.2:g.42444T>G, NG_008855.1:g.5090T>G
                              15.

                              rs1801177 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A,C [Show Flanks]
                                Chromosome:
                                8:19948197 (GRCh38)
                                8:19805708 (GRCh37)
                                Gene:
                                LPL (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant
                                Clinical significance:
                                other,likely-benign,risk-factor
                                Validated:
                                by frequency,by cluster
                                MAF:
                                A=0.001667/1 (NorthernSweden)
                                A=0.006027/27 (Estonian)
                                A=0.017572/88 (1000Genomes)
                                A=0.019505/612 (GnomAD)
                                A=0.020498/79 (ALSPAC)
                                A=0.021036/78 (TWINSUK)
                                A=0.023366/2934 (TOPMED)
                                A=0.026531/2088 (PAGE_STUDY)
                                HGVS:
                                NC_000008.11:g.19948197G>A, NC_000008.11:g.19948197G>C, NC_000008.10:g.19805708G>A, NC_000008.10:g.19805708G>C, NG_008855.2:g.51481G>A, NG_008855.2:g.51481G>C, NG_008855.1:g.14127G>A, NG_008855.1:g.14127G>C, NM_000237.3:c.106G>A, NM_000237.3:c.106G>C, NM_000237.2:c.106G>A, NM_000237.2:c.106G>C, NP_000228.1:p.Asp36Asn, NP_000228.1:p.Asp36His
                                16.

                                rs1803924 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>G,T [Show Flanks]
                                  Chromosome:
                                  8:19966163 (GRCh38)
                                  8:19823674 (GRCh37)
                                  Gene:
                                  LPL (Varview)
                                  Functional Consequence:
                                  3_prime_UTR_variant
                                  Clinical significance:
                                  likely-benign
                                  Validated:
                                  by frequency,by cluster
                                  MAF:
                                  T=0.078125/350 (Estonian)
                                  T=0.085/51 (NorthernSweden)
                                  T=0.089806/2805 (GnomAD)
                                  T=0.091254/457 (1000Genomes)
                                  T=0.091345/11470 (TOPMED)
                                  T=0.112091/432 (ALSPAC)
                                  T=0.112999/419 (TWINSUK)
                                  HGVS:
                                  NC_000008.11:g.19966163C>G, NC_000008.11:g.19966163C>T, NC_000008.10:g.19823674C>G, NC_000008.10:g.19823674C>T, NG_008855.2:g.69447C>G, NG_008855.2:g.69447C>T, NG_008855.1:g.32093C>G, NG_008855.1:g.32093C>T, NM_000237.3:c.*853C>G, NM_000237.3:c.*853C>T, NM_000237.2:c.*853C>G, NM_000237.2:c.*853C>T
                                  17.

                                  rs3200218 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G,T [Show Flanks]
                                    Chromosome:
                                    8:19966560 (GRCh38)
                                    8:19824071 (GRCh37)
                                    Gene:
                                    LPL (Varview)
                                    Functional Consequence:
                                    3_prime_UTR_variant
                                    Clinical significance:
                                    likely-benign
                                    Validated:
                                    by frequency,by cluster
                                    MAF:
                                    G=0.11215/24 (Vietnamese)
                                    G=0.148762/745 (1000Genomes)
                                    G=0.188695/23694 (TOPMED)
                                    G=0.211567/6636 (GnomAD)
                                    G=0.236118/910 (ALSPAC)
                                    G=0.24973/926 (TWINSUK)
                                    G=0.276667/166 (NorthernSweden)
                                    G=0.291741/1307 (Estonian)
                                    HGVS:
                                    NC_000008.11:g.19966560A>G, NC_000008.11:g.19966560A>T, NC_000008.10:g.19824071A>G, NC_000008.10:g.19824071A>T, NG_008855.2:g.69844A>G, NG_008855.2:g.69844A>T, NG_008855.1:g.32490A>G, NG_008855.1:g.32490A>T, NM_000237.3:c.*1250A>G, NM_000237.3:c.*1250A>T, NM_000237.2:c.*1250A>G, NM_000237.2:c.*1250A>T
                                    18.

                                    rs3208305 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>T [Show Flanks]
                                      Chromosome:
                                      8:19966137 (GRCh38)
                                      8:19823648 (GRCh37)
                                      Gene:
                                      LPL (Varview)
                                      Functional Consequence:
                                      3_prime_UTR_variant
                                      Clinical significance:
                                      benign
                                      Validated:
                                      by frequency,by cluster
                                      MAF:
                                      T=0.255/153 (NorthernSweden)
                                      T=0.260753/1164 (Estonian)
                                      T=0.285329/1058 (TWINSUK)
                                      T=0.288791/1113 (ALSPAC)
                                      T=0.33746/1690 (1000Genomes)
                                      T=0.34501/10696 (GnomAD)
                                      T=0.363134/45598 (TOPMED)
                                      T=0.375429/29544 (PAGE_STUDY)
                                      HGVS:
                                      NC_000008.11:g.19966137A>T, NC_000008.10:g.19823648A>T, NG_008855.2:g.69421A>T, NG_008855.1:g.32067A>T, NM_000237.3:c.*827A>T, NM_000237.2:c.*827A>T
                                      19.

                                      rs3735959 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>C,G,T [Show Flanks]
                                        Chromosome:
                                        8:19951968 (GRCh38)
                                        8:19809479 (GRCh37)
                                        Gene:
                                        LPL (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Clinical significance:
                                        benign
                                        Validated:
                                        by frequency,by cluster
                                        MAF:
                                        C=0./0 (TWINSUK)
                                        C=0.000154/2 (GoESP)
                                        C=0.000259/1 (ALSPAC)
                                        C=0.002326/73 (GnomAD)
                                        C=0.003894/489 (TOPMED)
                                        C=0.01278/64 (1000Genomes)
                                        C=0.042345/26 (Vietnamese)
                                        HGVS:
                                        NC_000008.11:g.19951968A>C, NC_000008.11:g.19951968A>G, NC_000008.11:g.19951968A>T, NC_000008.10:g.19809479A>C, NC_000008.10:g.19809479A>G, NC_000008.10:g.19809479A>T, NG_008855.2:g.55252A>C, NG_008855.2:g.55252A>G, NG_008855.2:g.55252A>T, NG_008855.1:g.17898A>C, NG_008855.1:g.17898A>G, NG_008855.1:g.17898A>T
                                        20.

                                        rs3735964 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>A [Show Flanks]
                                          Chromosome:
                                          8:19966534 (GRCh38)
                                          8:19824045 (GRCh37)
                                          Gene:
                                          LPL (Varview)
                                          Functional Consequence:
                                          3_prime_UTR_variant
                                          Clinical significance:
                                          likely-benign
                                          Validated:
                                          by frequency,by cluster
                                          MAF:
                                          A=0.074766/16 (Vietnamese)
                                          A=0.077583/6105 (PAGE_STUDY)
                                          A=0.078125/350 (Estonian)
                                          A=0.085/51 (NorthernSweden)
                                          A=0.089414/2806 (GnomAD)
                                          A=0.090256/452 (1000Genomes)
                                          A=0.091241/11457 (TOPMED)
                                          A=0.11261/434 (ALSPAC)
                                          A=0.113538/421 (TWINSUK)
                                          HGVS:
                                          NC_000008.11:g.19966534C>A, NC_000008.10:g.19824045C>A, NG_008855.2:g.69818C>A, NG_008855.1:g.32464C>A, NM_000237.3:c.*1224C>A, NM_000237.2:c.*1224C>A

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