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Items: 1 to 20 of 686600501

1.

rs248 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    8:19953315
    Gene:
    LPL (Varview)
    Functional Consequence:
    coding_sequence_variant,synonymous_variant
    Clinical significance:
    likely-benign,benign
    Validated:
    by frequency,by cluster
    MAF:
    A=0.0387/194 (1000Genomes)
    A=0.0499/12534 (GnomAD_exomes)
    A=0.0513/6226 (ExAC)
    A=0.0554/6951 (TOPMED)
    A=0.0654/851 (GoESP)
    A=0.0669/2101 (GnomAD)
    A=0.0688/265 (ALSPAC)
    A=0.0728/270 (TWINSUK)
    A=0.0817/49 (NorthernSweden)
    A=0.1214/544 (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
      Gene:
      LPL (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant
      Clinical significance:
      pathogenic,risk-factor
      Validated:
      by frequency,by cluster
      MAF:
      G=0.0050/391 (PAGE_STUDY)
      G=0.0052/26 (1000Genomes)
      G=0.0109/1370 (TOPMED)
      G=0.0128/3212 (GnomAD_exomes)
      G=0.0134/1622 (ExAC)
      G=0.0145/455 (GnomAD)
      G=0.0187/72 (ALSPAC)
      G=0.0200/74 (TWINSUK)
      G=0.0239/107 (Estonian)
      G=0.0283/17 (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
        Gene:
        LPL (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant
        Clinical significance:
        likely-benign
        Validated:
        by frequency,by cluster
        MAF:
        G=0.0008/201 (GnomAD_exomes)
        G=0.0011/131 (ExAC)
        G=0.0027/84 (GnomAD)
        G=0.0035/444 (TOPMED)
        G=0.0038/19 (1000Genomes)
        G=0.0044/57 (GoESP)
        G=0.0063/496 (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
          Gene:
          LPL (Varview)
          Functional Consequence:
          coding_sequence_variant,synonymous_variant
          Clinical significance:
          likely-benign
          Validated:
          by frequency,by cluster
          MAF:
          A=0.0814/50 (Vietnamese)
          A=0.1160/430 (TWINSUK)
          A=0.1267/76 (NorthernSweden)
          A=0.1271/490 (ALSPAC)
          A=0.1526/764 (1000Genomes)
          A=0.1560/19583 (TOPMED)
          A=0.1586/2063 (GoESP)
          A=0.1599/5011 (GnomAD)
          A=0.1621/12755 (PAGE_STUDY)
          A=0.1699/761 (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
            Gene:
            LPL (Varview)
            Functional Consequence:
            intron_variant
            Clinical significance:
            association
            Validated:
            by frequency,by cluster
            MAF:
            G=0.1806/39 (Vietnamese)
            G=0.2633/158 (NorthernSweden)
            G=0.2728/1222 (Estonian)
            G=0.2940/1133 (ALSPAC)
            G=0.2956/1096 (TWINSUK)
            G=0.3494/1750 (1000Genomes)
            G=0.3589/11237 (GnomAD)
            G=0.3763/47251 (TOPMED)
            G=0.3923/30873 (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
              Gene:
              LPL (Varview)
              Functional Consequence:
              coding_sequence_variant,stop_gained
              Clinical significance:
              likely-benign,benign
              Validated:
              by frequency,by cluster
              MAF:
              G=0.0670/300 (Estonian)
              G=0.0790/6220 (PAGE_STUDY)
              G=0.0850/51 (NorthernSweden)
              G=0.0870/2728 (GnomAD)
              G=0.0897/11265 (TOPMED)
              G=0.0922/23148 (GnomAD_exomes)
              G=0.0925/463 (1000Genomes)
              G=0.0935/11340 (ExAC)
              G=0.1066/411 (ALSPAC)
              G=0.1079/400 (TWINSUK)
              G=0.1270/78 (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.

              rs333 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                ACAGTCAGTATCAATTCTGGAAGAATTTCCAGACA>ACA [Show Flanks]
                Chromosome:
                3:46373453
                Gene:
                CCR5 (Varview), LOC102724297 (Varview)
                Functional Consequence:
                intron_variant,frameshift,coding_sequence_variant
                Clinical significance:
                risk-factor,protective
                Validated:
                by frequency,by cluster
                MAF:
                -=0.0046/1 (Vietnamese)
                -=0.0247/1940 (PAGE_STUDY)
                -=0.0292/146 (1000Genomes)
                -=0.0604/755 (GoESP)
                -=0.0726/8805 (ExAC)
                -=0.0742/275 (TWINSUK)
                -=0.0743/18640 (GnomAD_exomes)
                -=0.0774/2427 (GnomAD)
                -=0.0937/361 (ALSPAC)
                -=0.1067/64 (NorthernSweden)
                -=0.1179/528 (Estonian)
                HGVS:
                NC_000003.12:g.46373456_46373487del, NC_000003.11:g.46414947_46414978del, NG_012637.1:g.8315_8346del, NM_000579.3:c.554_585del, NM_001100168.1:c.554_585del, NP_000570.1:p.Ser185fs, NP_001093638.1:p.Ser185fs
                9.

                rs544 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>C,G [Show Flanks]
                  Chromosome:
                  5:10264850
                  Gene:
                  CCT5 (Varview)
                  Functional Consequence:
                  3_prime_UTR_variant
                  Clinical significance:
                  benign
                  Validated:
                  by frequency,by cluster
                  MAF:
                  A=0.1267/76 (NorthernSweden)
                  A=0.1346/603 (Estonian)
                  A=0.1414/545 (ALSPAC)
                  A=0.1478/548 (TWINSUK)
                  A=0.1481/32 (Vietnamese)
                  A=0.2568/8058 (GnomAD)
                  A=0.2668/33506 (TOPMED)
                  A=0.3143/1574 (1000Genomes)
                  HGVS:
                  NC_000005.10:g.10264850A>C, NC_000005.10:g.10264850A>G, NC_000005.9:g.10264962A>C, NC_000005.9:g.10264962A>G, NG_012160.1:g.19681A>C, NG_012160.1:g.19681A>G, NM_012073.5:c.*67A>C, NM_012073.5:c.*67A>G, NM_012073.4:c.*67A>C, NM_012073.4:c.*67A>G, NM_012073.3:c.*67A>C, NM_012073.3:c.*67A>G, NM_001306154.1:c.*67A>C, NM_001306154.1:c.*67A>G, NM_001306156.1:c.*67A>C, NM_001306156.1:c.*67A>G, NM_001306155.1:c.*67A>C, NM_001306155.1:c.*67A>G, NM_001306153.1:c.*67A>C, NM_001306153.1:c.*67A>G
                  10.

                  rs551 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    4:109740781
                    Gene:
                    CFI (Varview)
                    Functional Consequence:
                    intron_variant,genic_downstream_transcript_variant,downstream_transcript_variant,3_prime_UTR_variant
                    Clinical significance:
                    benign
                    Validated:
                    by frequency,by cluster
                    MAF:
                    G=0.0000/0 (ALSPAC)
                    G=0.0000/0 (NorthernSweden)
                    G=0.0000/0 (TWINSUK)
                    G=0.0000/0 (Vietnamese)
                    G=0.0107/1926 (GnomAD_exomes)
                    G=0.0118/678 (ExAC)
                    G=0.0457/1435 (GnomAD)
                    G=0.0463/232 (1000Genomes)
                    G=0.0504/6327 (TOPMED)
                    HGVS:
                    NC_000004.12:g.109740781G>A, NC_000004.11:g.110661937G>A, NG_007569.1:g.66205C>T, NM_000204.4:c.*112C>T, NM_000204.3:c.*112C>T, NM_001318057.2:c.*112C>T, NM_001318057.1:c.*112C>T, NM_001331035.2:c.*112C>T, NM_001331035.1:c.*112C>T
                    11.

                    rs553 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A,T [Show Flanks]
                      Chromosome:
                      6:131890900
                      Gene:
                      ENPP1 (Varview)
                      Functional Consequence:
                      3_prime_UTR_variant
                      Clinical significance:
                      benign
                      Validated:
                      by frequency,by cluster
                      MAF:
                      A=0.0288/129 (Estonian)
                      A=0.0400/24 (NorthernSweden)
                      A=0.0488/181 (TWINSUK)
                      A=0.0501/193 (ALSPAC)
                      A=0.1094/3430 (GnomAD)
                      A=0.1162/582 (1000Genomes)
                      A=0.1233/15488 (TOPMED)
                      HGVS:
                      NC_000006.12:g.131890900G>A, NC_000006.12:g.131890900G>T, NC_000006.11:g.132212040G>A, NC_000006.11:g.132212040G>T, NG_008206.1:g.87885G>A, NG_008206.1:g.87885G>T, NM_006208.3:c.*389G>A, NM_006208.3:c.*389G>T, NM_006208.2:c.*389G>A, NM_006208.2:c.*389G>T
                      12.

                      rs567 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        5:53683267
                        Gene:
                        NDUFS4 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
                        Clinical significance:
                        likely-benign
                        Validated:
                        by frequency,by cluster
                        MAF:
                        A=0.3241/70 (Vietnamese)
                        A=0.3786/1896 (1000Genomes)
                        A=0.3790/29414 (PAGE_STUDY)
                        A=0.3883/233 (NorthernSweden)
                        A=0.4082/51254 (TOPMED)
                        A=0.4195/5456 (GoESP)
                        A=0.4201/13149 (GnomAD)
                        A=0.4485/53491 (ExAC)
                        A=0.4565/113385 (GnomAD_exomes)
                        A=0.4795/1848 (ALSPAC)
                        A=0.4797/2149 (Estonian)
                        A=0.4873/1807 (TWINSUK)
                        HGVS:
                        NC_000005.10:g.53683267G>A, NC_000005.9:g.52979097G>A, NG_008200.1:g.127633G>A, NM_002495.4:c.*46G>A, NM_002495.3:c.*46G>A, NM_002495.2:c.*46G>A, NR_134473.1:n.776G>A, NR_134475.1:n.728G>A, NR_134474.1:n.693G>A, NM_001318051.1:c.*137G>A, NM_001318051.2:c.*137G>A
                        13.

                        rs576 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          3:69967316
                          Gene:
                          MITF (Varview)
                          Functional Consequence:
                          genic_downstream_transcript_variant,3_prime_UTR_variant
                          Clinical significance:
                          benign
                          Validated:
                          by frequency,by cluster
                          MAF:
                          T=0.2453/52 (Vietnamese)
                          T=0.2789/1034 (TWINSUK)
                          T=0.2914/1123 (ALSPAC)
                          T=0.3250/1456 (Estonian)
                          T=0.3267/196 (NorthernSweden)
                          T=0.3368/42296 (TOPMED)
                          T=0.3369/10545 (GnomAD)
                          T=0.3411/1708 (1000Genomes)
                          HGVS:
                          NC_000003.12:g.69967316C>T, NC_000003.11:g.70016467C>T, NG_011631.1:g.232835C>T, NM_198159.3:c.*2068C>T, NM_198159.2:c.*2068C>T, NM_198177.3:c.*2068C>T, NM_198177.2:c.*2068C>T, NM_000248.3:c.*2068C>T, NM_198158.3:c.*2068C>T, NM_198158.2:c.*2068C>T, NM_198178.3:c.*2068C>T, NM_198178.2:c.*2068C>T, NM_001354607.2:c.*2068C>T, NM_001354607.1:c.*2068C>T, NM_001354608.2:c.*2068C>T, NM_001354608.1:c.*2068C>T, NM_001354604.2:c.*2068C>T, NM_001354604.1:c.*2068C>T, NM_001354605.2:c.*2068C>T, NM_001354605.1:c.*2068C>T, NM_001354606.2:c.*2068C>T, NM_001354606.1:c.*2068C>T, NM_001184967.2:c.*2068C>T, NM_001184967.1:c.*2068C>T, NM_006722.2:c.*2068C>T
                          15.

                          rs662 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            7:95308134
                            Gene:
                            PON1 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,missense_variant
                            Clinical significance:
                            association,risk-factor
                            Validated:
                            by frequency,by cluster
                            MAF:
                            C=0.2480/1111 (Estonian)
                            C=0.2533/152 (NorthernSweden)
                            C=0.2789/1034 (TWINSUK)
                            C=0.2903/1119 (ALSPAC)
                            C=0.3770/45735 (ExAC)
                            C=0.3784/95101 (GnomAD_exomes)
                            C=0.4072/12746 (GnomAD)
                            C=0.4394/55176 (TOPMED)
                            T=0.2948/181 (Vietnamese)
                            T=0.4288/33741 (PAGE_STUDY)
                            T=0.4571/2289 (1000Genomes)
                            HGVS:
                            NC_000007.14:g.95308134T>C, NC_000007.13:g.94937446T>C, NG_008779.2:g.21573A>G, NM_000446.7:c.575A>G, NM_000446.6:c.575A>G, NM_000446.5:c.575A>G, NP_000437.3:p.Gln192Arg
                            16.

                            rs665 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              1:23854551
                              Gene:
                              FUCA1 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant
                              Clinical significance:
                              likely-benign
                              Validated:
                              by frequency,by cluster
                              MAF:
                              T=0.0004/108 (GnomAD_exomes)
                              T=0.0006/72 (ExAC)
                              T=0.0010/5 (1000Genomes)
                              T=0.0021/66 (GnomAD)
                              T=0.0022/278 (TOPMED)
                              T=0.0029/38 (GoESP)
                              T=0.0030/235 (PAGE_STUDY)
                              HGVS:
                              NC_000001.11:g.23854551C>T, NC_000001.10:g.24181041C>T, NG_013346.1:g.18819G>A, NM_000147.4:c.778G>A, XM_005245821.3:c.403G>A, XM_005245821.1:c.403G>A, XM_011541167.3:c.145G>A, XM_017000905.2:c.475G>A, NP_000138.2:p.Val260Ile, XP_005245878.1:p.Val135Ile, XP_011539469.1:p.Val49Ile, XP_016856394.1:p.Val159Ile
                              17.

                              rs669 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                12:9079672
                                Gene:
                                A2M (Varview), KLRG1 (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant,intron_variant,genic_downstream_transcript_variant
                                Clinical significance:
                                risk-factor,benign
                                Validated:
                                by frequency,by cluster
                                MAF:
                                C=0.0962/59 (Vietnamese)
                                C=0.2544/1274 (1000Genomes)
                                C=0.2804/22064 (PAGE_STUDY)
                                C=0.3095/38868 (TOPMED)
                                C=0.3098/77045 (GnomAD_exomes)
                                C=0.3102/37096 (ExAC)
                                C=0.3374/1251 (TWINSUK)
                                C=0.3385/10612 (GnomAD)
                                C=0.3448/1329 (ALSPAC)
                                C=0.3650/219 (NorthernSweden)
                                C=0.4051/1815 (Estonian)
                                HGVS:
                                NC_000012.12:g.9079672T>C, NC_000012.11:g.9232268T>C, NG_011717.1:g.41291A>G, NM_000014.5:c.2998A>G, NM_000014.4:c.2998A>G, NM_001347423.2:c.2998A>G, NM_001347423.1:c.2998A>G, NM_001347424.1:c.2698A>G, NM_001347425.1:c.2548A>G, XM_006719056.3:c.2998A>G, NP_000005.2:p.Ile1000Val, NP_001334352.2:p.Ile1000Val, NP_001334353.1:p.Ile900Val, NP_001334354.1:p.Ile850Val, XP_006719119.1:p.Ile1000Val
                                18.

                                rs671 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  12:111803962
                                  Gene:
                                  ALDH2 (Varview)
                                  Functional Consequence:
                                  missense_variant,coding_sequence_variant
                                  Clinical significance:
                                  protective,risk-factor,drug-response
                                  Validated:
                                  by frequency,by cluster
                                  MAF:
                                  A=0.0000/0 (TWINSUK)
                                  A=0.0010/4 (ALSPAC)
                                  A=0.0134/420 (GnomAD)
                                  A=0.0156/1960 (TOPMED)
                                  A=0.0189/4582 (GnomAD_exomes)
                                  A=0.0213/1878 (ExAC)
                                  A=0.0272/2138 (PAGE_STUDY)
                                  A=0.0357/179 (1000Genomes)
                                  A=0.2086/126 (Vietnamese)
                                  HGVS:
                                  NC_000012.12:g.111803962G>A, NC_000012.11:g.112241766G>A, NG_012250.1:g.42421G>A, NG_012250.2:g.42076G>A, NM_000690.3:c.1510G>A, NM_000690.4:c.1510G>A, NM_001204889.1:c.1369G>A, NM_001204889.2:c.1369G>A, NP_000681.2:p.Glu504Lys, NP_001191818.1:p.Glu457Lys
                                  19.

                                  rs674 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    12:64716361
                                    Gene:
                                    GNS (Varview)
                                    Functional Consequence:
                                    3_prime_UTR_variant
                                    Clinical significance:
                                    benign
                                    Validated:
                                    by frequency,by cluster
                                    MAF:
                                    G=0.1179/25 (Vietnamese)
                                    G=0.2843/1424 (1000Genomes)
                                    G=0.3528/11062 (GnomAD)
                                    G=0.3640/45713 (TOPMED)
                                    G=0.3701/1658 (Estonian)
                                    G=0.4050/243 (NorthernSweden)
                                    G=0.4061/1565 (ALSPAC)
                                    G=0.4132/1532 (TWINSUK)
                                    HGVS:
                                    NC_000012.12:g.64716361G>A, NC_000012.11:g.65110141G>A, NG_008955.1:g.48086C>T, NM_002076.4:c.*380C>T, NM_002076.3:c.*380C>T
                                    20.

                                    rs678 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G,T [Show Flanks]
                                      Chromosome:
                                      3:52786965
                                      Gene:
                                      ITIH1 (Varview)
                                      Functional Consequence:
                                      missense_variant,coding_sequence_variant
                                      Clinical significance:
                                      benign
                                      Validated:
                                      by frequency,by cluster
                                      MAF:
                                      T=0.1836/103 (Vietnamese)
                                      T=0.2869/1437 (1000Genomes)
                                      T=0.3004/3907 (GoESP)
                                      T=0.3091/9643 (GnomAD)
                                      T=0.3148/39532 (TOPMED)
                                      T=0.3501/1298 (TWINSUK)
                                      T=0.3522/42268 (ExAC)
                                      T=0.3550/1368 (ALSPAC)
                                      T=0.3550/213 (NorthernSweden)
                                      T=0.3579/89532 (GnomAD_exomes)
                                      T=0.3912/1752 (Estonian)
                                      HGVS:
                                      NC_000003.12:g.52786965A>G, NC_000003.12:g.52786965A>T, NC_000003.11:g.52820981A>G, NC_000003.11:g.52820981A>T, NG_016005.1:g.14374A>G, NG_016005.1:g.14374A>T, NM_002215.4:c.1754A>G, NM_002215.4:c.1754A>T, NM_002215.3:c.1754A>G, NM_002215.3:c.1754A>T, NM_001166434.2:c.1328A>G, NM_001166434.2:c.1328A>T, NM_001166434.3:c.1328A>G, NM_001166434.3:c.1328A>T, NM_001166435.2:c.890A>G, NM_001166435.2:c.890A>T, NM_001166436.2:c.890A>G, NM_001166436.2:c.890A>T, NP_002206.2:p.Glu585Gly, NP_002206.2:p.Glu585Val, NP_001159906.1:p.Glu443Gly, NP_001159906.1:p.Glu443Val, NP_001159907.1:p.Glu297Gly, NP_001159907.1:p.Glu297Val, NP_001159908.1:p.Glu297Gly, NP_001159908.1:p.Glu297Val

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