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Items: 1 to 20 of 18623577

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
    2.

    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
      3.

      rs665 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        1:23854551 (GRCh38)
        1:24181041 (GRCh37)
        Gene:
        FUCA1 (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant
        Clinical significance:
        likely-benign
        Validated:
        by frequency,by cluster
        MAF:
        T=0.000429/108 (GnomAD_exomes)
        T=0.000593/72 (ExAC)
        T=0.000998/5 (1000Genomes)
        T=0.002103/66 (GnomAD)
        T=0.002214/278 (TOPMED)
        T=0.002922/38 (GoESP)
        T=0.002986/235 (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
        5.

        rs2651 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>G [Show Flanks]
          Chromosome:
          12:123761697 (GRCh38)
          12:124246244 (GRCh37)
          Gene:
          ATP6V0A2 (Varview), DNAH10 (Varview)
          Functional Consequence:
          3_prime_UTR_variant,genic_downstream_transcript_variant,upstream_transcript_variant
          Clinical significance:
          uncertain-significance
          Validated:
          by frequency,by cluster
          MAF:
          G=0.000998/5 (1000Genomes)
          G=0.005933/22 (TWINSUK)
          G=0.006177/194 (GnomAD)
          G=0.006363/799 (TOPMED)
          G=0.008563/33 (ALSPAC)
          G=0.009375/42 (Estonian)
          G=0.021667/13 (NorthernSweden)
          HGVS:
          NC_000012.12:g.123761697T>G, NC_000012.11:g.124246244T>G, NG_012743.1:g.54380T>G, NM_012463.4:c.*3665T>G, NM_012463.3:c.*3665T>G
          6.

          rs3527 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C,G [Show Flanks]
            Chromosome:
            4:86017027 (GRCh38)
            4:86938180 (GRCh37)
            Gene:
            MAPK10 (Varview)
            Functional Consequence:
            genic_downstream_transcript_variant,3_prime_UTR_variant
            Clinical significance:
            likely-benign
            Validated:
            by frequency,by cluster
            MAF:
            C=0.001258/158 (TOPMED)
            C=0.003195/16 (1000Genomes)
            C=0.023364/5 (Vietnamese)
            HGVS:
            NC_000004.12:g.86017027T>C, NC_000004.12:g.86017027T>G, NC_000004.11:g.86938180T>C, NC_000004.11:g.86938180T>G, NG_013325.2:g.441104A>G, NG_013325.2:g.441104A>C, NM_138982.4:c.*201A>G, NM_138982.4:c.*201A>C, NM_138982.3:c.*201A>G, NM_138982.3:c.*201A>C, NM_138982.2:c.*201A>G, NM_138982.2:c.*201A>C, NM_002753.4:c.*332A>G, NM_002753.4:c.*332A>C, NM_002753.5:c.*332A>G, NM_002753.5:c.*332A>C, NM_002753.3:c.*332A>G, NM_002753.3:c.*332A>C, NM_138980.3:c.*201A>G, NM_138980.3:c.*201A>C, NM_138980.4:c.*201A>G, NM_138980.4:c.*201A>C, NM_138980.2:c.*201A>G, NM_138980.2:c.*201A>C, NM_001363657.1:c.*332A>G, NM_001363657.1:c.*332A>C, NM_001363657.2:c.*332A>G, NM_001363657.2:c.*332A>C, NM_001351625.1:c.*332A>G, NM_001351625.1:c.*332A>C, NM_001351625.2:c.*332A>G, NM_001351625.2:c.*332A>C, NM_001351624.1:c.*201A>G, NM_001351624.1:c.*201A>C, NM_001351624.2:c.*201A>G, NM_001351624.2:c.*201A>C, NM_001318069.1:c.*159A>G, NM_001318069.1:c.*159A>C, NM_001318069.2:c.*159A>G, NM_001318069.2:c.*159A>C, NM_001318068.1:c.*201A>G, NM_001318068.1:c.*201A>C, NM_001318067.1:c.*201A>G, NM_001318067.1:c.*201A>C, XM_005263135.4:c.*332A>G, XM_005263135.4:c.*332A>C, XM_005263135.1:c.*332A>G, XM_005263135.1:c.*332A>C, XM_006714269.3:c.*332A>G, XM_006714269.3:c.*332A>C, XM_005263131.3:c.*201A>G, XM_005263131.3:c.*201A>C, XM_005263131.1:c.*201A>G, XM_005263131.1:c.*201A>C, XM_006714268.3:c.*201A>G, XM_006714268.3:c.*201A>C, XM_011532118.3:c.*201A>G, XM_011532118.3:c.*201A>C, XM_011532120.3:c.*201A>G, XM_011532120.3:c.*201A>C, XM_005263129.3:c.*201A>G, XM_005263129.3:c.*201A>C, XM_005263129.1:c.*201A>G, XM_005263129.1:c.*201A>C, XM_011532117.3:c.*201A>G, XM_011532117.3:c.*201A>C, XM_005263130.3:c.*201A>G, XM_005263130.3:c.*201A>C, XM_005263130.1:c.*201A>G, XM_005263130.1:c.*201A>C, XM_011532121.3:c.*201A>G, XM_011532121.3:c.*201A>C, XM_017008420.2:c.*201A>G, XM_017008420.2:c.*201A>C, XM_017008429.2:c.*332A>G, XM_017008429.2:c.*332A>C, XM_017008434.2:c.*332A>G, XM_017008434.2:c.*332A>C, XM_017008427.2:c.*201A>G, XM_017008427.2:c.*201A>C, XM_017008448.2:c.*201A>G, XM_017008448.2:c.*201A>C, XM_017008452.2:c.*332A>G, XM_017008452.2:c.*332A>C, XM_017008449.2:c.*201A>G, XM_017008449.2:c.*201A>C, XM_017008447.2:c.*201A>G, XM_017008447.2:c.*201A>C, XM_017008441.2:c.*332A>G, XM_017008441.2:c.*332A>C, XM_017008433.2:c.*201A>G, XM_017008433.2:c.*201A>C, XM_017008450.2:c.*201A>G, XM_017008450.2:c.*201A>C, XM_017008435.2:c.*332A>G, XM_017008435.2:c.*332A>C, XM_017008451.2:c.*332A>G, XM_017008451.2:c.*332A>C, XM_017008428.2:c.*201A>G, XM_017008428.2:c.*201A>C, XM_017008445.2:c.*201A>G, XM_017008445.2:c.*201A>C, XM_017008430.2:c.*332A>G, XM_017008430.2:c.*332A>C, XM_017008432.2:c.*332A>G, XM_017008432.2:c.*332A>C, XM_017008437.2:c.*332A>G, XM_017008437.2:c.*332A>C, XM_017008436.2:c.*332A>G, XM_017008436.2:c.*332A>C, XM_017008423.2:c.*201A>G, XM_017008423.2:c.*201A>C, XM_017008422.2:c.*201A>G, XM_017008422.2:c.*201A>C, XM_024454143.1:c.*201A>G, XM_024454143.1:c.*201A>C, XM_024454141.1:c.*201A>G, XM_024454141.1:c.*201A>C, XM_024454140.1:c.*201A>G, XM_024454140.1:c.*201A>C, XM_024454144.1:c.*332A>G, XM_024454144.1:c.*332A>C, XM_024454139.1:c.*201A>G, XM_024454139.1:c.*201A>C, XM_024454142.1:c.*201A>G, XM_024454142.1:c.*201A>C, XM_024454148.1:c.*201A>G, XM_024454148.1:c.*201A>C, XM_024454145.1:c.*332A>G, XM_024454145.1:c.*332A>C, XM_024454146.1:c.*332A>G, XM_024454146.1:c.*332A>C, XM_024454147.1:c.*332A>G, XM_024454147.1:c.*332A>C
            7.

            rs3560 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>T [Show Flanks]
              Chromosome:
              14:24081123 (GRCh38)
              14:24550332 (GRCh37)
              Gene:
              NRL (Varview)
              Functional Consequence:
              3_prime_UTR_variant
              Clinical significance:
              uncertain-significance
              Validated:
              by frequency,by cluster
              MAF:
              T=0.000998/5 (1000Genomes)
              T=0.005208/654 (TOPMED)
              T=0.006148/193 (GnomAD)
              T=0.008091/30 (TWINSUK)
              T=0.008333/5 (NorthernSweden)
              T=0.009821/44 (Estonian)
              T=0.010379/40 (ALSPAC)
              HGVS:
              NC_000014.9:g.24081123G>T, NG_011697.2:g.38892C>A, NM_006177.5:c.*113C>A, NM_006177.4:c.*113C>A, NM_006177.3:c.*113C>A, NM_001354768.2:c.*113C>A, NM_001354768.1:c.*113C>A, NM_001354770.2:c.*113C>A, NM_001354770.1:c.*113C>A, NM_001354769.1:c.*113C>A, NW_018654722.1:g.382101G>T, NC_000014.8:g.24550332G>T, XM_005267709.3:c.*113C>A, XM_005267709.1:c.*113C>A, XM_011536801.2:c.*113C>A, XM_011536805.2:c.*113C>A, XM_011536806.2:c.*113C>A, XM_011536802.1:c.*113C>A, XM_011536804.2:c.*113C>A
              8.

              rs4348 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                17:63491256 (GRCh38)
                17:61568617 (GRCh37)
                Gene:
                ACE (Varview)
                Functional Consequence:
                coding_sequence_variant,synonymous_variant
                Clinical significance:
                likely-benign
                Validated:
                by frequency,by cluster
                MAF:
                T=0.002211/556 (GnomAD_exomes)
                T=0.002819/342 (ExAC)
                T=0.008063/253 (GnomAD)
                T=0.008586/43 (1000Genomes)
                T=0.009303/121 (GoESP)
                T=0.009413/1182 (TOPMED)
                HGVS:
                NC_000017.11:g.63491256C>T, NC_000017.10:g.61568617C>T, NG_011648.1:g.19184C>T, NM_000789.4:c.2787C>T, NM_000789.3:c.2787C>T, NM_152830.3:c.1065C>T, NM_152830.2:c.1065C>T, NM_001178057.2:c.1065C>T, NM_001178057.1:c.1065C>T, XM_006721737.3:c.1125C>T
                9.

                rs4537 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  8:142914376 (GRCh38)
                  8:143995792 (GRCh37)
                  Gene:
                  CYP11B2 (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant
                  Clinical significance:
                  likely-benign
                  Validated:
                  by frequency,by cluster
                  MAF:
                  C=0./0 (TWINSUK)
                  C=0.000259/1 (ALSPAC)
                  C=0.002307/579 (GnomAD_exomes)
                  C=0.00322/370 (ExAC)
                  C=0.007188/36 (1000Genomes)
                  C=0.008085/253 (GnomAD)
                  C=0.008304/108 (GoESP)
                  HGVS:
                  NC_000008.11:g.142914376T>C, NC_000008.10:g.143995792T>C, NG_046133.1:g.11019T>C, NG_008374.1:g.8468A>G, NM_000498.3:c.842A>G, NP_000489.3:p.Asn281Ser
                  10.

                  rs4766 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    4:154585887 (GRCh38)
                    4:155507039 (GRCh37)
                    Gene:
                    FGA (Varview)
                    Functional Consequence:
                    synonymous_variant,coding_sequence_variant
                    Clinical significance:
                    likely-benign
                    Validated:
                    by frequency,by cluster
                    MAF:
                    G=0.001/251 (GnomAD_exomes)
                    G=0.001063/129 (ExAC)
                    G=0.003395/17 (1000Genomes)
                    G=0.003473/109 (GnomAD)
                    G=0.003998/52 (GoESP)
                    G=0.004452/559 (TOPMED)
                    G=0.006315/497 (PAGE_STUDY)
                    HGVS:
                    NC_000004.12:g.154585887A>G, NC_000004.11:g.155507039A>G, NG_008832.1:g.9859T>C, NM_000508.4:c.1542T>C, NM_000508.5:c.1542T>C, NM_000508.3:c.1542T>C, NM_021871.4:c.1542T>C, NM_021871.3:c.1542T>C, NM_021871.2:c.1542T>C
                    11.

                    rs4819 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      19:40378026 (GRCh38)
                      19:40883933 (GRCh37)
                      Gene:
                      PLD3 (Varview)
                      Functional Consequence:
                      synonymous_variant,coding_sequence_variant
                      Clinical significance:
                      likely-benign
                      Validated:
                      by frequency,by cluster
                      MAF:
                      A=0.004878/3 (Vietnamese)
                      A=0.008586/43 (1000Genomes)
                      A=0.011787/369 (GnomAD)
                      A=0.011843/154 (GoESP)
                      A=0.012479/1567 (TOPMED)
                      A=0.012567/1515 (ExAC)
                      A=0.01328/3327 (GnomAD_exomes)
                      A=0.016667/10 (NorthernSweden)
                      A=0.016741/75 (Estonian)
                      A=0.018941/73 (ALSPAC)
                      A=0.019148/71 (TWINSUK)
                      HGVS:
                      NC_000019.10:g.40378026G>A, NC_000019.9:g.40883933G>A, NG_034098.1:g.34602G>A, NM_012268.4:c.1326G>A, NM_012268.3:c.1326G>A, NM_012268.2:c.1326G>A, NM_001031696.3:c.1326G>A, NM_001031696.2:c.1326G>A, NM_001291311.1:c.1326G>A, NG_051224.1:g.17196C>T, XM_005258710.5:c.1326G>A, XM_005258710.1:c.1326G>A, XM_005258707.4:c.1326G>A, XM_005258707.1:c.1326G>A, XM_005258709.4:c.1326G>A, XM_005258709.1:c.1326G>A, XM_005258708.4:c.1326G>A, XM_005258708.1:c.1326G>A, XM_005258704.2:c.1326G>A, XM_005258704.1:c.1326G>A, XM_006723122.1:c.1326G>A, XM_011526692.1:c.1326G>A, XM_017026546.1:c.1326G>A, XM_017026549.1:c.1326G>A, XM_011526693.1:c.1326G>A, XM_024451438.1:c.1326G>A, XM_017026548.1:c.1326G>A
                      12.
                      13.

                      rs5021 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        17:44254600 (GRCh38)
                        17:42331968 (GRCh37)
                        Gene:
                        SLC4A1 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,synonymous_variant
                        Clinical significance:
                        likely-benign,benign
                        Validated:
                        by frequency,by cluster
                        MAF:
                        A=0.001289/324 (GnomAD_exomes)
                        A=0.001635/197 (ExAC)
                        A=0.003794/19 (1000Genomes)
                        A=0.005256/660 (TOPMED)
                        A=0.005351/168 (GnomAD)
                        A=0.006459/84 (GoESP)
                        HGVS:
                        NC_000017.11:g.44254600G>A, NC_000017.10:g.42331968G>A, NG_007498.1:g.18535C>T, NM_000342.4:c.1953C>T, NM_000342.3:c.1953C>T, XM_005257593.5:c.1758C>T, XM_005257593.1:c.1758C>T, XM_011525129.2:c.1863C>T, XM_011525130.1:c.1953C>T
                        14.

                        rs5043 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          1:230702974 (GRCh38)
                          1:230838720 (GRCh37)
                          Gene:
                          AGT (Varview)
                          Functional Consequence:
                          3_prime_UTR_variant
                          Clinical significance:
                          uncertain-significance
                          Validated:
                          by frequency,by cluster
                          MAF:
                          G=0.00207/65 (GnomAD)
                          G=0.002381/299 (TOPMED)
                          G=0.003195/16 (1000Genomes)
                          HGVS:
                          NC_000001.11:g.230702974A>G, NC_000001.10:g.230838720A>G, NG_008836.2:g.16617T>C, NG_008836.1:g.16617T>C, NM_000029.4:c.*167T>C, NM_000029.3:c.*167T>C
                          15.

                          rs5044 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>C,G [Show Flanks]
                            Chromosome:
                            1:230702718 (GRCh38)
                            1:230838464 (GRCh37)
                            Gene:
                            AGT (Varview)
                            Functional Consequence:
                            3_prime_UTR_variant
                            Clinical significance:
                            uncertain-significance
                            Validated:
                            by frequency,by cluster
                            MAF:
                            C=0.005286/166 (GnomAD)
                            C=0.005791/29 (1000Genomes)
                            C=0.006475/813 (TOPMED)
                            HGVS:
                            NC_000001.11:g.230702718A>C, NC_000001.11:g.230702718A>G, NC_000001.10:g.230838464A>C, NC_000001.10:g.230838464A>G, NG_008836.2:g.16873T>G, NG_008836.2:g.16873T>C, NG_008836.1:g.16873T>G, NG_008836.1:g.16873T>C, NM_000029.4:c.*423T>G, NM_000029.4:c.*423T>C, NM_000029.3:c.*423T>G, NM_000029.3:c.*423T>C
                            16.

                            rs5047 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              1:230714505 (GRCh38)
                              1:230850251 (GRCh37)
                              Gene:
                              AGT (Varview)
                              Functional Consequence:
                              upstream_transcript_variant
                              Clinical significance:
                              uncertain-significance
                              Validated:
                              by frequency,by cluster
                              MAF:
                              T=0.003994/20 (1000Genomes)
                              T=0.009246/1161 (TOPMED)
                              T=0.01/6 (NorthernSweden)
                              T=0.014085/442 (GnomAD)
                              T=0.015309/59 (ALSPAC)
                              T=0.015372/57 (TWINSUK)
                              T=0.04308/193 (Estonian)
                              HGVS:
                              NC_000001.11:g.230714505C>T, NC_000001.10:g.230850251C>T, NG_008836.2:g.5086G>A, NG_008836.1:g.5086G>A, NM_000029.3:c.-423G>A
                              17.

                              rs5048 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                1:230714380 (GRCh38)
                                1:230850126 (GRCh37)
                                Gene:
                                AGT (Varview)
                                Functional Consequence:
                                upstream_transcript_variant
                                Clinical significance:
                                uncertain-significance
                                Validated:
                                by frequency,by cluster
                                MAF:
                                T=0.000446/2 (Estonian)
                                T=0.000956/30 (GnomAD)
                                T=0.001736/218 (TOPMED)
                                T=0.001797/9 (1000Genomes)
                                T=0.002427/9 (TWINSUK)
                                T=0.002854/11 (ALSPAC)
                                HGVS:
                                NC_000001.11:g.230714380C>T, NC_000001.10:g.230850126C>T, NG_008836.2:g.5211G>A, NG_008836.1:g.5211G>A, NM_000029.3:c.-298G>A
                                18.

                                rs5052 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A,C [Show Flanks]
                                  Chromosome:
                                  1:230714111 (GRCh38)
                                  1:230849857 (GRCh37)
                                  Gene:
                                  AGT (Varview)
                                  Functional Consequence:
                                  5_prime_UTR_variant
                                  Clinical significance:
                                  uncertain-significance
                                  Validated:
                                  by frequency,by cluster
                                  MAF:
                                  A=0.001398/7 (1000Genomes)
                                  A=0.001667/1 (NorthernSweden)
                                  A=0.002455/11 (Estonian)
                                  A=0.002965/93 (GnomAD)
                                  A=0.003385/425 (TOPMED)
                                  A=0.00467/18 (ALSPAC)
                                  A=0.005663/21 (TWINSUK)
                                  HGVS:
                                  NC_000001.11:g.230714111G>A, NC_000001.11:g.230714111G>C, NC_000001.10:g.230849857G>A, NC_000001.10:g.230849857G>C, NG_008836.2:g.5480C>T, NG_008836.2:g.5480C>G, NG_008836.1:g.5480C>T, NG_008836.1:g.5480C>G, NM_000029.4:c.-29C>T, NM_000029.4:c.-29C>G, NM_000029.3:c.-29C>T, NM_000029.3:c.-29C>G
                                  19.

                                  rs5080 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>C [Show Flanks]
                                    Chromosome:
                                    11:116835880 (GRCh38)
                                    11:116706596 (GRCh37)
                                    Gene:
                                    APOA1 (Varview), APOA1-AS (Varview)
                                    Functional Consequence:
                                    upstream_transcript_variant,coding_sequence_variant,synonymous_variant
                                    Clinical significance:
                                    benign,likely-benign
                                    Validated:
                                    by frequency,by cluster
                                    MAF:
                                    C=0./0 (TWINSUK)
                                    C=0.000259/1 (ALSPAC)
                                    C=0.000953/238 (GnomAD_exomes)
                                    C=0.001167/137 (ExAC)
                                    C=0.003195/16 (1000Genomes)
                                    C=0.003239/42 (GoESP)
                                    C=0.003377/106 (GnomAD)
                                    C=0.003456/434 (TOPMED)
                                    HGVS:
                                    NC_000011.10:g.116835880G>C, NC_000011.9:g.116706596G>C, NG_012021.1:g.6743C>G, NM_000039.2:c.732C>G, NM_000039.1:c.732C>G, NM_001318017.2:c.732C>G, NM_001318017.1:c.732C>G, NM_001318018.2:c.732C>G, NM_001318018.1:c.732C>G, NM_001318021.1:c.405C>G
                                    20.

                                    rs5088 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      1:161222461 (GRCh38)
                                      1:161192251 (GRCh37)
                                      Gene:
                                      APOA2 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,synonymous_variant
                                      Clinical significance:
                                      benign
                                      Validated:
                                      by frequency,by cluster
                                      MAF:
                                      A=0./0 (ALSPAC)
                                      A=0.00074/186 (GnomAD_exomes)
                                      A=0.000922/112 (ExAC)
                                      A=0.001618/6 (TWINSUK)
                                      A=0.002196/11 (1000Genomes)
                                      A=0.003321/417 (TOPMED)
                                      A=0.003662/115 (GnomAD)
                                      A=0.004229/55 (GoESP)
                                      A=0.005019/395 (PAGE_STUDY)
                                      HGVS:
                                      NC_000001.11:g.161222461G>A, NC_000001.10:g.161192251G>A, NG_012043.1:g.6168C>T, NM_001643.2:c.247C>T, NM_001643.1:c.247C>T

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