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Links from Gene

Items: 1 to 20 of 31385

1.

rs1491577057 [Homo sapiens]
    Variant type:
    INS
    Alleles:
    ->T,TAT,TATATAATATATATT,TT [Show Flanks]
    Chromosome:
    6:160653974 (GRCh38)
    6:161075007 (GRCh37)
    Canonical SPDI:
    NC_000006.12:160653974::T,NC_000006.12:160653974::TAT,NC_000006.12:160653974::TATATAATATATATT,NC_000006.12:160653974::TT
    Gene:
    LPA (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TAT=0./0 (ALFA)
    TATATAATATATATT=0.0002/3 (GnomAD)
    TT=0.00039/6 (TOMMO)
    HGVS:
    2.

    rs1491561545 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      TATA>-,TA,TATATA [Show Flanks]
      Chromosome:
      6:160654017 (GRCh38)
      6:161075049 (GRCh37)
      Canonical SPDI:
      NC_000006.12:160654012:TATATATA:TATA,NC_000006.12:160654012:TATATATA:TATATA,NC_000006.12:160654012:TATATATA:TATATATATA
      Gene:
      LPA (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      TATATA=0./0 (ALFA)
      -=0.00008/2 (TOMMO)
      -=0.00127/4 (GnomAD)
      HGVS:
      3.

      rs1491553851 [Homo sapiens]
        Variant type:
        INS
        Alleles:
        ->TG,TGTG [Show Flanks]
        Chromosome:
        6:160631990 (GRCh38)
        6:161053023 (GRCh37)
        Canonical SPDI:
        NC_000006.12:160631990::TG,NC_000006.12:160631990::TGTG
        Gene:
        LPA (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by cluster
        MAF:
        TG=0.00006/1 (TOMMO)
        HGVS:
        4.

        rs1491552116 [Homo sapiens]
          Variant type:
          INS
          Alleles:
          ->C,G [Show Flanks]
          Chromosome:
          6:160553918 (GRCh38)
          6:160974951 (GRCh37)
          Canonical SPDI:
          NC_000006.12:160553918::C,NC_000006.12:160553918::G
          Gene:
          LPA (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by cluster
          HGVS:
          5.

          rs1491544255 [Homo sapiens]
            Variant type:
            INS
            Alleles:
            ->TG [Show Flanks]
            Chromosome:
            6:160643082 (GRCh38)
            6:161064115 (GRCh37)
            Canonical SPDI:
            NC_000006.12:160643082::TG
            Gene:
            LPA (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            TG=0./0 (ALFA)
            TG=0.00001/1 (GnomAD)
            HGVS:
            6.

            rs1491526570 [Homo sapiens]
              Variant type:
              INS
              Alleles:
              ->TACC,TATATATATATATATATGTATG,TGGG [Show Flanks]
              Chromosome:
              6:160576366 (GRCh38)
              6:160997399 (GRCh37)
              Canonical SPDI:
              NC_000006.12:160576366::TACC,NC_000006.12:160576366::TATATATATATATATATGTATG,NC_000006.12:160576366::TGGG
              Gene:
              LPA (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              TGGG=0./0 (ALFA)
              TATATATATATATATATGTATG=0.00009/2 (GnomAD)
              HGVS:
              7.

              rs1491513338 [Homo sapiens]
                Variant type:
                SNV:
                Alleles:
                ->TCTTCT
                Chromosome:
                no mapping
                Canonical SPDI:
                8.

                rs1491494055 [Homo sapiens]
                  Variant type:
                  INS
                  Alleles:
                  ->C,T,TAT,TATT,TT [Show Flanks]
                  Chromosome:
                  6:160653958 (GRCh38)
                  6:161074991 (GRCh37)
                  Canonical SPDI:
                  NC_000006.12:160653958::C,NC_000006.12:160653958::T,NC_000006.12:160653958::TAT,NC_000006.12:160653958::TATT,NC_000006.12:160653958::TT
                  Gene:
                  LPA (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  TT=0.00004/1 (TOMMO)
                  HGVS:
                  9.

                  rs1491445074 [Homo sapiens]
                    Variant type:
                    SNV:
                    Alleles:
                    ->TGTGTGCGTGTGTGTGTGTGTGTG
                    Chromosome:
                    no mapping
                    Canonical SPDI:
                    10.

                    rs1491444423 [Homo sapiens]
                      Variant type:
                      INS
                      Alleles:
                      ->A,ACA,G [Show Flanks]
                      Chromosome:
                      6:160654090 (GRCh38)
                      6:161075123 (GRCh37)
                      Canonical SPDI:
                      NC_000006.12:160654090::A,NC_000006.12:160654090::ACA,NC_000006.12:160654090::G
                      Gene:
                      LPA (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      ACA=0./0 (ALFA)
                      HGVS:
                      11.

                      rs1491437537 [Homo sapiens]
                        Variant type:
                        DEL
                        Alleles:
                        CC>- [Show Flanks]
                        Chromosome:
                        6:160584242 (GRCh38)
                        6:161005274 (GRCh37)
                        Canonical SPDI:
                        NC_000006.12:160584241:CC:
                        Gene:
                        LPA (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by cluster
                        MAF:
                        -=0.00071/54 (GnomAD)
                        HGVS:
                        12.

                        rs1491411171 [Homo sapiens]
                          Variant type:
                          DEL
                          Alleles:
                          TT>- [Show Flanks]
                          Chromosome:
                          6:160654090 (GRCh38)
                          6:161075122 (GRCh37)
                          Canonical SPDI:
                          NC_000006.12:160654089:TT:
                          Gene:
                          LPA (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          -=0./0 (ALFA)
                          -=0.00018/3 (TOMMO)
                          -=0.0002/4 (GnomAD)
                          HGVS:
                          13.

                          rs1491374482 [Homo sapiens]
                            Variant type:
                            DEL
                            Alleles:
                            AA>- [Show Flanks]
                            Chromosome:
                            6:160653958 (GRCh38)
                            6:161074990 (GRCh37)
                            Canonical SPDI:
                            NC_000006.12:160653957:AA:
                            Gene:
                            LPA (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            -=0./0 (ALFA)
                            -=0.00025/10 (GnomAD)
                            HGVS:
                            14.

                            rs1491373215 has merged into rs10526739 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              TGTGTGTGTG>-,TG,TGTG,TGTGTG,TGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTGTG,TGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTG [Show Flanks]
                              Chromosome:
                              6:160608834 (GRCh38)
                              6:161029866 (GRCh37)
                              Canonical SPDI:
                              NC_000006.12:160608819:TGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTG,NC_000006.12:160608819:TGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTG,NC_000006.12:160608819:TGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTG,NC_000006.12:160608819:TGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTG,NC_000006.12:160608819:TGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTG,NC_000006.12:160608819:TGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000006.12:160608819:TGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000006.12:160608819:TGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000006.12:160608819:TGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000006.12:160608819:TGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000006.12:160608819:TGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000006.12:160608819:TGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
                              Gene:
                              LPA (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              TGTGTGTGTGTGTGTG=0./0 (ALFA)
                              TGTG=0.2442/1223 (1000Genomes)
                              HGVS:
                              NC_000006.12:g.160608820TG[7], NC_000006.12:g.160608820TG[8], NC_000006.12:g.160608820TG[9], NC_000006.12:g.160608820TG[10], NC_000006.12:g.160608820TG[11], NC_000006.12:g.160608820TG[13], NC_000006.12:g.160608820TG[14], NC_000006.12:g.160608820TG[15], NC_000006.12:g.160608820TG[16], NC_000006.12:g.160608820TG[17], NC_000006.12:g.160608820TG[18], NC_000006.12:g.160608820TG[19], NC_000006.11:g.161029852TG[7], NC_000006.11:g.161029852TG[8], NC_000006.11:g.161029852TG[9], NC_000006.11:g.161029852TG[10], NC_000006.11:g.161029852TG[11], NC_000006.11:g.161029852TG[13], NC_000006.11:g.161029852TG[14], NC_000006.11:g.161029852TG[15], NC_000006.11:g.161029852TG[16], NC_000006.11:g.161029852TG[17], NC_000006.11:g.161029852TG[18], NC_000006.11:g.161029852TG[19], NG_016147.1:g.62533CA[7], NG_016147.1:g.62533CA[8], NG_016147.1:g.62533CA[9], NG_016147.1:g.62533CA[10], NG_016147.1:g.62533CA[11], NG_016147.1:g.62533CA[13], NG_016147.1:g.62533CA[14], NG_016147.1:g.62533CA[15], NG_016147.1:g.62533CA[16], NG_016147.1:g.62533CA[17], NG_016147.1:g.62533CA[18], NG_016147.1:g.62533CA[19]
                              15.

                              rs1491364980 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                TA>-,TATA [Show Flanks]
                                Chromosome:
                                6:160654026 (GRCh38)
                                6:161075058 (GRCh37)
                                Canonical SPDI:
                                NC_000006.12:160654020:ATATATA:ATATA,NC_000006.12:160654020:ATATATA:ATATATATA
                                Gene:
                                LPA (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                ATATATATA=0./0 (ALFA)
                                HGVS:
                                16.

                                rs1491362837 has merged into rs58821197 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  AAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAAAAAAAAAAAAAAAGATAACAAAAAAAAAAAAAAAAAA [Show Flanks]
                                  Chromosome:
                                  6:160652026 (GRCh38)
                                  6:161073058 (GRCh37)
                                  Canonical SPDI:
                                  NC_000006.12:160652016:AAAAAAAAAAAA:AAAAAAAAA,NC_000006.12:160652016:AAAAAAAAAAAA:AAAAAAAAAA,NC_000006.12:160652016:AAAAAAAAAAAA:AAAAAAAAAAA,NC_000006.12:160652016:AAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:160652016:AAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:160652016:AAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:160652016:AAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:160652016:AAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATAACAAAAAAAAAAAAAAAAAA
                                  Gene:
                                  LPA (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  AAAAAAAAAA=0./0 (ALFA)
                                  -=0.3924/1455 (TWINSUK)
                                  -=0.4009/1545 (ALSPAC)
                                  HGVS:
                                  NC_000006.12:g.160652026_160652028del, NC_000006.12:g.160652027_160652028del, NC_000006.12:g.160652028del, NC_000006.12:g.160652028dup, NC_000006.12:g.160652027_160652028dup, NC_000006.12:g.160652026_160652028dup, NC_000006.12:g.160652025_160652028dup, NC_000006.12:g.160652017_160652028A[31]GATAACAAAAAAAAAAAAAAAAAA[1], NC_000006.11:g.161073058_161073060del, NC_000006.11:g.161073059_161073060del, NC_000006.11:g.161073060del, NC_000006.11:g.161073060dup, NC_000006.11:g.161073059_161073060dup, NC_000006.11:g.161073058_161073060dup, NC_000006.11:g.161073057_161073060dup, NC_000006.11:g.161073049_161073060A[31]GATAACAAAAAAAAAAAAAAAAAA[1], NG_016147.1:g.19357_19359del, NG_016147.1:g.19358_19359del, NG_016147.1:g.19359del, NG_016147.1:g.19359dup, NG_016147.1:g.19358_19359dup, NG_016147.1:g.19357_19359dup, NG_016147.1:g.19356_19359dup, NG_016147.1:g.19348_19359T[18]GTTATCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1]
                                  17.

                                  rs1491299568 [Homo sapiens]
                                    Variant type:
                                    DEL
                                    Alleles:
                                    TT>- [Show Flanks]
                                    Chromosome:
                                    6:160654081 (GRCh38)
                                    6:161075113 (GRCh37)
                                    Canonical SPDI:
                                    NC_000006.12:160654080:TT:
                                    Gene:
                                    LPA (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    -=0./0 (ALFA)
                                    -=0.00034/13 (GnomAD)
                                    -=0.00128/1 (Korea1K)
                                    -=0.00204/34 (TOMMO)
                                    HGVS:
                                    18.

                                    rs1491285070 [Homo sapiens]
                                      Variant type:
                                      INS
                                      Alleles:
                                      ->G [Show Flanks]
                                      Chromosome:
                                      6:160652017 (GRCh38)
                                      6:161073050 (GRCh37)
                                      Canonical SPDI:
                                      NC_000006.12:160652017::G
                                      Gene:
                                      LPA (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.00007/2 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1491277199 [Homo sapiens]
                                        Variant type:
                                        DEL
                                        Alleles:
                                        AA>- [Show Flanks]
                                        Chromosome:
                                        6:160654020 (GRCh38)
                                        6:161075052 (GRCh37)
                                        Canonical SPDI:
                                        NC_000006.12:160654019:AA:
                                        Gene:
                                        LPA (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        -=0./0 (ALFA)
                                        -=0.00049/4 (GnomAD)
                                        -=0.00278/35 (TOMMO)
                                        HGVS:
                                        20.

                                        rs1491275676 [Homo sapiens]
                                          Variant type:
                                          DEL
                                          Alleles:
                                          CA>- [Show Flanks]
                                          Chromosome:
                                          6:160643082 (GRCh38)
                                          6:161064114 (GRCh37)
                                          Canonical SPDI:
                                          NC_000006.12:160643081:CA:
                                          Gene:
                                          LPA (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          -=0.000735/12 (ALFA)
                                          -=0.000112/15 (GnomAD)
                                          -=0.001667/1 (NorthernSweden)
                                          HGVS:

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