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Items: 1 to 20 of 3127

1.

rs1491435353 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    CA>- [Show Flanks]
    Chromosome:
    15:73928601 (GRCh38)
    15:74220942 (GRCh37)
    Canonical SPDI:
    NC_000015.10:73928600:CA:
    Gene:
    LOXL1 (Varview), LOXL1-AS1 (Varview)
    Functional Consequence:
    2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
    Validated:
    by frequency,by alfa
    MAF:
    -=0.00017/2 (ALFA)
    HGVS:
    2.

    rs1491226356 has merged into rs55696344 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      AAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
      Chromosome:
      15:73928613 (GRCh38)
      15:74220954 (GRCh37)
      Canonical SPDI:
      NC_000015.10:73928601:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000015.10:73928601:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000015.10:73928601:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000015.10:73928601:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000015.10:73928601:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000015.10:73928601:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000015.10:73928601:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000015.10:73928601:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000015.10:73928601:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000015.10:73928601:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000015.10:73928601:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000015.10:73928601:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:73928601:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:73928601:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:73928601:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:73928601:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:73928601:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:73928601:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:73928601:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:73928601:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:73928601:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:73928601:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
      Gene:
      LOXL1 (Varview), LOXL1-AS1 (Varview)
      Functional Consequence:
      genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant,2KB_upstream_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      AAAAAAAAAAA=0./0 (ALFA)
      AAAAAAAA=0.0302/151 (1000Genomes)
      HGVS:
      NC_000015.10:g.73928613_73928625del, NC_000015.10:g.73928614_73928625del, NC_000015.10:g.73928615_73928625del, NC_000015.10:g.73928616_73928625del, NC_000015.10:g.73928617_73928625del, NC_000015.10:g.73928618_73928625del, NC_000015.10:g.73928619_73928625del, NC_000015.10:g.73928620_73928625del, NC_000015.10:g.73928621_73928625del, NC_000015.10:g.73928622_73928625del, NC_000015.10:g.73928623_73928625del, NC_000015.10:g.73928624_73928625del, NC_000015.10:g.73928625del, NC_000015.10:g.73928625dup, NC_000015.10:g.73928624_73928625dup, NC_000015.10:g.73928622_73928625dup, NC_000015.10:g.73928620_73928625dup, NC_000015.10:g.73928616_73928625dup, NC_000015.10:g.73928615_73928625dup, NC_000015.10:g.73928614_73928625dup, NC_000015.10:g.73928613_73928625dup, NC_000015.10:g.73928608_73928625dup, NC_000015.9:g.74220954_74220966del, NC_000015.9:g.74220955_74220966del, NC_000015.9:g.74220956_74220966del, NC_000015.9:g.74220957_74220966del, NC_000015.9:g.74220958_74220966del, NC_000015.9:g.74220959_74220966del, NC_000015.9:g.74220960_74220966del, NC_000015.9:g.74220961_74220966del, NC_000015.9:g.74220962_74220966del, NC_000015.9:g.74220963_74220966del, NC_000015.9:g.74220964_74220966del, NC_000015.9:g.74220965_74220966del, NC_000015.9:g.74220966del, NC_000015.9:g.74220966dup, NC_000015.9:g.74220965_74220966dup, NC_000015.9:g.74220963_74220966dup, NC_000015.9:g.74220961_74220966dup, NC_000015.9:g.74220957_74220966dup, NC_000015.9:g.74220956_74220966dup, NC_000015.9:g.74220955_74220966dup, NC_000015.9:g.74220954_74220966dup, NC_000015.9:g.74220949_74220966dup, NG_011466.1:g.7166_7178del, NG_011466.1:g.7167_7178del, NG_011466.1:g.7168_7178del, NG_011466.1:g.7169_7178del, NG_011466.1:g.7170_7178del, NG_011466.1:g.7171_7178del, NG_011466.1:g.7172_7178del, NG_011466.1:g.7173_7178del, NG_011466.1:g.7174_7178del, NG_011466.1:g.7175_7178del, NG_011466.1:g.7176_7178del, NG_011466.1:g.7177_7178del, NG_011466.1:g.7178del, NG_011466.1:g.7178dup, NG_011466.1:g.7177_7178dup, NG_011466.1:g.7175_7178dup, NG_011466.1:g.7173_7178dup, NG_011466.1:g.7169_7178dup, NG_011466.1:g.7168_7178dup, NG_011466.1:g.7167_7178dup, NG_011466.1:g.7166_7178dup, NG_011466.1:g.7161_7178dup
      3.

      rs1490851579 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>G,T [Show Flanks]
        Chromosome:
        15:73923529 (GRCh38)
        15:74215870 (GRCh37)
        Canonical SPDI:
        NC_000015.10:73923528:C:G,NC_000015.10:73923528:C:T
        Gene:
        LOXL1-AS1 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0.000071/1 (ALFA)
        G=0.000008/2 (TOPMED)
        T=0.000142/2 (TOMMO)
        HGVS:
        4.

        rs1490805328 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          15:73924531 (GRCh38)
          15:74216872 (GRCh37)
          Canonical SPDI:
          NC_000015.10:73924530:C:T
          Gene:
          LOXL1 (Varview), LOXL1-AS1 (Varview)
          Functional Consequence:
          2KB_upstream_variant,upstream_transcript_variant,intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          T=0./0 (ALFA)
          T=0.000008/2 (TOPMED)
          HGVS:
          5.

          rs1490396190 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>C [Show Flanks]
            Chromosome:
            15:73930148 (GRCh38)
            15:74222489 (GRCh37)
            Canonical SPDI:
            NC_000015.10:73930147:A:C
            Gene:
            LOXL1 (Varview), LOXL1-AS1 (Varview)
            Functional Consequence:
            2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0./0 (ALFA)
            C=0.000008/2 (TOPMED)
            C=0.000014/2 (GnomAD)
            HGVS:
            6.

            rs1490315186 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              15:73924998 (GRCh38)
              15:74217339 (GRCh37)
              Canonical SPDI:
              NC_000015.10:73924997:A:G
              Gene:
              LOXL1 (Varview), LOXL1-AS1 (Varview)
              Functional Consequence:
              2KB_upstream_variant,upstream_transcript_variant,intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0./0 (ALFA)
              G=0.000008/2 (TOPMED)
              G=0.000014/2 (GnomAD)
              HGVS:
              7.

              rs1490038098 [Homo sapiens]
                Variant type:
                DEL
                Alleles:
                TTTGG>- [Show Flanks]
                Chromosome:
                15:73930055 (GRCh38)
                15:74222396 (GRCh37)
                Canonical SPDI:
                NC_000015.10:73930054:TTTGG:
                Gene:
                LOXL1 (Varview), LOXL1-AS1 (Varview)
                Functional Consequence:
                2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
                Validated:
                by frequency
                MAF:
                -=0.000021/3 (GnomAD)
                HGVS:
                8.

                rs1489874213 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>C,G [Show Flanks]
                  Chromosome:
                  15:73928871 (GRCh38)
                  15:74221212 (GRCh37)
                  Canonical SPDI:
                  NC_000015.10:73928870:A:C,NC_000015.10:73928870:A:G
                  Gene:
                  LOXL1 (Varview), LOXL1-AS1 (Varview)
                  Functional Consequence:
                  2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  C=0.000004/1 (TOPMED)
                  G=0.000035/1 (TOMMO)
                  G=0.000085/5 (GnomAD)
                  HGVS:
                  9.

                  rs1489574466 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    15:73922265 (GRCh38)
                    15:74214606 (GRCh37)
                    Canonical SPDI:
                    NC_000015.10:73922264:C:T
                    Gene:
                    LOXL1-AS1 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    T=0./0 (ALFA)
                    HGVS:
                    10.

                    rs1489167376 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      15:73917445 (GRCh38)
                      15:74209786 (GRCh37)
                      Canonical SPDI:
                      NC_000015.10:73917444:A:G
                      Gene:
                      LOXL1-AS1 (Varview)
                      Functional Consequence:
                      downstream_transcript_variant,500B_downstream_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000007/1 (GnomAD)
                      HGVS:
                      11.

                      rs1488592079 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        ->A [Show Flanks]
                        Chromosome:
                        15:73922710 (GRCh38)
                        15:74215052 (GRCh37)
                        Canonical SPDI:
                        NC_000015.10:73922710:A:AA
                        Gene:
                        LOXL1-AS1 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        AA=0./0 (ALFA)
                        A=0.000004/1 (TOPMED)
                        A=0.000007/1 (GnomAD)
                        HGVS:
                        12.

                        rs1488579824 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          15:73917199 (GRCh38)
                          15:74209540 (GRCh37)
                          Canonical SPDI:
                          NC_000015.10:73917198:G:A
                          Gene:
                          LOXL1-AS1 (Varview)
                          Functional Consequence:
                          downstream_transcript_variant,500B_downstream_variant
                          Validated:
                          by frequency
                          MAF:
                          A=0.000007/1 (GnomAD)
                          HGVS:
                          13.

                          rs1488552510 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>G [Show Flanks]
                            Chromosome:
                            15:73922947 (GRCh38)
                            15:74215288 (GRCh37)
                            Canonical SPDI:
                            NC_000015.10:73922946:C:G
                            Gene:
                            LOXL1-AS1 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000011/3 (TOPMED)
                            HGVS:
                            14.

                            rs1488303112 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              15:73926979 (GRCh38)
                              15:74219320 (GRCh37)
                              Canonical SPDI:
                              NC_000015.10:73926978:C:T
                              Gene:
                              LOXL1 (Varview), LOXL1-AS1 (Varview)
                              Functional Consequence:
                              missense_variant,intron_variant,genic_upstream_transcript_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000008/2 (TOPMED)
                              HGVS:
                              15.

                              rs1487829268 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                15:73917163 (GRCh38)
                                15:74209504 (GRCh37)
                                Canonical SPDI:
                                NC_000015.10:73917162:G:A
                                Gene:
                                LOXL1-AS1 (Varview)
                                Functional Consequence:
                                downstream_transcript_variant,500B_downstream_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0.000139/2 (ALFA)
                                A=0.000034/9 (TOPMED)
                                A=0.000093/13 (GnomAD)
                                HGVS:
                                16.

                                rs1487770084 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>T [Show Flanks]
                                  Chromosome:
                                  15:73926655 (GRCh38)
                                  15:74218996 (GRCh37)
                                  Canonical SPDI:
                                  NC_000015.10:73926654:G:T
                                  Gene:
                                  LOXL1 (Varview), LOXL1-AS1 (Varview)
                                  Functional Consequence:
                                  5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000004/1 (TOPMED)
                                  T=0.000014/2 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1487353347 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    15:73926975 (GRCh38)
                                    15:74219316 (GRCh37)
                                    Canonical SPDI:
                                    NC_000015.10:73926974:C:T
                                    Gene:
                                    LOXL1 (Varview), LOXL1-AS1 (Varview)
                                    Functional Consequence:
                                    intron_variant,genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant
                                    HGVS:
                                    18.

                                    rs1487111881 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>A,G [Show Flanks]
                                      Chromosome:
                                      15:73928627 (GRCh38)
                                      15:74220968 (GRCh37)
                                      Canonical SPDI:
                                      NC_000015.10:73928626:C:A,NC_000015.10:73928626:C:G
                                      Gene:
                                      LOXL1 (Varview), LOXL1-AS1 (Varview)
                                      Functional Consequence:
                                      2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000009/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1486951468 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>T [Show Flanks]
                                        Chromosome:
                                        15:73925121 (GRCh38)
                                        15:74217462 (GRCh37)
                                        Canonical SPDI:
                                        NC_000015.10:73925120:G:T
                                        Gene:
                                        LOXL1 (Varview), LOXL1-AS1 (Varview)
                                        Functional Consequence:
                                        2KB_upstream_variant,upstream_transcript_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000011/3 (TOPMED)
                                        T=0.000014/2 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1486807811 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          ATGAG>- [Show Flanks]
                                          Chromosome:
                                          15:73928559 (GRCh38)
                                          15:74220900 (GRCh37)
                                          Canonical SPDI:
                                          NC_000015.10:73928554:TGAGATGAG:TGAG
                                          Gene:
                                          LOXL1 (Varview), LOXL1-AS1 (Varview)
                                          Functional Consequence:
                                          2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          TGAG=0./0 (ALFA)
                                          -=0.000007/1 (GnomAD)
                                          -=0.000023/6 (TOPMED)
                                          HGVS:

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