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Items: 1 to 20 of 864

1.

rs1490488660 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>G [Show Flanks]
    Chromosome:
    1:152581162 (GRCh38)
    1:152553638 (GRCh37)
    Canonical SPDI:
    NC_000001.11:152581161:C:G
    Gene:
    LCE3D (Varview)
    Functional Consequence:
    upstream_transcript_variant,2KB_upstream_variant
    Validated:
    by frequency,by alfa
    MAF:
    G=0./0 (ALFA)
    G=0.000004/1 (TOPMED)
    HGVS:
    2.

    rs1490030632 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>A,C [Show Flanks]
      Chromosome:
      1:152579495 (GRCh38)
      1:152551971 (GRCh37)
      Canonical SPDI:
      NC_000001.11:152579494:T:A,NC_000001.11:152579494:T:C
      Gene:
      LCE3D (Varview)
      Functional Consequence:
      3_prime_UTR_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0./0 (ALFA)
      A=0.000021/3 (GnomAD)
      HGVS:
      3.

      rs1490000124 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        1:152580723 (GRCh38)
        1:152553199 (GRCh37)
        Canonical SPDI:
        NC_000001.11:152580722:T:C
        Gene:
        LCE3D (Varview)
        Functional Consequence:
        upstream_transcript_variant,2KB_upstream_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0./0 (ALFA)
        C=0.000004/1 (TOPMED)
        C=0.000007/1 (GnomAD)
        HGVS:
        4.

        rs1487734089 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>A [Show Flanks]
          Chromosome:
          1:152581529 (GRCh38)
          1:152554005 (GRCh37)
          Canonical SPDI:
          NC_000001.11:152581528:T:A
          Gene:
          LCE3D (Varview)
          Functional Consequence:
          upstream_transcript_variant,2KB_upstream_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.000007/1 (GnomAD)
          A=0.000011/3 (TOPMED)
          HGVS:
          5.

          rs1487081401 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            1:152580831 (GRCh38)
            1:152553307 (GRCh37)
            Canonical SPDI:
            NC_000001.11:152580830:T:C
            Gene:
            LCE3D (Varview)
            Functional Consequence:
            upstream_transcript_variant,2KB_upstream_variant
            Validated:
            by frequency,by alfa
            MAF:
            C=0./0 (ALFA)
            HGVS:
            6.

            rs1484847303 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              1:152579846 (GRCh38)
              1:152552322 (GRCh37)
              Canonical SPDI:
              NC_000001.11:152579845:G:A
              Gene:
              LCE3D (Varview)
              Functional Consequence:
              missense_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0./0 (ALFA)
              A=0.000004/1 (GnomAD_exomes)
              HGVS:
              7.

              rs1483780141 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                1:152581653 (GRCh38)
                1:152554129 (GRCh37)
                Canonical SPDI:
                NC_000001.11:152581652:A:G
                Gene:
                LCE3D (Varview)
                Functional Consequence:
                2KB_upstream_variant,upstream_transcript_variant
                Validated:
                by frequency
                MAF:
                G=0.000007/1 (GnomAD)
                HGVS:
                8.

                rs1483753284 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  1:152580002 (GRCh38)
                  1:152552478 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:152580001:A:G
                  Gene:
                  LCE3D (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0.000071/1 (ALFA)
                  G=0.000007/1 (GnomAD)
                  G=0.00003/8 (TOPMED)
                  HGVS:
                  9.

                  rs1483636532 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>A [Show Flanks]
                    Chromosome:
                    1:152582326 (GRCh38)
                    1:152554802 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:152582325:C:A
                    Gene:
                    LCE3D (Varview)
                    Functional Consequence:
                    2KB_upstream_variant,upstream_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000008/2 (TOPMED)
                    HGVS:
                    10.

                    rs1483007285 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      1:152581469 (GRCh38)
                      1:152553945 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:152581468:G:A
                      Gene:
                      LCE3D (Varview)
                      Functional Consequence:
                      2KB_upstream_variant,upstream_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000004/1 (TOPMED)
                      HGVS:
                      11.

                      rs1482957109 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C,G [Show Flanks]
                        Chromosome:
                        1:152582456 (GRCh38)
                        1:152554932 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:152582455:T:C,NC_000001.11:152582455:T:G
                        Gene:
                        LCE3D (Varview)
                        Functional Consequence:
                        2KB_upstream_variant,upstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000004/1 (TOPMED)
                        C=0.000007/1 (GnomAD)
                        G=0.000035/1 (TOMMO)
                        HGVS:
                        12.

                        rs1480541494 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          1:152580437 (GRCh38)
                          1:152552913 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:152580436:A:G
                          Gene:
                          LCE3D (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000007/1 (GnomAD)
                          G=0.000008/2 (TOPMED)
                          HGVS:
                          13.

                          rs1480378087 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            1:152580713 (GRCh38)
                            1:152553189 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:152580712:C:T
                            Gene:
                            LCE3D (Varview)
                            Functional Consequence:
                            2KB_upstream_variant,upstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000007/1 (GnomAD)
                            T=0.000011/3 (TOPMED)
                            T=0.000035/1 (TOMMO)
                            HGVS:
                            14.

                            rs1480029355 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              1:152580652 (GRCh38)
                              1:152553128 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:152580651:C:T
                              Gene:
                              LCE3D (Varview)
                              Functional Consequence:
                              2KB_upstream_variant,upstream_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000007/1 (GnomAD)
                              HGVS:
                              15.

                              rs1479796481 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                1:152580513 (GRCh38)
                                1:152552989 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:152580512:G:A
                                Gene:
                                LCE3D (Varview)
                                Functional Consequence:
                                5_prime_UTR_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000011/3 (TOPMED)
                                A=0.000021/3 (GnomAD)
                                HGVS:
                                16.

                                rs1479746691 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>C [Show Flanks]
                                  Chromosome:
                                  1:152580806 (GRCh38)
                                  1:152553282 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:152580805:G:C
                                  Gene:
                                  LCE3D (Varview)
                                  Functional Consequence:
                                  2KB_upstream_variant,upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000004/1 (TOPMED)
                                  C=0.000007/1 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1479004034 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    1:152579951 (GRCh38)
                                    1:152552427 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:152579950:A:G
                                    Gene:
                                    LCE3D (Varview)
                                    Functional Consequence:
                                    5_prime_UTR_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000004/1 (TOPMED)
                                    G=0.000007/1 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1478309259 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      1:152582106 (GRCh38)
                                      1:152554582 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:152582105:G:A
                                      Gene:
                                      LCE3D (Varview)
                                      Functional Consequence:
                                      2KB_upstream_variant,upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0.000071/1 (ALFA)
                                      A=0.000008/2 (TOPMED)
                                      A=0.000014/2 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1478097546 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        1:152580664 (GRCh38)
                                        1:152553140 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:152580663:A:G
                                        Gene:
                                        LCE3D (Varview)
                                        Functional Consequence:
                                        2KB_upstream_variant,upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000019/5 (TOPMED)
                                        G=0.000021/3 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1477649826 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          1:152581274 (GRCh38)
                                          1:152553750 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:152581273:T:C
                                          Gene:
                                          LCE3D (Varview)
                                          Functional Consequence:
                                          2KB_upstream_variant,upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000008/2 (TOPMED)
                                          HGVS:

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