U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from Gene

Items: 1 to 20 of 2994

1.

rs1491500640 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    CA>- [Show Flanks]
    Chromosome:
    12:113469698 (GRCh38)
    12:113907503 (GRCh37)
    Canonical SPDI:
    NC_000012.12:113469697:CA:
    Gene:
    LHX5 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    -=0./0 (ALFA)
    -=0.000004/1 (TOPMED)
    HGVS:
    2.

    rs1490867976 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      12:113470556 (GRCh38)
      12:113908361 (GRCh37)
      Canonical SPDI:
      NC_000012.12:113470555:G:A
      Gene:
      LHX5 (Varview), LHX5-AS1 (Varview)
      Functional Consequence:
      intron_variant,2KB_upstream_variant,upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0./0 (ALFA)
      A=0.000014/2 (GnomAD)
      A=0.000019/5 (TOPMED)
      HGVS:
      3.

      rs1490482229 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        12:113462572 (GRCh38)
        12:113900377 (GRCh37)
        Canonical SPDI:
        NC_000012.12:113462571:T:C
        Gene:
        LHX5 (Varview)
        Functional Consequence:
        3_prime_UTR_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0./0 (ALFA)
        C=0.000007/1 (GnomAD)
        C=0.000015/4 (TOPMED)
        C=0.000468/3 (1000Genomes)
        HGVS:
        4.

        rs1490139035 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          12:113464424 (GRCh38)
          12:113902229 (GRCh37)
          Canonical SPDI:
          NC_000012.12:113464423:G:A
          Gene:
          LHX5 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.000007/1 (GnomAD)
          A=0.000015/4 (TOPMED)
          HGVS:
          5.

          rs1490128589 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            12:113469110 (GRCh38)
            12:113906915 (GRCh37)
            Canonical SPDI:
            NC_000012.12:113469109:C:T
            Gene:
            LHX5 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            T=0./0 (ALFA)
            HGVS:
            6.

            rs1490124426 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              12:113463585 (GRCh38)
              12:113901390 (GRCh37)
              Canonical SPDI:
              NC_000012.12:113463584:G:A
              Gene:
              LHX5 (Varview)
              Functional Consequence:
              intron_variant
              HGVS:
              7.

              rs1489976546 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                ->G [Show Flanks]
                Chromosome:
                12:113464022 (GRCh38)
                12:113901828 (GRCh37)
                Canonical SPDI:
                NC_000012.12:113464022:G:GG
                Gene:
                LHX5 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                GG=0./0 (ALFA)
                G=0.000011/3 (TOPMED)
                HGVS:
                8.

                rs1489481205 [Homo sapiens]
                  Variant type:
                  DEL
                  Alleles:
                  A>- [Show Flanks]
                  Chromosome:
                  12:113471303 (GRCh38)
                  12:113909108 (GRCh37)
                  Canonical SPDI:
                  NC_000012.12:113471302:A:
                  Gene:
                  LHX5 (Varview), LHX5-AS1 (Varview)
                  Functional Consequence:
                  intron_variant,2KB_upstream_variant,upstream_transcript_variant
                  Validated:
                  by frequency
                  MAF:
                  -=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  9.

                  rs1489459757 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    12:113467748 (GRCh38)
                    12:113905553 (GRCh37)
                    Canonical SPDI:
                    NC_000012.12:113467747:C:T
                    Gene:
                    LHX5 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000007/1 (GnomAD)
                    HGVS:
                    10.

                    rs1488699678 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      12:113467264 (GRCh38)
                      12:113905069 (GRCh37)
                      Canonical SPDI:
                      NC_000012.12:113467263:T:C
                      Gene:
                      LHX5 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000004/1 (TOPMED)
                      C=0.000007/1 (GnomAD)
                      HGVS:
                      11.

                      rs1488623625 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        12:113469197 (GRCh38)
                        12:113907002 (GRCh37)
                        Canonical SPDI:
                        NC_000012.12:113469196:T:C
                        Gene:
                        LHX5 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant
                        Validated:
                        by frequency
                        MAF:
                        C=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        12.

                        rs1488334393 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A,T [Show Flanks]
                          Chromosome:
                          12:113472688 (GRCh38)
                          12:113910493 (GRCh37)
                          Canonical SPDI:
                          NC_000012.12:113472687:G:A,NC_000012.12:113472687:G:T
                          Gene:
                          LHX5 (Varview), LHX5-AS1 (Varview)
                          Functional Consequence:
                          intron_variant,2KB_upstream_variant,upstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000007/1 (GnomAD)
                          HGVS:
                          13.

                          rs1488133072 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            12:113465403 (GRCh38)
                            12:113903208 (GRCh37)
                            Canonical SPDI:
                            NC_000012.12:113465402:G:A
                            Gene:
                            LHX5 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000004/1 (TOPMED)
                            A=0.000007/1 (GnomAD)
                            HGVS:
                            14.

                            rs1487935655 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>T [Show Flanks]
                              Chromosome:
                              12:113466796 (GRCh38)
                              12:113904601 (GRCh37)
                              Canonical SPDI:
                              NC_000012.12:113466795:G:T
                              Gene:
                              LHX5 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000007/1 (GnomAD)
                              T=0.000008/2 (TOPMED)
                              HGVS:
                              15.

                              rs1487688455 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                12:113470142 (GRCh38)
                                12:113907947 (GRCh37)
                                Canonical SPDI:
                                NC_000012.12:113470141:T:C
                                Gene:
                                LHX5 (Varview), LHX5-AS1 (Varview)
                                Functional Consequence:
                                intron_variant,2KB_upstream_variant,upstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0.000071/1 (ALFA)
                                C=0.000007/1 (GnomAD)
                                C=0.000008/2 (TOPMED)
                                HGVS:
                                16.

                                rs1487184329 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  12:113468426 (GRCh38)
                                  12:113906231 (GRCh37)
                                  Canonical SPDI:
                                  NC_000012.12:113468425:A:G
                                  Gene:
                                  LHX5 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  G=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  17.

                                  rs1487112171 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>C [Show Flanks]
                                    Chromosome:
                                    12:113462393 (GRCh38)
                                    12:113900198 (GRCh37)
                                    Canonical SPDI:
                                    NC_000012.12:113462392:G:C
                                    Gene:
                                    LHX5 (Varview)
                                    Functional Consequence:
                                    3_prime_UTR_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    C=0.000071/1 (ALFA)
                                    C=0.000004/1 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1487098901 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      12:113465505 (GRCh38)
                                      12:113903310 (GRCh37)
                                      Canonical SPDI:
                                      NC_000012.12:113465504:C:T
                                      Gene:
                                      LHX5 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      T=0.000071/1 (ALFA)
                                      T=0.000008/2 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1487072423 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        12:113471146 (GRCh38)
                                        12:113908951 (GRCh37)
                                        Canonical SPDI:
                                        NC_000012.12:113471145:G:A
                                        Gene:
                                        LHX5 (Varview), LHX5-AS1 (Varview)
                                        Functional Consequence:
                                        intron_variant,2KB_upstream_variant,upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000008/2 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1486821393 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          12:113463664 (GRCh38)
                                          12:113901469 (GRCh37)
                                          Canonical SPDI:
                                          NC_000012.12:113463663:C:T
                                          Gene:
                                          LHX5 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000004/1 (TOPMED)
                                          T=0.000007/1 (GnomAD)
                                          HGVS:

                                          Display Settings:

                                          Format
                                          Items per page
                                          Sort by

                                          Send to:

                                          Choose Destination

                                          Supplemental Content

                                          Find related data

                                          Recent activity

                                          Your browsing activity is empty.

                                          Activity recording is turned off.

                                          Turn recording back on

                                          See more...