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 3817

1.

rs1491455360 has merged into rs34073079 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    AAAAAAAAAAAA>-,AAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
    Chromosome:
    1:24313427 (GRCh38)
    1:24639917 (GRCh37)
    Canonical SPDI:
    NC_000001.11:24313415:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:24313415:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:24313415:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:24313415:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:24313415:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:24313415:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:24313415:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:24313415:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:24313415:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:24313415:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:24313415:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:24313415:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:24313415:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:24313415:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:24313415:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
    Gene:
    GRHL3-AS1 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    AAAAAAAAAAAAAA=0./0 (ALFA)
    HGVS:
    NC_000001.11:g.24313427_24313438del, NC_000001.11:g.24313430_24313438del, NC_000001.11:g.24313433_24313438del, NC_000001.11:g.24313435_24313438del, NC_000001.11:g.24313436_24313438del, NC_000001.11:g.24313437_24313438del, NC_000001.11:g.24313438del, NC_000001.11:g.24313438dup, NC_000001.11:g.24313437_24313438dup, NC_000001.11:g.24313436_24313438dup, NC_000001.11:g.24313434_24313438dup, NC_000001.11:g.24313433_24313438dup, NC_000001.11:g.24313416_24313438dup, NC_000001.11:g.24313438_24313439insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.24313438_24313439insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.24639917_24639928del, NC_000001.10:g.24639920_24639928del, NC_000001.10:g.24639923_24639928del, NC_000001.10:g.24639925_24639928del, NC_000001.10:g.24639926_24639928del, NC_000001.10:g.24639927_24639928del, NC_000001.10:g.24639928del, NC_000001.10:g.24639928dup, NC_000001.10:g.24639927_24639928dup, NC_000001.10:g.24639926_24639928dup, NC_000001.10:g.24639924_24639928dup, NC_000001.10:g.24639923_24639928dup, NC_000001.10:g.24639906_24639928dup, NC_000001.10:g.24639928_24639929insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.24639928_24639929insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
    2.

    rs1491342183 [Homo sapiens]
      Variant type:
      INS
      Alleles:
      ->A [Show Flanks]
      Chromosome:
      1:24314639 (GRCh38)
      1:24641130 (GRCh37)
      Canonical SPDI:
      NC_000001.11:24314639::A
      Gene:
      GRHL3-AS1 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by cluster
      MAF:
      A=0.0009/15 (TOMMO)
      A=0.0023/3 (Korea1K)
      A=0.06162/35 (NorthernSweden)
      A=0.10134/7118 (GnomAD)
      HGVS:
      3.

      rs1491335176 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        TT>- [Show Flanks]
        Chromosome:
        1:24314679 (GRCh38)
        1:24641169 (GRCh37)
        Canonical SPDI:
        NC_000001.11:24314677:TTT:T
        Gene:
        GRHL3-AS1 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0.00169/20 (ALFA)
        -=0.01292/7 (NorthernSweden)
        -=0.01593/264 (TOMMO)
        -=0.01976/1348 (GnomAD)
        HGVS:
        4.

        rs1491317907 [Homo sapiens]
          Variant type:
          DEL
          Alleles:
          CA>- [Show Flanks]
          Chromosome:
          1:24313415 (GRCh38)
          1:24639905 (GRCh37)
          Canonical SPDI:
          NC_000001.11:24313414:CA:
          Gene:
          GRHL3-AS1 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          -=0.00447/53 (ALFA)
          HGVS:
          5.

          rs1491297034 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            ->GT [Show Flanks]
            Chromosome:
            1:24316730 (GRCh38)
            1:24643221 (GRCh37)
            Canonical SPDI:
            NC_000001.11:24316730:T:TGT
            Gene:
            GRHL3-AS1 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            TGT=0./0 (ALFA)
            TG=0.000004/1 (TOPMED)
            HGVS:
            6.

            rs1491296339 [Homo sapiens]
              Variant type:
              INS
              Alleles:
              ->A,AGA,ATATATATAA [Show Flanks]
              Chromosome:
              1:24314678 (GRCh38)
              1:24641169 (GRCh37)
              Canonical SPDI:
              NC_000001.11:24314678::A,NC_000001.11:24314678::AGA,NC_000001.11:24314678::ATATATATAA
              Gene:
              GRHL3-AS1 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              ATATATATAA=0./0 (ALFA)
              A=0.27559/4523 (TOMMO)
              HGVS:
              7.

              rs1491290137 has merged into rs57853165 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                TT>-,T [Show Flanks]
                Chromosome:
                1:24314640 (GRCh38)
                1:24641130 (GRCh37)
                Canonical SPDI:
                NC_000001.11:24314638:TTT:T,NC_000001.11:24314638:TTT:TT
                Gene:
                GRHL3-AS1 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0.01026/104 (ALFA)
                -=0.1/4 (GENOME_DK)
                -=0.36707/26524 (GnomAD)
                -=0.38638/6262 (TOMMO)
                HGVS:
                8.

                rs1491248229 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  ->G [Show Flanks]
                  Chromosome:
                  1:24316728 (GRCh38)
                  1:24643219 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:24316728:G:GG
                  Gene:
                  GRHL3-AS1 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  GG=0./0 (ALFA)
                  G=0.00002/2 (GnomAD)
                  HGVS:
                  9.

                  rs1491239588 [Homo sapiens]
                    Variant type:
                    INS
                    Alleles:
                    ->A,ATA,ATATA,ATATATA,ATATATACATATATA,ATATATACATATATATA,ATATATATA,ATATATATATA,ATATATATATATA,ATATATATATATATA,ATATATATATATATATA,ATATATATATATATATATA,ATATATATATATATATATATA,ATATATATATATATATATATATA,ATATATATATATATATATATATATA,ATATATATATATATATATATATATATA,ATATATATATATATATATATATATATATA,ATATATATATATATATATATATATATATATATA,ATTTATTTATTTATATATTATTTATATATATATATATATATATATATATATATATATA [Show Flanks]
                    Chromosome:
                    1:24314640 (GRCh38)
                    1:24641131 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:24314640::A,NC_000001.11:24314640::ATA,NC_000001.11:24314640::ATATA,NC_000001.11:24314640::ATATATA,NC_000001.11:24314640::ATATATACATATATA,NC_000001.11:24314640::ATATATACATATATATA,NC_000001.11:24314640::ATATATATA,NC_000001.11:24314640::ATATATATATA,NC_000001.11:24314640::ATATATATATATA,NC_000001.11:24314640::ATATATATATATATA,NC_000001.11:24314640::ATATATATATATATATA,NC_000001.11:24314640::ATATATATATATATATATA,NC_000001.11:24314640::ATATATATATATATATATATA,NC_000001.11:24314640::ATATATATATATATATATATATA,NC_000001.11:24314640::ATATATATATATATATATATATATA,NC_000001.11:24314640::ATATATATATATATATATATATATATA,NC_000001.11:24314640::ATATATATATATATATATATATATATATA,NC_000001.11:24314640::ATATATATATATATATATATATATATATATATA,NC_000001.11:24314640::ATTTATTTATTTATATATTATTTATATATATATATATATATATATATATATATATATA
                    Gene:
                    GRHL3-AS1 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by cluster
                    HGVS:
                    NC_000001.11:g.24314640_24314641insA, NC_000001.11:g.24314640_24314641insATA, NC_000001.11:g.24314640_24314641insATATA, NC_000001.11:g.24314640_24314641insATATATA, NC_000001.11:g.24314640_24314641insATATATACATATATA, NC_000001.11:g.24314640_24314641insATATATACATATATATA, NC_000001.11:g.24314640_24314641insATATATATA, NC_000001.11:g.24314640_24314641insATATATATATA, NC_000001.11:g.24314640_24314641insATATATATATATA, NC_000001.11:g.24314640_24314641insATATATATATATATA, NC_000001.11:g.24314640_24314641insATATATATATATATATA, NC_000001.11:g.24314640_24314641insATATATATATATATATATA, NC_000001.11:g.24314640_24314641insATATATATATATATATATATA, NC_000001.11:g.24314640_24314641insATATATATATATATATATATATA, NC_000001.11:g.24314640_24314641insATATATATATATATATATATATATA, NC_000001.11:g.24314640_24314641insATATATATATATATATATATATATATA, NC_000001.11:g.24314640_24314641insATATATATATATATATATATATATATATA, NC_000001.11:g.24314640_24314641insATATATATATATATATATATATATATATATATA, NC_000001.11:g.24314640_24314641insATTTATTTATTTATATATTATTTATATATATATATATATATATATATATATATATATA, NC_000001.10:g.24641130_24641131insA, NC_000001.10:g.24641130_24641131insATA, NC_000001.10:g.24641130_24641131insATATA, NC_000001.10:g.24641130_24641131insATATATA, NC_000001.10:g.24641130_24641131insATATATACATATATA, NC_000001.10:g.24641130_24641131insATATATACATATATATA, NC_000001.10:g.24641130_24641131insATATATATA, NC_000001.10:g.24641130_24641131insATATATATATA, NC_000001.10:g.24641130_24641131insATATATATATATA, NC_000001.10:g.24641130_24641131insATATATATATATATA, NC_000001.10:g.24641130_24641131insATATATATATATATATA, NC_000001.10:g.24641130_24641131insATATATATATATATATATA, NC_000001.10:g.24641130_24641131insATATATATATATATATATATA, NC_000001.10:g.24641130_24641131insATATATATATATATATATATATA, NC_000001.10:g.24641130_24641131insATATATATATATATATATATATATA, NC_000001.10:g.24641130_24641131insATATATATATATATATATATATATATA, NC_000001.10:g.24641130_24641131insATATATATATATATATATATATATATATA, NC_000001.10:g.24641130_24641131insATATATATATATATATATATATATATATATATA, NC_000001.10:g.24641130_24641131insATTTATTTATTTATATATTATTTATATATATATATATATATATATATATATATATATA, NG_009308.2:g.250_251insA, NG_009308.2:g.250_251insATA, NG_009308.2:g.250_251insATATA, NG_009308.2:g.250_251insATATATA, NG_009308.2:g.250_251insATATATACATATATA, NG_009308.2:g.250_251insATATATACATATATATA, NG_009308.2:g.250_251insATATATATA, NG_009308.2:g.250_251insATATATATATA, NG_009308.2:g.250_251insATATATATATATA, NG_009308.2:g.250_251insATATATATATATATA, NG_009308.2:g.250_251insATATATATATATATATA, NG_009308.2:g.250_251insATATATATATATATATATA, NG_009308.2:g.250_251insATATATATATATATATATATA, NG_009308.2:g.250_251insATATATATATATATATATATATA, NG_009308.2:g.250_251insATATATATATATATATATATATATA, NG_009308.2:g.250_251insATATATATATATATATATATATATATA, NG_009308.2:g.250_251insATATATATATATATATATATATATATATA, NG_009308.2:g.250_251insATATATATATATATATATATATATATATATATA, NG_009308.2:g.250_251insATTTATTTATTTATATATTATTTATATATATATATATATATATATATATATATATATA
                    10.

                    rs1491057499 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      GT>- [Show Flanks]
                      Chromosome:
                      1:24305590 (GRCh38)
                      1:24632080 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:24305588:TGT:T
                      Gene:
                      GRHL3-AS1 (Varview)
                      Functional Consequence:
                      500B_downstream_variant,downstream_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      T=0./0 (ALFA)
                      -=0./0 (GnomAD)
                      HGVS:
                      11.

                      rs1490859889 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        1:24322987 (GRCh38)
                        1:24649477 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:24322986:G:A
                        Gene:
                        GRHL3 (Varview), GRHL3-AS1 (Varview)
                        Functional Consequence:
                        intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000004/1 (TOPMED)
                        A=0.000007/1 (GnomAD)
                        HGVS:
                        12.

                        rs1490629053 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>T [Show Flanks]
                          Chromosome:
                          1:24316322 (GRCh38)
                          1:24642812 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:24316321:G:T
                          Gene:
                          GRHL3-AS1 (Varview)
                          Functional Consequence:
                          intron_variant
                          HGVS:
                          13.

                          rs1490502882 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            1:24316018 (GRCh38)
                            1:24642508 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:24316017:T:C
                            Gene:
                            GRHL3-AS1 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000008/2 (TOPMED)
                            C=0.000014/2 (GnomAD)
                            HGVS:
                            14.

                            rs1490299208 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              1:24314207 (GRCh38)
                              1:24640697 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:24314206:G:A
                              Gene:
                              GRHL3-AS1 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0.000071/1 (ALFA)
                              A=0.000042/11 (TOPMED)
                              A=0.00005/7 (GnomAD)
                              A=0.000071/1 (TOMMO)
                              HGVS:
                              15.

                              rs1490049871 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                AA>-,AAA [Show Flanks]
                                Chromosome:
                                1:24308014 (GRCh38)
                                1:24634504 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:24308010:AAAAA:AAA,NC_000001.11:24308010:AAAAA:AAAAAA
                                Gene:
                                GRHL3-AS1 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                AAAAAA=0./0 (ALFA)
                                A=0.000011/3 (TOPMED)
                                HGVS:
                                16.

                                rs1490034149 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  1:24309309 (GRCh38)
                                  1:24635799 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:24309308:T:C
                                  Gene:
                                  GRHL3-AS1 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000008/2 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1489873583 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    1:24309841 (GRCh38)
                                    1:24636331 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:24309840:G:A
                                    Gene:
                                    GRHL3-AS1 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000004/1 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1489508426 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>G,T [Show Flanks]
                                      Chromosome:
                                      1:24321973 (GRCh38)
                                      1:24648463 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:24321972:C:G,NC_000001.11:24321972:C:T
                                      Gene:
                                      GRHL3 (Varview), GRHL3-AS1 (Varview)
                                      Functional Consequence:
                                      intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000007/1 (GnomAD)
                                      G=0.000015/4 (TOPMED)
                                      HGVS:
                                      20.

                                      rs1489241019 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        C>- [Show Flanks]
                                        Chromosome:
                                        1:24308861 (GRCh38)
                                        1:24635351 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:24308860:CC:C
                                        Gene:
                                        GRHL3-AS1 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        CC=0./0 (ALFA)
                                        -=0.000004/1 (TOPMED)
                                        -=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...