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 1546

1.

rs1491019011 has merged into rs59290111 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT [Show Flanks]
    Chromosome:
    15:90350692 (GRCh38)
    15:90893924 (GRCh37)
    Canonical SPDI:
    NC_000015.10:90350682:TTTTTTTTTTTT:TTTTTTTTT,NC_000015.10:90350682:TTTTTTTTTTTT:TTTTTTTTTT,NC_000015.10:90350682:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000015.10:90350682:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000015.10:90350682:TTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000015.10:90350682:TTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000015.10:90350682:TTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000015.10:90350682:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000015.10:90350682:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000015.10:90350682:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000015.10:90350682:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000015.10:90350682:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:90350682:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
    Gene:
    GABARAPL3 (Varview), ZNF774 (Varview)
    Functional Consequence:
    upstream_transcript_variant,2KB_upstream_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TTTTTTTTTT=0./0 (ALFA)
    -=0.00011/29 (TOPMED)
    T=0.245407/1229 (1000Genomes)
    HGVS:
    NC_000015.10:g.90350692_90350694del, NC_000015.10:g.90350693_90350694del, NC_000015.10:g.90350694del, NC_000015.10:g.90350694dup, NC_000015.10:g.90350693_90350694dup, NC_000015.10:g.90350692_90350694dup, NC_000015.10:g.90350691_90350694dup, NC_000015.10:g.90350690_90350694dup, NC_000015.10:g.90350689_90350694dup, NC_000015.10:g.90350687_90350694dup, NC_000015.10:g.90350686_90350694dup, NC_000015.10:g.90350694_90350695insTTTTTTTTTTTTT, NC_000015.10:g.90350694_90350695insTTTTTTTTTTTTTTT, NC_000015.9:g.90893924_90893926del, NC_000015.9:g.90893925_90893926del, NC_000015.9:g.90893926del, NC_000015.9:g.90893926dup, NC_000015.9:g.90893925_90893926dup, NC_000015.9:g.90893924_90893926dup, NC_000015.9:g.90893923_90893926dup, NC_000015.9:g.90893922_90893926dup, NC_000015.9:g.90893921_90893926dup, NC_000015.9:g.90893919_90893926dup, NC_000015.9:g.90893918_90893926dup, NC_000015.9:g.90893926_90893927insTTTTTTTTTTTTT, NC_000015.9:g.90893926_90893927insTTTTTTTTTTTTTTT
    2.

    rs1490793464 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      15:90346576 (GRCh38)
      15:90889808 (GRCh37)
      Canonical SPDI:
      NC_000015.10:90346575:C:T
      Gene:
      GABARAPL3 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      T=0./0 (ALFA)
      HGVS:
      3.

      rs1490627891 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        15:90346137 (GRCh38)
        15:90889369 (GRCh37)
        Canonical SPDI:
        NC_000015.10:90346136:T:C
        Gene:
        GABARAPL3 (Varview)
        Functional Consequence:
        downstream_transcript_variant,500B_downstream_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0./0 (ALFA)
        C=0.000023/6 (TOPMED)
        C=0.000029/4 (GnomAD)
        HGVS:
        4.

        rs1490273067 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>G [Show Flanks]
          Chromosome:
          15:90348825 (GRCh38)
          15:90892057 (GRCh37)
          Canonical SPDI:
          NC_000015.10:90348824:C:G
          Gene:
          GABARAPL3 (Varview)
          Functional Consequence:
          non_coding_transcript_variant
          Validated:
          by frequency
          MAF:
          G=0.000004/1 (GnomAD_exomes)
          HGVS:
          5.

          rs1489930228 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            15:90349907 (GRCh38)
            15:90893139 (GRCh37)
            Canonical SPDI:
            NC_000015.10:90349906:C:T
            Gene:
            GABARAPL3 (Varview)
            Functional Consequence:
            2KB_upstream_variant,upstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            T=0.000004/1 (TOPMED)
            T=0.000035/1 (TOMMO)
            HGVS:
            6.

            rs1489608343 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>A,T [Show Flanks]
              Chromosome:
              15:90350678 (GRCh38)
              15:90893910 (GRCh37)
              Canonical SPDI:
              NC_000015.10:90350677:C:A,NC_000015.10:90350677:C:T
              Gene:
              GABARAPL3 (Varview), ZNF774 (Varview)
              Functional Consequence:
              2KB_upstream_variant,upstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0.00032/5 (TOMMO)
              HGVS:
              7.

              rs1489414021 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>A,C [Show Flanks]
                Chromosome:
                15:90346909 (GRCh38)
                15:90890141 (GRCh37)
                Canonical SPDI:
                NC_000015.10:90346908:T:A,NC_000015.10:90346908:T:C
                Gene:
                GABARAPL3 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0./0 (ALFA)
                A=0.000014/2 (GnomAD)
                HGVS:
                8.

                rs1489302687 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  15:90347587 (GRCh38)
                  15:90890819 (GRCh37)
                  Canonical SPDI:
                  NC_000015.10:90347586:C:T
                  Gene:
                  GABARAPL3 (Varview)
                  Functional Consequence:
                  splice_donor_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000004/1 (TOPMED)
                  T=0.000007/1 (GnomAD)
                  HGVS:
                  9.

                  rs1488166079 [Homo sapiens]
                    Variant type:
                    DEL
                    Alleles:
                    T>- [Show Flanks]
                    Chromosome:
                    15:90346032 (GRCh38)
                    15:90889264 (GRCh37)
                    Canonical SPDI:
                    NC_000015.10:90346031:T:
                    Gene:
                    GABARAPL3 (Varview)
                    Functional Consequence:
                    downstream_transcript_variant,500B_downstream_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    -=0.000071/1 (ALFA)
                    -=0.000008/2 (TOPMED)
                    HGVS:
                    10.

                    rs1487805848 has merged into rs56917694 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      AAAAAAAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA [Show Flanks]
                      Chromosome:
                      15:90351402 (GRCh38)
                      15:90894634 (GRCh37)
                      Canonical SPDI:
                      NC_000015.10:90351389:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000015.10:90351389:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000015.10:90351389:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000015.10:90351389:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000015.10:90351389:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000015.10:90351389:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000015.10:90351389:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000015.10:90351389:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000015.10:90351389:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:90351389:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:90351389:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:90351389:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:90351389:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:90351389:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:90351389:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:90351389:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:90351389:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                      Gene:
                      GABARAPL3 (Varview), ZNF774 (Varview)
                      Functional Consequence:
                      upstream_transcript_variant,2KB_upstream_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      AAAAAAAAAAAAAA=0./0 (ALFA)
                      -=0.225/9 (GENOME_DK)
                      -=0.4884/2446 (1000Genomes)
                      HGVS:
                      NC_000015.10:g.90351402_90351410del, NC_000015.10:g.90351403_90351410del, NC_000015.10:g.90351404_90351410del, NC_000015.10:g.90351405_90351410del, NC_000015.10:g.90351407_90351410del, NC_000015.10:g.90351408_90351410del, NC_000015.10:g.90351409_90351410del, NC_000015.10:g.90351410del, NC_000015.10:g.90351410dup, NC_000015.10:g.90351409_90351410dup, NC_000015.10:g.90351408_90351410dup, NC_000015.10:g.90351407_90351410dup, NC_000015.10:g.90351406_90351410dup, NC_000015.10:g.90351405_90351410dup, NC_000015.10:g.90351404_90351410dup, NC_000015.10:g.90351403_90351410dup, NC_000015.10:g.90351402_90351410dup, NC_000015.9:g.90894634_90894642del, NC_000015.9:g.90894635_90894642del, NC_000015.9:g.90894636_90894642del, NC_000015.9:g.90894637_90894642del, NC_000015.9:g.90894639_90894642del, NC_000015.9:g.90894640_90894642del, NC_000015.9:g.90894641_90894642del, NC_000015.9:g.90894642del, NC_000015.9:g.90894642dup, NC_000015.9:g.90894641_90894642dup, NC_000015.9:g.90894640_90894642dup, NC_000015.9:g.90894639_90894642dup, NC_000015.9:g.90894638_90894642dup, NC_000015.9:g.90894637_90894642dup, NC_000015.9:g.90894636_90894642dup, NC_000015.9:g.90894635_90894642dup, NC_000015.9:g.90894634_90894642dup
                      11.

                      rs1487663956 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>T [Show Flanks]
                        Chromosome:
                        15:90347447 (GRCh38)
                        15:90890679 (GRCh37)
                        Canonical SPDI:
                        NC_000015.10:90347446:A:T
                        Gene:
                        GABARAPL3 (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:
                        12.

                        rs1487591138 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A,G [Show Flanks]
                          Chromosome:
                          15:90347102 (GRCh38)
                          15:90890334 (GRCh37)
                          Canonical SPDI:
                          NC_000015.10:90347101:C:A,NC_000015.10:90347101:C:G
                          Gene:
                          GABARAPL3 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          A=0.00559/25 (ALFA)
                          G=0.00004/1 (TOMMO)
                          HGVS:
                          13.

                          rs1487497794 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            15:90349198 (GRCh38)
                            15:90892430 (GRCh37)
                            Canonical SPDI:
                            NC_000015.10:90349197:G:A
                            Gene:
                            GABARAPL3 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000004/1 (TOPMED)
                            HGVS:
                            14.

                            rs1487035855 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              15:90349393 (GRCh38)
                              15:90892625 (GRCh37)
                              Canonical SPDI:
                              NC_000015.10:90349392:C:T
                              Gene:
                              GABARAPL3 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000007/1 (GnomAD)
                              T=0.000011/3 (TOPMED)
                              HGVS:
                              15.

                              rs1486026622 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                15:90348572 (GRCh38)
                                15:90891804 (GRCh37)
                                Canonical SPDI:
                                NC_000015.10:90348571:G:A
                                Gene:
                                GABARAPL3 (Varview)
                                Functional Consequence:
                                non_coding_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:
                                16.

                                rs1486025187 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>T [Show Flanks]
                                  Chromosome:
                                  15:90348657 (GRCh38)
                                  15:90891889 (GRCh37)
                                  Canonical SPDI:
                                  NC_000015.10:90348656:G:T
                                  Gene:
                                  GABARAPL3 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000014/2 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1485995022 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>A,T [Show Flanks]
                                    Chromosome:
                                    15:90346986 (GRCh38)
                                    15:90890218 (GRCh37)
                                    Canonical SPDI:
                                    NC_000015.10:90346985:C:A,NC_000015.10:90346985:C:T
                                    Gene:
                                    GABARAPL3 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.00053/9 (TOMMO)
                                    T=0.00548/16 (KOREAN)
                                    HGVS:
                                    18.

                                    rs1485418433 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>C [Show Flanks]
                                      Chromosome:
                                      15:90351401 (GRCh38)
                                      15:90894633 (GRCh37)
                                      Canonical SPDI:
                                      NC_000015.10:90351400:A:C
                                      Gene:
                                      GABARAPL3 (Varview), ZNF774 (Varview)
                                      Functional Consequence:
                                      2KB_upstream_variant,upstream_transcript_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      C=0.000007/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1485338765 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        15:90348344 (GRCh38)
                                        15:90891576 (GRCh37)
                                        Canonical SPDI:
                                        NC_000015.10:90348343:C:T
                                        Gene:
                                        GABARAPL3 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0.000142/2 (ALFA)
                                        T=0.000021/3 (GnomAD)
                                        T=0.000023/6 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1484491075 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A,C [Show Flanks]
                                          Chromosome:
                                          15:90346670 (GRCh38)
                                          15:90889902 (GRCh37)
                                          Canonical SPDI:
                                          NC_000015.10:90346669:G:A,NC_000015.10:90346669:G:C
                                          Gene:
                                          GABARAPL3 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0./0 (ALFA)
                                          A=0.000029/4 (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...