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 5485

1.

rs1491570034 [Homo sapiens]
    Variant type:
    INS
    Alleles:
    ->GTGA,GTGC,GTGTAC,GTGTATAG,GTGTATATATATATATATATATATAC [Show Flanks]
    Chromosome:
    14:58404100 (GRCh38)
    14:58870819 (GRCh37)
    Canonical SPDI:
    NC_000014.9:58404100::GTGA,NC_000014.9:58404100::GTGC,NC_000014.9:58404100::GTGTAC,NC_000014.9:58404100::GTGTATAG,NC_000014.9:58404100::GTGTATATATATATATATATATATAC
    Gene:
    TOMM20L (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    GTGC=0./0 (ALFA)
    GTGTATATATATATATATATATATAC=0.00011/1 (TOMMO)
    HGVS:
    2.

    rs1491246989 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      ATATATAT>-,AT,ATAT,ATATAT,ATATATATAT,ATATATATATAT,ATATATATATATAT,ATATATATATATATAT,ATATATATATATATATAT,ATATATATATATATATATAT,ATATATATATATATATATATAT,ATATATATATATATATATATATATATATATAT [Show Flanks]
      Chromosome:
      14:58404113 (GRCh38)
      14:58870831 (GRCh37)
      Canonical SPDI:
      NC_000014.9:58404099:TATATATATATATATATATAT:TATATATATATAT,NC_000014.9:58404099:TATATATATATATATATATAT:TATATATATATATAT,NC_000014.9:58404099:TATATATATATATATATATAT:TATATATATATATATAT,NC_000014.9:58404099:TATATATATATATATATATAT:TATATATATATATATATAT,NC_000014.9:58404099:TATATATATATATATATATAT:TATATATATATATATATATATAT,NC_000014.9:58404099:TATATATATATATATATATAT:TATATATATATATATATATATATAT,NC_000014.9:58404099:TATATATATATATATATATAT:TATATATATATATATATATATATATAT,NC_000014.9:58404099:TATATATATATATATATATAT:TATATATATATATATATATATATATATAT,NC_000014.9:58404099:TATATATATATATATATATAT:TATATATATATATATATATATATATATATAT,NC_000014.9:58404099:TATATATATATATATATATAT:TATATATATATATATATATATATATATATATAT,NC_000014.9:58404099:TATATATATATATATATATAT:TATATATATATATATATATATATATATATATATAT,NC_000014.9:58404099:TATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATAT
      Gene:
      TOMM20L (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      TATATATATATATATATATATAT=0./0 (ALFA)
      HGVS:
      3.

      rs1491032814 has merged into rs10656955 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        AAAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAGAATAAAAAAAAAAAAGAAGTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
        Chromosome:
        14:58414020 (GRCh38)
        14:58880738 (GRCh37)
        Canonical SPDI:
        NC_000014.9:58414008:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000014.9:58414008:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000014.9:58414008:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000014.9:58414008:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000014.9:58414008:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000014.9:58414008:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000014.9:58414008:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000014.9:58414008:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000014.9:58414008:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000014.9:58414008:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000014.9:58414008:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000014.9:58414008:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:58414008:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:58414008:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:58414008:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:58414008:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:58414008:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:58414008:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:58414008:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:58414008:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:58414008:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:58414008:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:58414008:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:58414008:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:58414008:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:58414008:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:58414008:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:58414008:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:58414008:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:58414008:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAATAAAAAAAAAAAAGAAGTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
        Gene:
        TIMM9 (Varview), TOMM20L (Varview)
        Functional Consequence:
        intron_variant,genic_downstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        AAAAAAAAAAA=0./0 (ALFA)
        AAAAAAAAAAAA=0./0 (GENOME_DK)
        HGVS:
        NC_000014.9:g.58414020_58414036del, NC_000014.9:g.58414021_58414036del, NC_000014.9:g.58414022_58414036del, NC_000014.9:g.58414023_58414036del, NC_000014.9:g.58414024_58414036del, NC_000014.9:g.58414025_58414036del, NC_000014.9:g.58414026_58414036del, NC_000014.9:g.58414027_58414036del, NC_000014.9:g.58414028_58414036del, NC_000014.9:g.58414029_58414036del, NC_000014.9:g.58414030_58414036del, NC_000014.9:g.58414031_58414036del, NC_000014.9:g.58414032_58414036del, NC_000014.9:g.58414033_58414036del, NC_000014.9:g.58414034_58414036del, NC_000014.9:g.58414035_58414036del, NC_000014.9:g.58414036del, NC_000014.9:g.58414036dup, NC_000014.9:g.58414035_58414036dup, NC_000014.9:g.58414034_58414036dup, NC_000014.9:g.58414033_58414036dup, NC_000014.9:g.58414032_58414036dup, NC_000014.9:g.58414031_58414036dup, NC_000014.9:g.58414030_58414036dup, NC_000014.9:g.58414029_58414036dup, NC_000014.9:g.58414028_58414036dup, NC_000014.9:g.58414027_58414036dup, NC_000014.9:g.58414026_58414036dup, NC_000014.9:g.58414025_58414036dup, NC_000014.9:g.58414009_58414036A[32]GAATAAAAAAAAAAAAGAAGTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000014.8:g.58880738_58880754del, NC_000014.8:g.58880739_58880754del, NC_000014.8:g.58880740_58880754del, NC_000014.8:g.58880741_58880754del, NC_000014.8:g.58880742_58880754del, NC_000014.8:g.58880743_58880754del, NC_000014.8:g.58880744_58880754del, NC_000014.8:g.58880745_58880754del, NC_000014.8:g.58880746_58880754del, NC_000014.8:g.58880747_58880754del, NC_000014.8:g.58880748_58880754del, NC_000014.8:g.58880749_58880754del, NC_000014.8:g.58880750_58880754del, NC_000014.8:g.58880751_58880754del, NC_000014.8:g.58880752_58880754del, NC_000014.8:g.58880753_58880754del, NC_000014.8:g.58880754del, NC_000014.8:g.58880754dup, NC_000014.8:g.58880753_58880754dup, NC_000014.8:g.58880752_58880754dup, NC_000014.8:g.58880751_58880754dup, NC_000014.8:g.58880750_58880754dup, NC_000014.8:g.58880749_58880754dup, NC_000014.8:g.58880748_58880754dup, NC_000014.8:g.58880747_58880754dup, NC_000014.8:g.58880746_58880754dup, NC_000014.8:g.58880745_58880754dup, NC_000014.8:g.58880744_58880754dup, NC_000014.8:g.58880743_58880754dup, NC_000014.8:g.58880727_58880754A[32]GAATAAAAAAAAAAAAGAAGTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]
        4.

        rs1490846783 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          14:58412832 (GRCh38)
          14:58879550 (GRCh37)
          Canonical SPDI:
          NC_000014.9:58412831:T:C
          Gene:
          TIMM9 (Varview), TOMM20L (Varview)
          Functional Consequence:
          intron_variant,genic_downstream_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          C=0./0 (ALFA)
          C=0.000014/2 (GnomAD)
          HGVS:
          5.

          rs1490761887 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            14:58404319 (GRCh38)
            14:58871037 (GRCh37)
            Canonical SPDI:
            NC_000014.9:58404318:C:T
            Gene:
            TOMM20L (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            T=0./0 (ALFA)
            T=0.000008/1 (GnomAD)
            HGVS:
            6.

            rs1490567206 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A,T [Show Flanks]
              Chromosome:
              14:58404034 (GRCh38)
              14:58870752 (GRCh37)
              Canonical SPDI:
              NC_000014.9:58404033:G:A,NC_000014.9:58404033:G:T
              Gene:
              TOMM20L (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0.000004/1 (TOPMED)
              HGVS:
              7.

              rs1490500094 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>A [Show Flanks]
                Chromosome:
                14:58406318 (GRCh38)
                14:58873036 (GRCh37)
                Canonical SPDI:
                NC_000014.9:58406317:T:A
                Gene:
                TOMM20L (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                A=0./0 (ALFA)
                A=0.000007/1 (GnomAD)
                HGVS:
                8.

                rs1490446585 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>C [Show Flanks]
                  Chromosome:
                  14:58395869 (GRCh38)
                  14:58862587 (GRCh37)
                  Canonical SPDI:
                  NC_000014.9:58395868:A:C
                  Gene:
                  TOMM20L (Varview), TOMM20L-DT (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=0.000344/1 (KOREAN)
                  C=0.000549/1 (Korea1K)
                  HGVS:
                  9.

                  rs1490075498 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    14:58403645 (GRCh38)
                    14:58870363 (GRCh37)
                    Canonical SPDI:
                    NC_000014.9:58403644:T:C
                    Gene:
                    TOMM20L (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000014/2 (GnomAD)
                    HGVS:
                    10.

                    rs1489946535 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      14:58395429 (GRCh38)
                      14:58862147 (GRCh37)
                      Canonical SPDI:
                      NC_000014.9:58395428:G:A
                      Gene:
                      TOMM20L (Varview), TOMM20L-DT (Varview)
                      Functional Consequence:
                      upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000008/2 (TOPMED)
                      A=0.000014/2 (GnomAD)
                      HGVS:
                      11.

                      rs1489568243 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        14:58399369 (GRCh38)
                        14:58866087 (GRCh37)
                        Canonical SPDI:
                        NC_000014.9:58399368:C:T
                        Gene:
                        TOMM20L (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000007/1 (GnomAD)
                        T=0.000011/3 (TOPMED)
                        HGVS:
                        12.

                        rs1489558187 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          14:58406760 (GRCh38)
                          14:58873478 (GRCh37)
                          Canonical SPDI:
                          NC_000014.9:58406759:G:A
                          Gene:
                          TOMM20L (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0.000071/1 (ALFA)
                          A=0.000004/1 (TOPMED)
                          A=0.000035/1 (TOMMO)
                          HGVS:
                          13.

                          rs1489467051 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>A,C [Show Flanks]
                            Chromosome:
                            14:58404131 (GRCh38)
                            14:58870849 (GRCh37)
                            Canonical SPDI:
                            NC_000014.9:58404130:T:A,NC_000014.9:58404130:T:C
                            Gene:
                            TOMM20L (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0./0 (ALFA)
                            A=0.0002/2 (TOMMO)
                            A=0.00064/3 (GnomAD)
                            HGVS:
                            14.

                            rs1489446903 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              14:58405598 (GRCh38)
                              14:58872316 (GRCh37)
                              Canonical SPDI:
                              NC_000014.9:58405597:G:A
                              Gene:
                              TOMM20L (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000014/2 (GnomAD)
                              A=0.000026/7 (TOPMED)
                              A=0.000071/1 (TOMMO)
                              A=0.001027/3 (KOREAN)
                              A=0.001638/3 (Korea1K)
                              HGVS:
                              15.

                              rs1488784525 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                14:58410165 (GRCh38)
                                14:58876883 (GRCh37)
                                Canonical SPDI:
                                NC_000014.9:58410164:G:A
                                Gene:
                                TIMM9 (Varview), TOMM20L (Varview)
                                Functional Consequence:
                                intron_variant,genic_downstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000011/3 (TOPMED)
                                G=0.5/1 (SGDP_PRJ)
                                HGVS:
                                16.

                                rs1488651575 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  14:58399347 (GRCh38)
                                  14:58866065 (GRCh37)
                                  Canonical SPDI:
                                  NC_000014.9:58399346:C:T
                                  Gene:
                                  TOMM20L (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000004/1 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1488607104 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A,C [Show Flanks]
                                    Chromosome:
                                    14:58411423 (GRCh38)
                                    14:58878141 (GRCh37)
                                    Canonical SPDI:
                                    NC_000014.9:58411422:G:A,NC_000014.9:58411422:G:C
                                    Gene:
                                    TIMM9 (Varview), TOMM20L (Varview)
                                    Functional Consequence:
                                    intron_variant,genic_downstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000008/2 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1488078670 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>G [Show Flanks]
                                      Chromosome:
                                      14:58404297 (GRCh38)
                                      14:58871015 (GRCh37)
                                      Canonical SPDI:
                                      NC_000014.9:58404296:T:G
                                      Gene:
                                      TOMM20L (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000008/2 (TOPMED)
                                      G=0.000156/1 (1000Genomes)
                                      HGVS:
                                      19.

                                      rs1488034497 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        14:58399908 (GRCh38)
                                        14:58866626 (GRCh37)
                                        Canonical SPDI:
                                        NC_000014.9:58399907:A:G
                                        Gene:
                                        TOMM20L (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000008/1 (GnomAD)
                                        G=0.000011/3 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1488000567 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          14:58408514 (GRCh38)
                                          14:58875232 (GRCh37)
                                          Canonical SPDI:
                                          NC_000014.9:58408513:T:C
                                          Gene:
                                          TIMM9 (Varview), TOMM20L (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,intron_variant,3_prime_UTR_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          C=0.000004/1 (GnomAD_exomes)
                                          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...