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Links from Gene

Items: 1 to 20 of 1000

1.

rs1491531082 [Homo sapiens]
    Variant type:
    SNV:
    Alleles:
    ->TTTTTTGTTTGTTTTTTTTTTTTTTTTTT
    Chromosome:
    no mapping
    Canonical SPDI:
    2.

    rs1491444138 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      CT>- [Show Flanks]
      Chromosome:
      12:53288833 (GRCh38)
      12:53682617 (GRCh37)
      Canonical SPDI:
      NC_000012.12:53288830:CTCT:CT
      Gene:
      ESPL1 (Varview)
      Functional Consequence:
      downstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      CTCT=0.000071/1 (ALFA)
      -=0.000053/14 (TOPMED)
      -=0.000312/2 (1000Genomes)
      -=0.00033/9 (GnomAD)
      HGVS:
      3.

      rs1491288742 has merged into rs33920201 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        AAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA [Show Flanks]
        Chromosome:
        12:53272097 (GRCh38)
        12:53665881 (GRCh37)
        Canonical SPDI:
        NC_000012.12:53272086:AAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000012.12:53272086:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000012.12:53272086:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000012.12:53272086:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000012.12:53272086:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:53272086:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000012.12:53272086:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000012.12:53272086:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000012.12:53272086:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA
        Gene:
        ESPL1 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        AAAAAAAAAAA=0./0 (ALFA)
        AA=0.1364/683 (1000Genomes)
        HGVS:
        4.

        rs1491175666 has merged into rs560945425 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          TTTTTTTTTTT>-,TTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT [Show Flanks]
          Chromosome:
          12:53275735 (GRCh38)
          12:53669519 (GRCh37)
          Canonical SPDI:
          NC_000012.12:53275726:TTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000012.12:53275726:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000012.12:53275726:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000012.12:53275726:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000012.12:53275726:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000012.12:53275726:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000012.12:53275726:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000012.12:53275726:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000012.12:53275726:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT
          Gene:
          ESPL1 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          TTTTTTTTTTTTTTT=0./0 (ALFA)
          -=0.16254/814 (1000Genomes)
          -=0.35/14 (GENOME_DK)
          HGVS:
          5.

          rs1491130951 [Homo sapiens]
            Variant type:
            DEL
            Alleles:
            GT>- [Show Flanks]
            Chromosome:
            12:53266755 (GRCh38)
            12:53660539 (GRCh37)
            Canonical SPDI:
            NC_000012.12:53266754:GT:
            Gene:
            ESPL1 (Varview)
            Functional Consequence:
            2KB_upstream_variant,upstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            -=0./0 (ALFA)
            GT=0.180593/2962 (TOMMO)
            GT=0.27164/477 (Korea1K)
            GT=0.388441/49938 (GnomAD)
            GT=0.444637/257 (NorthernSweden)
            HGVS:
            6.

            rs1491085651 has merged into rs1477923450 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              GA>-,GAGA [Show Flanks]
              Chromosome:
              12:53285028 (GRCh38)
              12:53678812 (GRCh37)
              Canonical SPDI:
              NC_000012.12:53285026:AGA:A,NC_000012.12:53285026:AGA:AGAGA
              Gene:
              ESPL1 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              AGAGA=0./0 (ALFA)
              AG=0.000004/1 (TOPMED)
              HGVS:
              7.

              rs1490954479 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                12:53281538 (GRCh38)
                12:53675322 (GRCh37)
                Canonical SPDI:
                NC_000012.12:53281537:A:G
                Gene:
                ESPL1 (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                G=0./0 (GnomAD)
                G=0.000004/1 (GnomAD_exomes)
                G=0.000004/1 (TOPMED)
                HGVS:
                8.

                rs1490918092 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>T [Show Flanks]
                  Chromosome:
                  12:53288500 (GRCh38)
                  12:53682284 (GRCh37)
                  Canonical SPDI:
                  NC_000012.12:53288499:G:T
                  Gene:
                  ESPL1 (Varview)
                  Functional Consequence:
                  downstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000008/2 (TOPMED)
                  HGVS:
                  9.

                  rs1490729722 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    12:53272966 (GRCh38)
                    12:53666750 (GRCh37)
                    Canonical SPDI:
                    NC_000012.12:53272965:C:T
                    Gene:
                    ESPL1 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0.000447/2 (ALFA)
                    T=0.000014/2 (GnomAD)
                    T=0.000446/2 (Estonian)
                    HGVS:
                    10.

                    rs1490725358 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>G,T [Show Flanks]
                      Chromosome:
                      12:53278732 (GRCh38)
                      12:53672516 (GRCh37)
                      Canonical SPDI:
                      NC_000012.12:53278731:C:G,NC_000012.12:53278731:C:T
                      Gene:
                      ESPL1 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000007/1 (GnomAD)
                      G=0.000177/3 (TOMMO)
                      HGVS:
                      11.

                      rs1490414165 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        12:53293891 (GRCh38)
                        12:53687675 (GRCh37)
                        Canonical SPDI:
                        NC_000012.12:53293890:A:G
                        Gene:
                        PFDN5 (Varview), ESPL1 (Varview)
                        Functional Consequence:
                        downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,upstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000014/2 (GnomAD)
                        G=0.000045/12 (TOPMED)
                        G=0.001092/2 (Korea1K)
                        G=0.002513/42 (TOMMO)
                        G=0.00308/9 (KOREAN)
                        HGVS:
                        12.

                        rs1490350096 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>G [Show Flanks]
                          Chromosome:
                          12:53271176 (GRCh38)
                          12:53664960 (GRCh37)
                          Canonical SPDI:
                          NC_000012.12:53271175:T:G
                          Gene:
                          ESPL1 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000007/1 (GnomAD)
                          HGVS:
                          13.

                          rs1490315824 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            12:53287164 (GRCh38)
                            12:53680948 (GRCh37)
                            Canonical SPDI:
                            NC_000012.12:53287163:T:C
                            Gene:
                            ESPL1 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            C=0.000084/1 (ALFA)
                            C=0.000029/4 (GnomAD)
                            HGVS:
                            14.

                            rs1490177387 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              12:53291022 (GRCh38)
                              12:53684806 (GRCh37)
                              Canonical SPDI:
                              NC_000012.12:53291021:G:A
                              Gene:
                              ESPL1 (Varview)
                              Functional Consequence:
                              intron_variant,genic_downstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000004/1 (TOPMED)
                              A=0.000014/2 (GnomAD)
                              HGVS:
                              15.
                              16.

                              rs1490066126 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                12:53292571 (GRCh38)
                                12:53686355 (GRCh37)
                                Canonical SPDI:
                                NC_000012.12:53292570:C:T
                                Gene:
                                ESPL1 (Varview)
                                Functional Consequence:
                                intron_variant,genic_downstream_transcript_variant
                                HGVS:
                                17.

                                rs1490022175 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>A [Show Flanks]
                                  Chromosome:
                                  12:53292040 (GRCh38)
                                  12:53685824 (GRCh37)
                                  Canonical SPDI:
                                  NC_000012.12:53292039:C:A
                                  Gene:
                                  ESPL1 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  A=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  18.

                                  rs1489771413 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    12:53276638 (GRCh38)
                                    12:53670422 (GRCh37)
                                    Canonical SPDI:
                                    NC_000012.12:53276637:C:T
                                    Gene:
                                    ESPL1 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,synonymous_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    T=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    19.

                                    rs1489763867 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>G [Show Flanks]
                                      Chromosome:
                                      12:53292023 (GRCh38)
                                      12:53685807 (GRCh37)
                                      Canonical SPDI:
                                      NC_000012.12:53292022:C:G
                                      Gene:
                                      ESPL1 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000007/1 (GnomAD)
                                      HGVS:
                                      20.

                                      rs1489686411 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        12:53277732 (GRCh38)
                                        12:53671516 (GRCh37)
                                        Canonical SPDI:
                                        NC_000012.12:53277731:C:T
                                        Gene:
                                        ESPL1 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000008/2 (TOPMED)
                                        HGVS:

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