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 1000

1.

rs1491305204 [Homo sapiens]
    Variant type:
    INS
    Alleles:
    ->TTA [Show Flanks]
    Chromosome:
    1:70214916 (GRCh38)
    1:70680600 (GRCh37)
    Canonical SPDI:
    NC_000001.11:70214916::TTA
    Gene:
    SRSF11 (Varview)
    Functional Consequence:
    intron_variant,genic_upstream_transcript_variant
    HGVS:
    2.

    rs1491264062 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      GA>- [Show Flanks]
      Chromosome:
      1:70232410 (GRCh38)
      1:70698093 (GRCh37)
      Canonical SPDI:
      NC_000001.11:70232409:GA:
      Gene:
      SRSF11 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by cluster
      MAF:
      -=0.000005/1 (GnomAD_exomes)
      -=0.000008/1 (ExAC)
      HGVS:
      3.

      rs1491195771 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        TG>- [Show Flanks]
        Chromosome:
        1:70214916 (GRCh38)
        1:70680599 (GRCh37)
        Canonical SPDI:
        NC_000001.11:70214915:TG:
        Gene:
        SRSF11 (Varview)
        Functional Consequence:
        intron_variant,genic_upstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        -=0.00349/57 (ALFA)
        -=0.00308/52 (TOMMO)
        -=0.00497/9 (Korea1K)
        HGVS:
        4.

        rs1491064546 has merged into rs72113966 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          TTTTTTTT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
          Chromosome:
          1:70240785 (GRCh38)
          1:70706468 (GRCh37)
          Canonical SPDI:
          NC_000001.11:70240770:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:70240770:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:70240770:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:70240770:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:70240770:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:70240770:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:70240770:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:70240770:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:70240770:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:70240770:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:70240770:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:70240770:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:70240770:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:70240770:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:70240770:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:70240770:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
          Gene:
          SRSF11 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          TTTTTTTTTTTTTTT=0./0 (ALFA)
          HGVS:
          NC_000001.11:g.70240785_70240792del, NC_000001.11:g.70240786_70240792del, NC_000001.11:g.70240788_70240792del, NC_000001.11:g.70240789_70240792del, NC_000001.11:g.70240790_70240792del, NC_000001.11:g.70240791_70240792del, NC_000001.11:g.70240792del, NC_000001.11:g.70240792dup, NC_000001.11:g.70240791_70240792dup, NC_000001.11:g.70240790_70240792dup, NC_000001.11:g.70240789_70240792dup, NC_000001.11:g.70240788_70240792dup, NC_000001.11:g.70240787_70240792dup, NC_000001.11:g.70240786_70240792dup, NC_000001.11:g.70240785_70240792dup, NC_000001.11:g.70240792_70240793insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.70706468_70706475del, NC_000001.10:g.70706469_70706475del, NC_000001.10:g.70706471_70706475del, NC_000001.10:g.70706472_70706475del, NC_000001.10:g.70706473_70706475del, NC_000001.10:g.70706474_70706475del, NC_000001.10:g.70706475del, NC_000001.10:g.70706475dup, NC_000001.10:g.70706474_70706475dup, NC_000001.10:g.70706473_70706475dup, NC_000001.10:g.70706472_70706475dup, NC_000001.10:g.70706471_70706475dup, NC_000001.10:g.70706470_70706475dup, NC_000001.10:g.70706469_70706475dup, NC_000001.10:g.70706468_70706475dup, NC_000001.10:g.70706475_70706476insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
          5.

          rs1491049794 [Homo sapiens]
            Variant type:
            DEL
            Alleles:
            TT>- [Show Flanks]
            Chromosome:
            1:70204731 (GRCh38)
            1:70670414 (GRCh37)
            Canonical SPDI:
            NC_000001.11:70204730:TT:
            Gene:
            SRSF11 (Varview), LRRC40 (Varview)
            Functional Consequence:
            genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
            Validated:
            by frequency,by alfa
            MAF:
            -=0./0 (ALFA)
            HGVS:
            6.

            rs1491026052 has merged into rs369129508 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAAA [Show Flanks]
              Chromosome:
              1:70242177 (GRCh38)
              1:70707860 (GRCh37)
              Canonical SPDI:
              NC_000001.11:70242165:AAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:70242165:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:70242165:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:70242165:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:70242165:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:70242165:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:70242165:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:70242165:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:70242165:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:70242165:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA
              Gene:
              SRSF11 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              AAAAAAAAAAAA=0./0 (ALFA)
              A=0.2366/1185 (1000Genomes)
              A=0.375/3 (KOREAN)
              HGVS:
              7.

              rs1490875930 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>G [Show Flanks]
                Chromosome:
                1:70230323 (GRCh38)
                1:70696006 (GRCh37)
                Canonical SPDI:
                NC_000001.11:70230322:T:G
                Gene:
                SRSF11 (Varview)
                Functional Consequence:
                intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                G=0.000071/1 (ALFA)
                G=0.000007/1 (GnomAD)
                HGVS:
                8.

                rs1490810007 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  1:70224270 (GRCh38)
                  1:70689953 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:70224269:A:G
                  Gene:
                  SRSF11 (Varview)
                  Functional Consequence:
                  intron_variant,genic_upstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0.000071/1 (ALFA)
                  G=0.000007/1 (GnomAD)
                  G=0.000008/2 (TOPMED)
                  HGVS:
                  9.

                  rs1490649942 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>G [Show Flanks]
                    Chromosome:
                    1:70239781 (GRCh38)
                    1:70705464 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:70239780:T:G
                    Gene:
                    SRSF11 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    G=0.000071/1 (ALFA)
                    G=0.000004/1 (TOPMED)
                    HGVS:
                    10.

                    rs1490634307 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>T [Show Flanks]
                      Chromosome:
                      1:70240732 (GRCh38)
                      1:70706415 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:70240731:A:T
                      Gene:
                      SRSF11 (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:
                      11.

                      rs1490576187 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        1:70223789 (GRCh38)
                        1:70689472 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:70223788:G:A
                        Gene:
                        SRSF11 (Varview)
                        Functional Consequence:
                        intron_variant,genic_upstream_transcript_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        A=0./0 (ALFA)
                        HGVS:
                        12.

                        rs1490511736 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          1:70247509 (GRCh38)
                          1:70713192 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:70247508:A:G
                          Gene:
                          SRSF11 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000004/1 (TOPMED)
                          G=0.000071/1 (TOMMO)
                          HGVS:
                          13.

                          rs1490391424 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            1:70233173 (GRCh38)
                            1:70698856 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:70233172:G:A
                            Gene:
                            SRSF11 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000008/2 (TOPMED)
                            HGVS:
                            14.

                            rs1490228794 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              1:70233491 (GRCh38)
                              1:70699174 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:70233490:T:C
                              Gene:
                              SRSF11 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              C=0./0 (ALFA)
                              HGVS:
                              15.

                              rs1490228269 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                ->A [Show Flanks]
                                Chromosome:
                                1:70247026 (GRCh38)
                                1:70712710 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:70247026:A:AA
                                Gene:
                                SRSF11 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                AA=0.000071/1 (ALFA)
                                A=0.000068/18 (TOPMED)
                                A=0.000078/11 (GnomAD)
                                HGVS:
                                16.

                                rs1490183301 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>G [Show Flanks]
                                  Chromosome:
                                  1:70210162 (GRCh38)
                                  1:70675845 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:70210161:C:G
                                  Gene:
                                  SRSF11 (Varview)
                                  Functional Consequence:
                                  intron_variant,genic_upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000004/1 (TOPMED)
                                  G=0.000014/2 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1490121158 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    1:70244539 (GRCh38)
                                    1:70710222 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:70244538:G:A
                                    Gene:
                                    SRSF11 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    A=0./0 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1490114784 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      1:70217768 (GRCh38)
                                      1:70683451 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:70217767:T:C
                                      Gene:
                                      SRSF11 (Varview)
                                      Functional Consequence:
                                      intron_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000004/1 (TOPMED)
                                      C=0.000007/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1489958089 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A,T [Show Flanks]
                                        Chromosome:
                                        1:70245673 (GRCh38)
                                        1:70711356 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:70245672:G:A,NC_000001.11:70245672:G:T
                                        Gene:
                                        SRSF11 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000007/1 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1489845623 has merged into rs966796673 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          A>-,AA,AAA [Show Flanks]
                                          Chromosome:
                                          1:70226192 (GRCh38)
                                          1:70691875 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:70226191:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:70226191:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:70226191:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA
                                          Gene:
                                          SRSF11 (Varview)
                                          Functional Consequence:
                                          intron_variant,genic_upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          AAAAAAAAAAAAAA=0.00005/1 (ALFA)
                                          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...