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.

rs1491572852 has merged into rs67593584 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTTT [Show Flanks]
    Chromosome:
    7:157478574 (GRCh38)
    7:157271268 (GRCh37)
    Canonical SPDI:
    NC_000007.14:157478566:TTTTTTTTTTTT:TTTTTTT,NC_000007.14:157478566:TTTTTTTTTTTT:TTTTTTTT,NC_000007.14:157478566:TTTTTTTTTTTT:TTTTTTTTT,NC_000007.14:157478566:TTTTTTTTTTTT:TTTTTTTTTT,NC_000007.14:157478566:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000007.14:157478566:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000007.14:157478566:TTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000007.14:157478566:TTTTTTTTTTTT:TTTTTTTTTTTTTTTT
    Gene:
    LOC101927914 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TTTTTTTTT=0./0 (ALFA)
    T=0.00074/20 (TOMMO)
    HGVS:
    2.

    rs1491558460 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      TT>-,TTT [Show Flanks]
      Chromosome:
      7:157478548 (GRCh38)
      7:157271242 (GRCh37)
      Canonical SPDI:
      NC_000007.14:157478546:TTT:T,NC_000007.14:157478546:TTT:TTTT
      Gene:
      LOC101927914 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0.00111/13 (ALFA)
      -=0.00083/14 (TOMMO)
      -=0.01169/979 (GnomAD)
      HGVS:
      3.

      rs1491539323 has merged into rs759804642 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        TGTGTGTGTGTG>-,TG,TGTG,TGTGTG,TGTGTGTG,TGTGTGTGTG,TGTGTGTGTGTGTG,TGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTG [Show Flanks]
        Chromosome:
        7:157500104 (GRCh38)
        7:157292798 (GRCh37)
        Canonical SPDI:
        NC_000007.14:157500087:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTG,NC_000007.14:157500087:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTG,NC_000007.14:157500087:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTG,NC_000007.14:157500087:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTG,NC_000007.14:157500087:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTG,NC_000007.14:157500087:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000007.14:157500087:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000007.14:157500087:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000007.14:157500087:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000007.14:157500087:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000007.14:157500087:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000007.14:157500087:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000007.14:157500087:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000007.14:157500087:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
        Gene:
        LOC101927914 (Varview), LOC105375610 (Varview)
        Functional Consequence:
        upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant,2KB_upstream_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        TGTGTGTGTGTGTGTGTG=0./0 (ALFA)
        -=0.12558/484 (ALSPAC)
        -=0.15/6 (GENOME_DK)
        HGVS:
        NC_000007.14:g.157500088TG[8], NC_000007.14:g.157500088TG[9], NC_000007.14:g.157500088TG[10], NC_000007.14:g.157500088TG[11], NC_000007.14:g.157500088TG[12], NC_000007.14:g.157500088TG[13], NC_000007.14:g.157500088TG[15], NC_000007.14:g.157500088TG[16], NC_000007.14:g.157500088TG[17], NC_000007.14:g.157500088TG[18], NC_000007.14:g.157500088TG[19], NC_000007.14:g.157500088TG[20], NC_000007.14:g.157500088TG[21], NC_000007.14:g.157500088TG[22], NC_000007.13:g.157292782TG[8], NC_000007.13:g.157292782TG[9], NC_000007.13:g.157292782TG[10], NC_000007.13:g.157292782TG[11], NC_000007.13:g.157292782TG[12], NC_000007.13:g.157292782TG[13], NC_000007.13:g.157292782TG[15], NC_000007.13:g.157292782TG[16], NC_000007.13:g.157292782TG[17], NC_000007.13:g.157292782TG[18], NC_000007.13:g.157292782TG[19], NC_000007.13:g.157292782TG[20], NC_000007.13:g.157292782TG[21], NC_000007.13:g.157292782TG[22]
        4.

        rs1491501567 [Homo sapiens]
          Variant type:
          INS
          Alleles:
          ->GCCCCGCGTGCGGGTGAGGGGT,GCCCCGCGTGCGGGTGAGGGGTCTCCCGGCCCCGCGTGCAGGCGAGGGGTTTTCCCGGCCCCGCGTGCAGGCGAGGGGT,GCCCGGTGTGCAGGTGAGGGGT,T,TT [Show Flanks]
          Chromosome:
          7:157483815 (GRCh38)
          7:157276510 (GRCh37)
          Canonical SPDI:
          NC_000007.14:157483815::GCCCCGCGTGCGGGTGAGGGGT,NC_000007.14:157483815::GCCCCGCGTGCGGGTGAGGGGTCTCCCGGCCCCGCGTGCAGGCGAGGGGTTTTCCCGGCCCCGCGTGCAGGCGAGGGGT,NC_000007.14:157483815::GCCCGGTGTGCAGGTGAGGGGT,NC_000007.14:157483815::T,NC_000007.14:157483815::TT
          Gene:
          LOC101927914 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          TT=0./0 (ALFA)
          T=0.00011/3 (TOMMO)
          HGVS:
          5.

          rs1491466929 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            CT>- [Show Flanks]
            Chromosome:
            7:157480476 (GRCh38)
            7:157273170 (GRCh37)
            Canonical SPDI:
            NC_000007.14:157480473:CTCT:CT
            Gene:
            LOC101927914 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            CTCT=0.00506/60 (ALFA)
            HGVS:
            6.

            rs1491432880 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              ->CTT,CTTTTTCTT,CTTTTTCTTTTCTTTCTT,CTTTTTCTTTTCTTTTCTT,CTTTTTCTTTTTCTTTTCTT,CTTTTTCTTTTTTGTT,CTTTTTCTTTTTTGTTTTGTT,CTTTTTCTTTTTTGTTTTTGTT,CTTTTTCTTTTTTTCTT,CTTTTTCTTTTTTTTCTT,CTTTTTCTTTTTTTTTCTT,CTTTTTCTTTTTTTTTTTCTT [Show Flanks]
              Chromosome:
              7:157479640 (GRCh38)
              7:157272335 (GRCh37)
              Canonical SPDI:
              NC_000007.14:157479640:TT:TTCTT,NC_000007.14:157479640:TT:TTCTTTTTCTT,NC_000007.14:157479640:TT:TTCTTTTTCTTTTCTTTCTT,NC_000007.14:157479640:TT:TTCTTTTTCTTTTCTTTTCTT,NC_000007.14:157479640:TT:TTCTTTTTCTTTTTCTTTTCTT,NC_000007.14:157479640:TT:TTCTTTTTCTTTTTTGTT,NC_000007.14:157479640:TT:TTCTTTTTCTTTTTTGTTTTGTT,NC_000007.14:157479640:TT:TTCTTTTTCTTTTTTGTTTTTGTT,NC_000007.14:157479640:TT:TTCTTTTTCTTTTTTTCTT,NC_000007.14:157479640:TT:TTCTTTTTCTTTTTTTTCTT,NC_000007.14:157479640:TT:TTCTTTTTCTTTTTTTTTCTT,NC_000007.14:157479640:TT:TTCTTTTTCTTTTTTTTTTTCTT
              Gene:
              LOC101927914 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              TTCTTTTTCTT=0./0 (ALFA)
              TTCTTTTTC=0.000004/1 (TOPMED)
              TTCTTTTTCTTTTCTTTTC=0.000555/1 (Korea1K)
              TTCTTTTTCTTTTTTGTTTTG=0.011087/71 (1000Genomes)
              HGVS:
              NC_000007.14:g.157479642_157479643insCTT, NC_000007.14:g.157479642_157479643insCTTTTTCTT, NC_000007.14:g.157479641_157479642TTCTTT[2]TCTT[2], NC_000007.14:g.157479641_157479642TTCTTT[2]TCTTTTCTT[1], NC_000007.14:g.157479641_157479642TTCTTT[3]TCTT[1], NC_000007.14:g.157479641_157479642TTCTTT[2]TTTGTT[1], NC_000007.14:g.157479641_157479642TTCTTT[2]TTTGT[2]T[1], NC_000007.14:g.157479641_157479642TTCTTT[2]TTTGTT[2], NC_000007.14:g.157479641_157479642TTCTTT[2]T[4]CTT[1], NC_000007.14:g.157479641_157479642TTCTTT[2]T[5]CTT[1], NC_000007.14:g.157479641_157479642TTCTTT[2]T[6]CTT[1], NC_000007.14:g.157479641_157479642TTCTTT[2]T[8]CTT[1], NC_000007.13:g.157272336_157272337insCTT, NC_000007.13:g.157272336_157272337insCTTTTTCTT, NC_000007.13:g.157272335_157272336TTCTTT[2]TCTT[2], NC_000007.13:g.157272335_157272336TTCTTT[2]TCTTTTCTT[1], NC_000007.13:g.157272335_157272336TTCTTT[3]TCTT[1], NC_000007.13:g.157272335_157272336TTCTTT[2]TTTGTT[1], NC_000007.13:g.157272335_157272336TTCTTT[2]TTTGT[2]T[1], NC_000007.13:g.157272335_157272336TTCTTT[2]TTTGTT[2], NC_000007.13:g.157272335_157272336TTCTTT[2]T[4]CTT[1], NC_000007.13:g.157272335_157272336TTCTTT[2]T[5]CTT[1], NC_000007.13:g.157272335_157272336TTCTTT[2]T[6]CTT[1], NC_000007.13:g.157272335_157272336TTCTTT[2]T[8]CTT[1]
              7.

              rs1491393550 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                CT>-,CTCT [Show Flanks]
                Chromosome:
                7:157478439 (GRCh38)
                7:157271133 (GRCh37)
                Canonical SPDI:
                NC_000007.14:157478437:TCT:T,NC_000007.14:157478437:TCT:TCTCT
                Gene:
                LOC101927914 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                TCTCT=0./0 (ALFA)
                HGVS:
                8.

                rs1491382217 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  ->TAGCAGTCTGTGGGT,TAGCATCTGTGGGT,TAGCATTCTGTGGGT [Show Flanks]
                  Chromosome:
                  7:157480474 (GRCh38)
                  7:157273169 (GRCh37)
                  Canonical SPDI:
                  NC_000007.14:157480474:TCTGTGGGT:TCTGTGGGTTAGCAGTCTGTGGGT,NC_000007.14:157480474:TCTGTGGGT:TCTGTGGGTTAGCATCTGTGGGT,NC_000007.14:157480474:TCTGTGGGT:TCTGTGGGTTAGCATTCTGTGGGT
                  Gene:
                  LOC101927914 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  TCTGTGGGTTAGCATTCTGTGGGT=0.06137/728 (ALFA)
                  -=0.41152/493 (Korea1K)
                  TCTGTGGGTTAGCAT=0.49756/6122 (TOMMO)
                  HGVS:
                  9.

                  rs1491380184 [Homo sapiens]
                    Variant type:
                    INS
                    Alleles:
                    ->TG [Show Flanks]
                    Chromosome:
                    7:157478382 (GRCh38)
                    7:157271077 (GRCh37)
                    Canonical SPDI:
                    NC_000007.14:157478382::TG
                    Gene:
                    LOC101927914 (Varview)
                    Functional Consequence:
                    intron_variant
                    HGVS:
                    10.

                    rs1491373468 [Homo sapiens]
                      Variant type:
                      DEL
                      Alleles:
                      GC>- [Show Flanks]
                      Chromosome:
                      7:157483815 (GRCh38)
                      7:157276509 (GRCh37)
                      Canonical SPDI:
                      NC_000007.14:157483814:GC:
                      Gene:
                      LOC101927914 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by cluster
                      MAF:
                      GC=0.18991/22033 (GnomAD)
                      GC=0.19287/3125 (TOMMO)
                      GC=0.240157/122 (NorthernSweden)
                      GC=0.252934/431 (Korea1K)
                      HGVS:
                      11.

                      rs1491357710 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        CT>- [Show Flanks]
                        Chromosome:
                        7:157480165 (GRCh38)
                        7:157272859 (GRCh37)
                        Canonical SPDI:
                        NC_000007.14:157480162:CTCT:CT
                        Gene:
                        LOC101927914 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        CTCT=0.00202/24 (ALFA)
                        HGVS:
                        12.

                        rs1491354906 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          ->CTCTCTTTCTTT,CTTT,CTTTCTTT,CTTTTCTTT,CTTTTCTTTTCTTT [Show Flanks]
                          Chromosome:
                          7:157478567 (GRCh38)
                          7:157271262 (GRCh37)
                          Canonical SPDI:
                          NC_000007.14:157478567:TTT:TTTCTCTCTTTCTTT,NC_000007.14:157478567:TTT:TTTCTTT,NC_000007.14:157478567:TTT:TTTCTTTCTTT,NC_000007.14:157478567:TTT:TTTCTTTTCTTT,NC_000007.14:157478567:TTT:TTTCTTTTCTTTTCTTT
                          Gene:
                          LOC101927914 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          TTTCTTT=0./0 (ALFA)
                          HGVS:
                          13.

                          rs1491351920 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            CT>- [Show Flanks]
                            Chromosome:
                            7:157478491 (GRCh38)
                            7:157271185 (GRCh37)
                            Canonical SPDI:
                            NC_000007.14:157478489:TCT:T
                            Gene:
                            LOC101927914 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            T=0.00008/1 (ALFA)
                            HGVS:
                            14.

                            rs1491348860 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              CT>- [Show Flanks]
                              Chromosome:
                              7:157478566 (GRCh38)
                              7:157271260 (GRCh37)
                              Canonical SPDI:
                              NC_000007.14:157478564:TCT:T
                              Gene:
                              LOC101927914 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              T=0./0 (ALFA)
                              HGVS:
                              15.

                              rs1491335338 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                CT>- [Show Flanks]
                                Chromosome:
                                7:157478383 (GRCh38)
                                7:157271077 (GRCh37)
                                Canonical SPDI:
                                NC_000007.14:157478381:TCT:T
                                Gene:
                                LOC101927914 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                -=0.0001/4 (GnomAD)
                                -=0.00042/7 (TOMMO)
                                HGVS:
                                16.

                                rs1491300899 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  ->C [Show Flanks]
                                  Chromosome:
                                  7:157478434 (GRCh38)
                                  7:157271129 (GRCh37)
                                  Canonical SPDI:
                                  NC_000007.14:157478434:C:CC
                                  Gene:
                                  LOC101927914 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by cluster
                                  MAF:
                                  C=0.001667/1 (NorthernSweden)
                                  C=0.001874/237 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1491298295 has merged into rs3071750 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTTTTTTTTTT [Show Flanks]
                                    Chromosome:
                                    7:157474449 (GRCh38)
                                    7:157267143 (GRCh37)
                                    Canonical SPDI:
                                    NC_000007.14:157474436:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000007.14:157474436:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000007.14:157474436:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000007.14:157474436:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000007.14:157474436:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000007.14:157474436:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000007.14:157474436:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000007.14:157474436:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                                    Gene:
                                    LOC101927914 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    TTTTTTTTTTTTT=0.0006/3 (ALFA)
                                    T=0.3161/1583 (1000Genomes)
                                    HGVS:
                                    18.

                                    rs1491277899 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      ->C [Show Flanks]
                                      Chromosome:
                                      7:157478438 (GRCh38)
                                      7:157271133 (GRCh37)
                                      Canonical SPDI:
                                      NC_000007.14:157478438:C:CC
                                      Gene:
                                      LOC101927914 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      CC=0./0 (ALFA)
                                      C=0.000004/1 (TOPMED)
                                      C=0.001115/19 (TOMMO)
                                      C=0.004383/525 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1491270813 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        ->TAGCATTCTGTGGGT [Show Flanks]
                                        Chromosome:
                                        7:157480163 (GRCh38)
                                        7:157272858 (GRCh37)
                                        Canonical SPDI:
                                        NC_000007.14:157480163:TCTGTGGGT:TCTGTGGGTTAGCATTCTGTGGGT
                                        Gene:
                                        LOC101927914 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by cluster
                                        MAF:
                                        TCTGTGGGTTAGCAT=0.00945/10 (Korea1K)
                                        TCTGTGGGTTAGCAT=0.01209/52 (TOMMO)
                                        TCTGTGGGTTAGCAT=0.01258/167 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1491268579 [Homo sapiens]
                                          Variant type:
                                          DEL
                                          Alleles:
                                          TC>- [Show Flanks]
                                          Chromosome:
                                          7:157482353 (GRCh38)
                                          7:157275047 (GRCh37)
                                          Canonical SPDI:
                                          NC_000007.14:157482352:TC:
                                          Gene:
                                          LOC101927914 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          -=0.00008/2 (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...