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Items: 1 to 20 of 9099

1.

rs1491409259 [Homo sapiens]
    Variant type:
    INS
    Alleles:
    ->A,ATA,ATATA,ATATATA,ATATATATA,ATATATATATA,ATATATATATATA,ATATATATATATATA,ATATATATATATATATA,ATATATATATATATATATA,ATATATATATATATATATATA,ATATATATATATATATATATATA,ATATATATATATATATATATATATA,ATATATATATATATATATATATATATATA,ATATATATATATATATATATATATATATATA [Show Flanks]
    Chromosome:
    3:157118660 (GRCh38)
    3:156836450 (GRCh37)
    Canonical SPDI:
    NC_000003.12:157118660::A,NC_000003.12:157118660::ATA,NC_000003.12:157118660::ATATA,NC_000003.12:157118660::ATATATA,NC_000003.12:157118660::ATATATATA,NC_000003.12:157118660::ATATATATATA,NC_000003.12:157118660::ATATATATATATA,NC_000003.12:157118660::ATATATATATATATA,NC_000003.12:157118660::ATATATATATATATATA,NC_000003.12:157118660::ATATATATATATATATATA,NC_000003.12:157118660::ATATATATATATATATATATA,NC_000003.12:157118660::ATATATATATATATATATATATA,NC_000003.12:157118660::ATATATATATATATATATATATATA,NC_000003.12:157118660::ATATATATATATATATATATATATATATA,NC_000003.12:157118660::ATATATATATATATATATATATATATATATA
    Gene:
    LINC00880 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    ATA=0./0 (ALFA)
    HGVS:
    NC_000003.12:g.157118660_157118661insA, NC_000003.12:g.157118660_157118661insATA, NC_000003.12:g.157118660_157118661insATATA, NC_000003.12:g.157118660_157118661insATATATA, NC_000003.12:g.157118660_157118661insATATATATA, NC_000003.12:g.157118660_157118661insATATATATATA, NC_000003.12:g.157118660_157118661insATATATATATATA, NC_000003.12:g.157118660_157118661insATATATATATATATA, NC_000003.12:g.157118660_157118661insATATATATATATATATA, NC_000003.12:g.157118660_157118661insATATATATATATATATATA, NC_000003.12:g.157118660_157118661insATATATATATATATATATATA, NC_000003.12:g.157118660_157118661insATATATATATATATATATATATA, NC_000003.12:g.157118660_157118661insATATATATATATATATATATATATA, NC_000003.12:g.157118660_157118661insATATATATATATATATATATATATATATA, NC_000003.12:g.157118660_157118661insATATATATATATATATATATATATATATATA, NC_000003.11:g.156836449_156836450insA, NC_000003.11:g.156836449_156836450insATA, NC_000003.11:g.156836449_156836450insATATA, NC_000003.11:g.156836449_156836450insATATATA, NC_000003.11:g.156836449_156836450insATATATATA, NC_000003.11:g.156836449_156836450insATATATATATA, NC_000003.11:g.156836449_156836450insATATATATATATA, NC_000003.11:g.156836449_156836450insATATATATATATATA, NC_000003.11:g.156836449_156836450insATATATATATATATATA, NC_000003.11:g.156836449_156836450insATATATATATATATATATA, NC_000003.11:g.156836449_156836450insATATATATATATATATATATA, NC_000003.11:g.156836449_156836450insATATATATATATATATATATATA, NC_000003.11:g.156836449_156836450insATATATATATATATATATATATATA, NC_000003.11:g.156836449_156836450insATATATATATATATATATATATATATATA, NC_000003.11:g.156836449_156836450insATATATATATATATATATATATATATATATA
    2.

    rs1491408653 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      CA>- [Show Flanks]
      Chromosome:
      3:157085092 (GRCh38)
      3:156802881 (GRCh37)
      Canonical SPDI:
      NC_000003.12:157085091:CA:
      Gene:
      LINC00880 (Varview), LINC02029 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      -=0./0 (ALFA)
      -=0.000051/6 (GnomAD)
      HGVS:
      3.

      rs1491407135 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        ->A [Show Flanks]
        Chromosome:
        3:157095883 (GRCh38)
        3:156813673 (GRCh37)
        Canonical SPDI:
        NC_000003.12:157095883:A:AA
        Gene:
        LINC00880 (Varview), LINC00881 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        AA=0./0 (ALFA)
        HGVS:
        4.

        rs1491200587 has merged into rs869062873 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          TTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT [Show Flanks]
          Chromosome:
          3:157118664 (GRCh38)
          3:156836453 (GRCh37)
          Canonical SPDI:
          NC_000003.12:157118659:TTTTTTTTTTTTT:TTTT,NC_000003.12:157118659:TTTTTTTTTTTTT:TTTTT,NC_000003.12:157118659:TTTTTTTTTTTTT:TTTTTT,NC_000003.12:157118659:TTTTTTTTTTTTT:TTTTTTT,NC_000003.12:157118659:TTTTTTTTTTTTT:TTTTTTTT,NC_000003.12:157118659:TTTTTTTTTTTTT:TTTTTTTTT,NC_000003.12:157118659:TTTTTTTTTTTTT:TTTTTTTTTT,NC_000003.12:157118659:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000003.12:157118659:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000003.12:157118659:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:157118659:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:157118659:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:157118659:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:157118659:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT
          Gene:
          LINC00880 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          TTTT=0./0 (ALFA)
          -=0.000004/1 (TOPMED)
          -=0.037415/22 (NorthernSweden)
          HGVS:
          NC_000003.12:g.157118664_157118672del, NC_000003.12:g.157118665_157118672del, NC_000003.12:g.157118666_157118672del, NC_000003.12:g.157118667_157118672del, NC_000003.12:g.157118668_157118672del, NC_000003.12:g.157118669_157118672del, NC_000003.12:g.157118670_157118672del, NC_000003.12:g.157118671_157118672del, NC_000003.12:g.157118672del, NC_000003.12:g.157118672dup, NC_000003.12:g.157118671_157118672dup, NC_000003.12:g.157118670_157118672dup, NC_000003.12:g.157118669_157118672dup, NC_000003.12:g.157118668_157118672dup, NC_000003.11:g.156836453_156836461del, NC_000003.11:g.156836454_156836461del, NC_000003.11:g.156836455_156836461del, NC_000003.11:g.156836456_156836461del, NC_000003.11:g.156836457_156836461del, NC_000003.11:g.156836458_156836461del, NC_000003.11:g.156836459_156836461del, NC_000003.11:g.156836460_156836461del, NC_000003.11:g.156836461del, NC_000003.11:g.156836461dup, NC_000003.11:g.156836460_156836461dup, NC_000003.11:g.156836459_156836461dup, NC_000003.11:g.156836458_156836461dup, NC_000003.11:g.156836457_156836461dup
          5.

          rs1491074982 has merged into rs141674306 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            GTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT [Show Flanks]
            Chromosome:
            3:157087713 (GRCh38)
            3:156805502 (GRCh37)
            Canonical SPDI:
            NC_000003.12:157087700:GTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGT,NC_000003.12:157087700:GTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGT,NC_000003.12:157087700:GTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGT,NC_000003.12:157087700:GTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGT,NC_000003.12:157087700:GTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:157087700:GTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:157087700:GTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:157087700:GTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:157087700:GTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:157087700:GTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
            Gene:
            LINC00880 (Varview), LINC02029 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            GTGTGTGTGTGTGT=0./0 (ALFA)
            -=0.000023/6 (TOPMED)
            GT=0.025/1 (GENOME_DK)
            GT=0.085/51 (NorthernSweden)
            -=0.254098/31 (1000Genomes)
            HGVS:
            6.

            rs1490940078 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              3:157115502 (GRCh38)
              3:156833291 (GRCh37)
              Canonical SPDI:
              NC_000003.12:157115501:T:C
              Gene:
              LINC00880 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              C=0./0 (ALFA)
              C=0.000008/2 (TOPMED)
              HGVS:
              7.

              rs1490823478 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                3:157107750 (GRCh38)
                3:156825539 (GRCh37)
                Canonical SPDI:
                NC_000003.12:157107749:A:G
                Gene:
                LINC00880 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                G=0.000004/1 (TOPMED)
                G=0.000007/1 (GnomAD)
                HGVS:
                8.

                rs1490739255 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  3:157090511 (GRCh38)
                  3:156808300 (GRCh37)
                  Canonical SPDI:
                  NC_000003.12:157090510:G:A
                  Gene:
                  LINC00880 (Varview), LINC00881 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000007/1 (GnomAD)
                  A=0.000008/2 (TOPMED)
                  HGVS:
                  9.

                  rs1490713807 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>T [Show Flanks]
                    Chromosome:
                    3:157091640 (GRCh38)
                    3:156809429 (GRCh37)
                    Canonical SPDI:
                    NC_000003.12:157091639:G:T
                    Gene:
                    LINC00880 (Varview), LINC00881 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000004/1 (TOPMED)
                    HGVS:
                    10.

                    rs1490597633 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      3:157097292 (GRCh38)
                      3:156815081 (GRCh37)
                      Canonical SPDI:
                      NC_000003.12:157097291:G:A
                      Gene:
                      LINC00880 (Varview), LINC00881 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000004/1 (TOPMED)
                      A=0.000014/2 (GnomAD)
                      HGVS:
                      11.

                      rs1490566176 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        3:157122985 (GRCh38)
                        3:156840774 (GRCh37)
                        Canonical SPDI:
                        NC_000003.12:157122984:A:G
                        Gene:
                        LINC00880 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000004/1 (TOPMED)
                        G=0.000007/1 (GnomAD)
                        HGVS:
                        12.

                        rs1490494530 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          3:157118676 (GRCh38)
                          3:156836465 (GRCh37)
                          Canonical SPDI:
                          NC_000003.12:157118675:T:C
                          Gene:
                          LINC00880 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0.000245/4 (ALFA)
                          C=0.00031/41 (GnomAD)
                          C=0.000446/2 (Estonian)
                          HGVS:
                          13.

                          rs1490462265 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>C [Show Flanks]
                            Chromosome:
                            3:157098865 (GRCh38)
                            3:156816654 (GRCh37)
                            Canonical SPDI:
                            NC_000003.12:157098864:A:C
                            Gene:
                            LINC00880 (Varview), LINC00881 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000004/1 (TOPMED)
                            HGVS:
                            14.

                            rs1490247611 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C,G [Show Flanks]
                              Chromosome:
                              3:157124238 (GRCh38)
                              3:156842027 (GRCh37)
                              Canonical SPDI:
                              NC_000003.12:157124237:T:C,NC_000003.12:157124237:T:G
                              Gene:
                              LINC00880 (Varview)
                              Functional Consequence:
                              upstream_transcript_variant,2KB_upstream_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000007/1 (GnomAD)
                              C=0.000008/2 (TOPMED)
                              C=0.000106/2 (TOMMO)
                              HGVS:
                              15.

                              rs1490127080 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                3:157085314 (GRCh38)
                                3:156803103 (GRCh37)
                                Canonical SPDI:
                                NC_000003.12:157085313:C:T
                                Gene:
                                LINC00880 (Varview), LINC02029 (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:
                                16.

                                rs1489985439 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  3:157115247 (GRCh38)
                                  3:156833036 (GRCh37)
                                  Canonical SPDI:
                                  NC_000003.12:157115246:T:C
                                  Gene:
                                  LINC00880 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  C=0.0002/1 (ALFA)
                                  C=0.0002/1 (Estonian)
                                  HGVS:
                                  17.

                                  rs1489970073 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    3:157099488 (GRCh38)
                                    3:156817277 (GRCh37)
                                    Canonical SPDI:
                                    NC_000003.12:157099487:A:G
                                    Gene:
                                    LINC00880 (Varview), LINC00881 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0.000071/1 (ALFA)
                                    G=0.000004/1 (TOPMED)
                                    G=0.000071/1 (TOMMO)
                                    HGVS:
                                    18.

                                    rs1489946774 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>T [Show Flanks]
                                      Chromosome:
                                      3:157124898 (GRCh38)
                                      3:156842687 (GRCh37)
                                      Canonical SPDI:
                                      NC_000003.12:157124897:A:T
                                      Gene:
                                      LINC00880 (Varview)
                                      Functional Consequence:
                                      upstream_transcript_variant,2KB_upstream_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000008/2 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1489944183 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A,C [Show Flanks]
                                        Chromosome:
                                        3:157100507 (GRCh38)
                                        3:156818296 (GRCh37)
                                        Canonical SPDI:
                                        NC_000003.12:157100506:G:A,NC_000003.12:157100506:G:C
                                        Gene:
                                        LINC00880 (Varview), LINC00881 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0./0 (ALFA)
                                        A=0.000007/1 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1489888593 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          3:157112794 (GRCh38)
                                          3:156830583 (GRCh37)
                                          Canonical SPDI:
                                          NC_000003.12:157112793:T:C
                                          Gene:
                                          LINC00880 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000007/1 (GnomAD)
                                          HGVS:

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