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Links from Gene

Items: 1 to 20 of 5504

1.

rs1491515595 [Homo sapiens]
    Variant type:
    INS
    Alleles:
    ->CTTA [Show Flanks]
    Chromosome:
    13:18918777 (GRCh38)
    13:19492918 (GRCh37)
    Canonical SPDI:
    NC_000013.11:18918777::CTTA
    Gene:
    LINC00408 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    CTTA=0.00007/1 (ALFA)
    CTTA=0.00005/2 (GnomAD)
    HGVS:
    2.

    rs1491445963 [Homo sapiens]
      Variant type:
      INS
      Alleles:
      ->T,TC,TGTT [Show Flanks]
      Chromosome:
      13:18916558 (GRCh38)
      13:19490699 (GRCh37)
      Canonical SPDI:
      NC_000013.11:18916558::T,NC_000013.11:18916558::TC,NC_000013.11:18916558::TGTT
      Gene:
      LINC00408 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      TGTT=0./0 (ALFA)
      T=0.00363/6 (Korea1K)
      T=0.01012/144 (TOMMO)
      HGVS:
      3.

      rs1491368452 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        AG>- [Show Flanks]
        Chromosome:
        13:18907554 (GRCh38)
        13:19481694 (GRCh37)
        Canonical SPDI:
        NC_000013.11:18907553:AG:
        Gene:
        LINC00408 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        -=0./0 (ALFA)
        -=0.000034/9 (TOPMED)
        -=0.00009/2 (GnomAD)
        HGVS:
        4.

        rs1491221534 has merged into rs909574117 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          GTGTGTGTGTGTGTGTGTGTGT>-,GT,GTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
          Chromosome:
          13:18916572 (GRCh38)
          13:19490712 (GRCh37)
          Canonical SPDI:
          NC_000013.11:18916559:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGT,NC_000013.11:18916559:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGT,NC_000013.11:18916559:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGT,NC_000013.11:18916559:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:18916559:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:18916559:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:18916559:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:18916559:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:18916559:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:18916559:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:18916559:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
          Gene:
          LINC00408 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          GTGTGTGTGTGTGT=0./0 (ALFA)
          HGVS:
          5.

          rs1491169395 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            ->AT [Show Flanks]
            Chromosome:
            13:18916560 (GRCh38)
            13:19490701 (GRCh37)
            Canonical SPDI:
            NC_000013.11:18916560:T:TAT
            Gene:
            LINC00408 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            TAT=0./0 (ALFA)
            TA=0.00008/1 (GnomAD)
            HGVS:
            6.

            rs1491135914 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              GT>- [Show Flanks]
              Chromosome:
              13:18909426 (GRCh38)
              13:19483566 (GRCh37)
              Canonical SPDI:
              NC_000013.11:18909424:TGT:T
              Gene:
              LINC00408 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0.00143/17 (ALFA)
              -=0.00057/4 (TOMMO)
              -=0.00265/17 (1000Genomes)
              -=0.01005/11 (Korea1K)
              -=0.01088/258 (GnomAD)
              HGVS:
              7.

              rs1491040821 has merged into rs57799801 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                GG>-,GGG,GGGCACTATTGGGGGGGG,GGGG [Show Flanks]
                Chromosome:
                13:18905923 (GRCh38)
                13:19480063 (GRCh37)
                Canonical SPDI:
                NC_000013.11:18905917:GGGGGGG:GGGGG,NC_000013.11:18905917:GGGGGGG:GGGGGGGG,NC_000013.11:18905917:GGGGGGG:GGGGGGGGCACTATTGGGGGGGG,NC_000013.11:18905917:GGGGGGG:GGGGGGGGG
                Gene:
                LINC00408 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                GGGGGGGGCACTATTGGGGGGGG=0./0 (ALFA)
                -=0.0301/18 (NorthernSweden)
                -=0.0402/155 (ALSPAC)
                -=0.0499/185 (TWINSUK)
                -=0.0849/425 (1000Genomes)
                HGVS:
                8.

                rs1490854294 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  13:18918252 (GRCh38)
                  13:19492392 (GRCh37)
                  Canonical SPDI:
                  NC_000013.11:18918251:C:T
                  Gene:
                  LINC00408 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  T=0./0 (ALFA)
                  HGVS:
                  9.

                  rs1490657172 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>A,G,T [Show Flanks]
                    Chromosome:
                    13:18905506 (GRCh38)
                    13:19479646 (GRCh37)
                    Canonical SPDI:
                    NC_000013.11:18905505:C:A,NC_000013.11:18905505:C:G,NC_000013.11:18905505:C:T
                    Gene:
                    LINC00408 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    HGVS:
                    10.

                    rs1490442678 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C,G [Show Flanks]
                      Chromosome:
                      13:18908071 (GRCh38)
                      13:19482211 (GRCh37)
                      Canonical SPDI:
                      NC_000013.11:18908070:T:C,NC_000013.11:18908070:T:G
                      Gene:
                      LINC00408 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0./0 (ALFA)
                      C=0.000004/1 (TOPMED)
                      G=0.000007/1 (GnomAD)
                      HGVS:
                      11.

                      rs1490337960 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A,T [Show Flanks]
                        Chromosome:
                        13:18906767 (GRCh38)
                        13:19480907 (GRCh37)
                        Canonical SPDI:
                        NC_000013.11:18906766:G:A,NC_000013.11:18906766:G:T
                        Gene:
                        LINC00408 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000043/6 (GnomAD)
                        HGVS:
                        12.

                        rs1490322161 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          ATTCTGATTGGACTTTATTTTCATGCTGTGAT>- [Show Flanks]
                          Chromosome:
                          13:18905355 (GRCh38)
                          13:19479495 (GRCh37)
                          Canonical SPDI:
                          NC_000013.11:18905353:TATTCTGATTGGACTTTATTTTCATGCTGTGAT:T
                          Gene:
                          LINC00408 (Varview)
                          Functional Consequence:
                          2KB_upstream_variant,upstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          -=0.000053/14 (TOPMED)
                          -=0.000057/8 (GnomAD)
                          HGVS:
                          13.

                          rs1490300132 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>A [Show Flanks]
                            Chromosome:
                            13:18915569 (GRCh38)
                            13:19489709 (GRCh37)
                            Canonical SPDI:
                            NC_000013.11:18915568:C:A
                            Gene:
                            LINC00408 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000004/1 (TOPMED)
                            A=0.000007/1 (GnomAD)
                            HGVS:
                            14.

                            rs1490052520 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>G [Show Flanks]
                              Chromosome:
                              13:18921488 (GRCh38)
                              13:19495628 (GRCh37)
                              Canonical SPDI:
                              NC_000013.11:18921487:T:G
                              Gene:
                              LINC00408 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000026/7 (TOPMED)
                              G=0.000029/4 (GnomAD)
                              HGVS:
                              15.

                              rs1490020262 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A,T [Show Flanks]
                                Chromosome:
                                13:18908748 (GRCh38)
                                13:19482888 (GRCh37)
                                Canonical SPDI:
                                NC_000013.11:18908747:G:A,NC_000013.11:18908747:G:T
                                Gene:
                                LINC00408 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000004/1 (TOPMED)
                                HGVS:
                                16.

                                rs1489940448 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>C [Show Flanks]
                                  Chromosome:
                                  13:18922508 (GRCh38)
                                  13:19496648 (GRCh37)
                                  Canonical SPDI:
                                  NC_000013.11:18922507:A:C
                                  Gene:
                                  LINC00408 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000007/1 (GnomAD)
                                  C=0.000019/5 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1489808813 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    13:18915181 (GRCh38)
                                    13:19489321 (GRCh37)
                                    Canonical SPDI:
                                    NC_000013.11:18915180:G:A
                                    Gene:
                                    LINC00408 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000007/1 (GnomAD)
                                    A=0.000011/3 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1489789798 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>G [Show Flanks]
                                      Chromosome:
                                      13:18921413 (GRCh38)
                                      13:19495553 (GRCh37)
                                      Canonical SPDI:
                                      NC_000013.11:18921412:C:G
                                      Gene:
                                      LINC00408 (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:
                                      19.

                                      rs1489658410 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>G [Show Flanks]
                                        Chromosome:
                                        13:18908672 (GRCh38)
                                        13:19482812 (GRCh37)
                                        Canonical SPDI:
                                        NC_000013.11:18908671:T:G
                                        Gene:
                                        LINC00408 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        G=0./0 (ALFA)
                                        HGVS:
                                        20.

                                        rs1489567225 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>C [Show Flanks]
                                          Chromosome:
                                          13:18918064 (GRCh38)
                                          13:19492204 (GRCh37)
                                          Canonical SPDI:
                                          NC_000013.11:18918063:A:C
                                          Gene:
                                          LINC00408 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000008/2 (TOPMED)
                                          HGVS:

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