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Items: 1 to 20 of 4752

1.

rs1491301447 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    CT>- [Show Flanks]
    Chromosome:
    18:75711757 (GRCh38)
    18:73423712 (GRCh37)
    Canonical SPDI:
    NC_000018.10:75711756:CT:
    Gene:
    LINC01898 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    -=0./0 (ALFA)
    -=0.000004/1 (TOPMED)
    -=0.00005/4 (GnomAD)
    -=0.000156/1 (1000Genomes)
    HGVS:
    2.

    rs1491034007 has merged into rs11419714 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      TTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
      Chromosome:
      18:75702012 (GRCh38)
      18:73413967 (GRCh37)
      Canonical SPDI:
      NC_000018.10:75702000:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000018.10:75702000:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000018.10:75702000:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000018.10:75702000:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000018.10:75702000:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000018.10:75702000:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000018.10:75702000:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000018.10:75702000:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000018.10:75702000:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000018.10:75702000:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000018.10:75702000:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000018.10:75702000:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:75702000:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:75702000:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:75702000:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:75702000:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:75702000:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:75702000:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:75702000:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:75702000:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:75702000:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:75702000:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:75702000:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:75702000:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
      Gene:
      LINC01898 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      TTTTTTTTTTT=0./0 (ALFA)
      -=0.0065/24 (TWINSUK)
      -=0.0067/26 (ALSPAC)
      HGVS:
      NC_000018.10:g.75702012_75702026del, NC_000018.10:g.75702013_75702026del, NC_000018.10:g.75702014_75702026del, NC_000018.10:g.75702015_75702026del, NC_000018.10:g.75702016_75702026del, NC_000018.10:g.75702017_75702026del, NC_000018.10:g.75702018_75702026del, NC_000018.10:g.75702019_75702026del, NC_000018.10:g.75702020_75702026del, NC_000018.10:g.75702021_75702026del, NC_000018.10:g.75702022_75702026del, NC_000018.10:g.75702023_75702026del, NC_000018.10:g.75702024_75702026del, NC_000018.10:g.75702025_75702026del, NC_000018.10:g.75702026del, NC_000018.10:g.75702026dup, NC_000018.10:g.75702025_75702026dup, NC_000018.10:g.75702024_75702026dup, NC_000018.10:g.75702023_75702026dup, NC_000018.10:g.75702022_75702026dup, NC_000018.10:g.75702021_75702026dup, NC_000018.10:g.75702020_75702026dup, NC_000018.10:g.75702019_75702026dup, NC_000018.10:g.75702018_75702026dup, NC_000018.9:g.73413967_73413981del, NC_000018.9:g.73413968_73413981del, NC_000018.9:g.73413969_73413981del, NC_000018.9:g.73413970_73413981del, NC_000018.9:g.73413971_73413981del, NC_000018.9:g.73413972_73413981del, NC_000018.9:g.73413973_73413981del, NC_000018.9:g.73413974_73413981del, NC_000018.9:g.73413975_73413981del, NC_000018.9:g.73413976_73413981del, NC_000018.9:g.73413977_73413981del, NC_000018.9:g.73413978_73413981del, NC_000018.9:g.73413979_73413981del, NC_000018.9:g.73413980_73413981del, NC_000018.9:g.73413981del, NC_000018.9:g.73413981dup, NC_000018.9:g.73413980_73413981dup, NC_000018.9:g.73413979_73413981dup, NC_000018.9:g.73413978_73413981dup, NC_000018.9:g.73413977_73413981dup, NC_000018.9:g.73413976_73413981dup, NC_000018.9:g.73413975_73413981dup, NC_000018.9:g.73413974_73413981dup, NC_000018.9:g.73413973_73413981dup
      3.

      rs1490961959 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        18:75711276 (GRCh38)
        18:73423231 (GRCh37)
        Canonical SPDI:
        NC_000018.10:75711275:G:A
        Gene:
        LINC01898 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0./0 (ALFA)
        A=0.000021/3 (GnomAD)
        A=0.000026/7 (TOPMED)
        HGVS:
        4.

        rs1490876624 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          AGTT>- [Show Flanks]
          Chromosome:
          18:75696090 (GRCh38)
          18:73408045 (GRCh37)
          Canonical SPDI:
          NC_000018.10:75696088:TAGTT:T
          Gene:
          LINC01898 (Varview)
          Functional Consequence:
          non_coding_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          T=0./0 (ALFA)
          -=0.000004/1 (TOPMED)
          HGVS:
          5.

          rs1490851389 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>C [Show Flanks]
            Chromosome:
            18:75697098 (GRCh38)
            18:73409053 (GRCh37)
            Canonical SPDI:
            NC_000018.10:75697097:A:C
            Gene:
            LINC01898 (Varview)
            Functional Consequence:
            non_coding_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:
            6.

            rs1490731458 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A,T [Show Flanks]
              Chromosome:
              18:75709398 (GRCh38)
              18:73421353 (GRCh37)
              Canonical SPDI:
              NC_000018.10:75709397:G:A,NC_000018.10:75709397:G:T
              Gene:
              LINC01898 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              A=0.000022/3 (GnomAD)
              HGVS:
              7.

              rs1490078448 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>G [Show Flanks]
                Chromosome:
                18:75709190 (GRCh38)
                18:73421145 (GRCh37)
                Canonical SPDI:
                NC_000018.10:75709189:C:G
                Gene:
                LINC01898 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                G=0.000007/1 (GnomAD)
                G=0.000011/3 (TOPMED)
                HGVS:
                8.

                rs1489930802 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  18:75696235 (GRCh38)
                  18:73408190 (GRCh37)
                  Canonical SPDI:
                  NC_000018.10:75696234:A:G
                  Gene:
                  LINC01898 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000004/1 (TOPMED)
                  HGVS:
                  9.

                  rs1489818134 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    18:75710438 (GRCh38)
                    18:73422393 (GRCh37)
                    Canonical SPDI:
                    NC_000018.10:75710437:G:A
                    Gene:
                    LINC01898 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0.000071/1 (ALFA)
                    A=0.000007/1 (GnomAD)
                    HGVS:
                    10.

                    rs1489750820 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      18:75707994 (GRCh38)
                      18:73419949 (GRCh37)
                      Canonical SPDI:
                      NC_000018.10:75707993:T:C
                      Gene:
                      LINC01898 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000007/1 (GnomAD)
                      C=0.000008/2 (TOPMED)
                      HGVS:
                      11.

                      rs1489729361 [Homo sapiens]
                        Variant type:
                        SNV:
                        Alleles:
                        TG>-
                        Chromosome:
                        no mapping
                        Canonical SPDI:
                        12.

                        rs1489559474 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          18:75697982 (GRCh38)
                          18:73409937 (GRCh37)
                          Canonical SPDI:
                          NC_000018.10:75697981:T:C
                          Gene:
                          LINC01898 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          C=0./0 (ALFA)
                          HGVS:
                          13.

                          rs1489271398 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>G [Show Flanks]
                            Chromosome:
                            18:75707528 (GRCh38)
                            18:73419483 (GRCh37)
                            Canonical SPDI:
                            NC_000018.10:75707527:C:G
                            Gene:
                            LINC01898 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000004/1 (TOPMED)
                            G=0.000014/2 (GnomAD)
                            HGVS:
                            14.

                            rs1488962400 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              18:75700124 (GRCh38)
                              18:73412079 (GRCh37)
                              Canonical SPDI:
                              NC_000018.10:75700123:A:G
                              Gene:
                              LINC01898 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000011/3 (TOPMED)
                              G=0.000014/2 (GnomAD)
                              HGVS:
                              15.

                              rs1488940254 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                18:75700645 (GRCh38)
                                18:73412600 (GRCh37)
                                Canonical SPDI:
                                NC_000018.10:75700644:A:G
                                Gene:
                                LINC01898 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000004/1 (TOPMED)
                                HGVS:
                                16.

                                rs1488707628 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  18:75701654 (GRCh38)
                                  18:73413609 (GRCh37)
                                  Canonical SPDI:
                                  NC_000018.10:75701653:T:C
                                  Gene:
                                  LINC01898 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000007/1 (GnomAD)
                                  C=0.000008/2 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1488680861 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    18:75713775 (GRCh38)
                                    18:73425730 (GRCh37)
                                    Canonical SPDI:
                                    NC_000018.10:75713774:A:G
                                    Gene:
                                    LINC01898 (Varview)
                                    Functional Consequence:
                                    2KB_upstream_variant,upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000004/1 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1488662411 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      18:75699073 (GRCh38)
                                      18:73411028 (GRCh37)
                                      Canonical SPDI:
                                      NC_000018.10:75699072:C:T
                                      Gene:
                                      LINC01898 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0.000214/3 (ALFA)
                                      T=0.000014/2 (GnomAD)
                                      T=0.000019/5 (TOPMED)
                                      T=0.003333/2 (NorthernSweden)
                                      HGVS:
                                      19.

                                      rs1488636722 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>C [Show Flanks]
                                        Chromosome:
                                        18:75704951 (GRCh38)
                                        18:73416906 (GRCh37)
                                        Canonical SPDI:
                                        NC_000018.10:75704950:A:C
                                        Gene:
                                        LINC01898 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000007/1 (GnomAD)
                                        C=0.000008/2 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1488629892 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          18:75700347 (GRCh38)
                                          18:73412302 (GRCh37)
                                          Canonical SPDI:
                                          NC_000018.10:75700346:T:C
                                          Gene:
                                          LINC01898 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000021/3 (GnomAD)
                                          HGVS:

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