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Items: 1 to 20 of 2169

1.

rs1491531510 has merged into rs55914213 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    TCATTCATTCATTCATTCATTCAT>-,TCAT,TCATTCAT,TCATTCATTCAT,TCATTCATTCATTCAT,TCATTCATTCATTCATTCAT,TCATTCATTCATTCATTCATTCATTCAT,TCATTCATTCATTCATTCATTCATTCATTCAT,TCATTCATTCATTCATTCATTCATTCATTCATTCAT,TCATTCATTCATTCATTCATTCATTCATTCATTCATTCAT,TCATTCATTCATTCATTCATTCATTCATTCATTCATTCATTCAT [Show Flanks]
    Chromosome:
    15:77640840 (GRCh38)
    15:77933182 (GRCh37)
    Canonical SPDI:
    NC_000015.10:77640827:TCATTCATTCATTCATTCATTCATTCATTCATTCAT:TCATTCATTCAT,NC_000015.10:77640827:TCATTCATTCATTCATTCATTCATTCATTCATTCAT:TCATTCATTCATTCAT,NC_000015.10:77640827:TCATTCATTCATTCATTCATTCATTCATTCATTCAT:TCATTCATTCATTCATTCAT,NC_000015.10:77640827:TCATTCATTCATTCATTCATTCATTCATTCATTCAT:TCATTCATTCATTCATTCATTCAT,NC_000015.10:77640827:TCATTCATTCATTCATTCATTCATTCATTCATTCAT:TCATTCATTCATTCATTCATTCATTCAT,NC_000015.10:77640827:TCATTCATTCATTCATTCATTCATTCATTCATTCAT:TCATTCATTCATTCATTCATTCATTCATTCAT,NC_000015.10:77640827:TCATTCATTCATTCATTCATTCATTCATTCATTCAT:TCATTCATTCATTCATTCATTCATTCATTCATTCATTCAT,NC_000015.10:77640827:TCATTCATTCATTCATTCATTCATTCATTCATTCAT:TCATTCATTCATTCATTCATTCATTCATTCATTCATTCATTCAT,NC_000015.10:77640827:TCATTCATTCATTCATTCATTCATTCATTCATTCAT:TCATTCATTCATTCATTCATTCATTCATTCATTCATTCATTCATTCAT,NC_000015.10:77640827:TCATTCATTCATTCATTCATTCATTCATTCATTCAT:TCATTCATTCATTCATTCATTCATTCATTCATTCATTCATTCATTCATTCAT,NC_000015.10:77640827:TCATTCATTCATTCATTCATTCATTCATTCATTCAT:TCATTCATTCATTCATTCATTCATTCATTCATTCATTCATTCATTCATTCATTCAT
    Gene:
    LINGO1 (Varview), LINGO1-AS1 (Varview)
    Functional Consequence:
    genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant,2KB_upstream_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TCATTCATTCATTCATTCATTCATTCATTCATTCATTCATTCATTCATTCAT=0./0 (ALFA)
    -=0.0724/279 (ALSPAC)
    TCATTCAT=0.0966/484 (1000Genomes)
    HGVS:
    2.

    rs1490829867 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      15:77644026 (GRCh38)
      15:77936368 (GRCh37)
      Canonical SPDI:
      NC_000015.10:77644025:G:A
      Gene:
      LINGO1 (Varview), LINGO1-AS1 (Varview)
      Functional Consequence:
      intron_variant,genic_upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0./0 (ALFA)
      A=0.000038/10 (TOPMED)
      A=0.000071/10 (GnomAD)
      HGVS:
      3.

      rs1490675996 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        15:77643965 (GRCh38)
        15:77936307 (GRCh37)
        Canonical SPDI:
        NC_000015.10:77643964:T:C
        Gene:
        LINGO1 (Varview), LINGO1-AS1 (Varview)
        Functional Consequence:
        intron_variant,genic_upstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0./0 (ALFA)
        C=0./0 (KOREAN)
        C=0.000007/1 (GnomAD)
        C=0.000015/4 (TOPMED)
        C=0.000177/3 (TOMMO)
        HGVS:
        4.

        rs1490146843 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          15:77648923 (GRCh38)
          15:77941265 (GRCh37)
          Canonical SPDI:
          NC_000015.10:77648922:T:C
          Gene:
          LINGO1 (Varview), LINGO1-AS1 (Varview)
          Functional Consequence:
          intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0.000071/1 (ALFA)
          C=0.000004/1 (TOPMED)
          C=0.000007/1 (GnomAD)
          HGVS:
          5.

          rs1489386398 [Homo sapiens]
            Variant type:
            DEL
            Alleles:
            AG>- [Show Flanks]
            Chromosome:
            15:77645868 (GRCh38)
            15:77938210 (GRCh37)
            Canonical SPDI:
            NC_000015.10:77645867:AG:
            Gene:
            LINGO1 (Varview), LINGO1-AS1 (Varview)
            Functional Consequence:
            intron_variant,genic_upstream_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            -=0./0 (ALFA)
            -=0.000004/1 (TOPMED)
            HGVS:
            6.

            rs1488570504 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              15:77645583 (GRCh38)
              15:77937925 (GRCh37)
              Canonical SPDI:
              NC_000015.10:77645582:T:C
              Gene:
              LINGO1 (Varview), LINGO1-AS1 (Varview)
              Functional Consequence:
              intron_variant,genic_upstream_transcript_variant
              Validated:
              by frequency
              MAF:
              C=0.000021/3 (GnomAD)
              HGVS:
              7.

              rs1488477170 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                15:77644804 (GRCh38)
                15:77937146 (GRCh37)
                Canonical SPDI:
                NC_000015.10:77644803:A:G
                Gene:
                LINGO1 (Varview), LINGO1-AS1 (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=0.000007/1 (GnomAD)
                HGVS:
                8.

                rs1488434545 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>C [Show Flanks]
                  Chromosome:
                  15:77647300 (GRCh38)
                  15:77939642 (GRCh37)
                  Canonical SPDI:
                  NC_000015.10:77647299:G:C
                  Gene:
                  LINGO1 (Varview), LINGO1-AS1 (Varview)
                  Functional Consequence:
                  intron_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:
                  9.

                  rs1488015229 [Homo sapiens]
                    Variant type:
                    DEL
                    Alleles:
                    T>- [Show Flanks]
                    Chromosome:
                    15:77647408 (GRCh38)
                    15:77939750 (GRCh37)
                    Canonical SPDI:
                    NC_000015.10:77647407:T:
                    Gene:
                    LINGO1 (Varview), LINGO1-AS1 (Varview)
                    Functional Consequence:
                    intron_variant,genic_upstream_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    -=0./0 (ALFA)
                    -=0.000093/13 (GnomAD)
                    HGVS:
                    10.

                    rs1487631247 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      15:77646042 (GRCh38)
                      15:77938384 (GRCh37)
                      Canonical SPDI:
                      NC_000015.10:77646041:G:A
                      Gene:
                      LINGO1 (Varview), LINGO1-AS1 (Varview)
                      Functional Consequence:
                      intron_variant,genic_upstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000021/3 (GnomAD)
                      A=0.000038/10 (TOPMED)
                      A=0.000156/1 (1000Genomes)
                      A=0.001092/2 (Korea1K)
                      A=0.001274/21 (TOMMO)
                      A=0.001369/4 (KOREAN)
                      HGVS:
                      11.

                      rs1487423866 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        15:77646758 (GRCh38)
                        15:77939100 (GRCh37)
                        Canonical SPDI:
                        NC_000015.10:77646757:G:A
                        Gene:
                        LINGO1 (Varview), LINGO1-AS1 (Varview)
                        Functional Consequence:
                        intron_variant,genic_upstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000007/1 (GnomAD)
                        A=0.000008/2 (TOPMED)
                        HGVS:
                        12.

                        rs1486650314 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          15:77644992 (GRCh38)
                          15:77937334 (GRCh37)
                          Canonical SPDI:
                          NC_000015.10:77644991:A:G
                          Gene:
                          LINGO1 (Varview), LINGO1-AS1 (Varview)
                          Functional Consequence:
                          intron_variant,genic_upstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0.000071/1 (ALFA)
                          G=0.000004/1 (TOPMED)
                          G=0.000036/5 (GnomAD)
                          HGVS:
                          13.

                          rs1486615086 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            15:77643660 (GRCh38)
                            15:77936002 (GRCh37)
                            Canonical SPDI:
                            NC_000015.10:77643659:G:A
                            Gene:
                            LINGO1 (Varview), LINGO1-AS1 (Varview)
                            Functional Consequence:
                            intron_variant,genic_upstream_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000007/1 (GnomAD)
                            HGVS:
                            14.

                            rs1486373326 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>C [Show Flanks]
                              Chromosome:
                              15:77647178 (GRCh38)
                              15:77939520 (GRCh37)
                              Canonical SPDI:
                              NC_000015.10:77647177:G:C
                              Gene:
                              LINGO1 (Varview), LINGO1-AS1 (Varview)
                              Functional Consequence:
                              intron_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:
                              15.

                              rs1486299105 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>C [Show Flanks]
                                Chromosome:
                                15:77641732 (GRCh38)
                                15:77934074 (GRCh37)
                                Canonical SPDI:
                                NC_000015.10:77641731:G:C
                                Gene:
                                LINGO1 (Varview), LINGO1-AS1 (Varview)
                                Functional Consequence:
                                2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant,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:
                                16.

                                rs1485309169 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>C [Show Flanks]
                                  Chromosome:
                                  15:77642218 (GRCh38)
                                  15:77934560 (GRCh37)
                                  Canonical SPDI:
                                  NC_000015.10:77642217:A:C
                                  Gene:
                                  LINGO1 (Varview), LINGO1-AS1 (Varview)
                                  Functional Consequence:
                                  intron_variant,genic_upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000004/1 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1485259447 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    15:77641213 (GRCh38)
                                    15:77933555 (GRCh37)
                                    Canonical SPDI:
                                    NC_000015.10:77641212:C:T
                                    Gene:
                                    LINGO1 (Varview), LINGO1-AS1 (Varview)
                                    Functional Consequence:
                                    2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    T=0./0 (ALFA)
                                    HGVS:
                                    18.

                                    rs1485042141 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      15:77647886 (GRCh38)
                                      15:77940228 (GRCh37)
                                      Canonical SPDI:
                                      NC_000015.10:77647885:A:G
                                      Gene:
                                      LINGO1 (Varview), LINGO1-AS1 (Varview)
                                      Functional Consequence:
                                      intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      G=0.000007/1 (GnomAD_exomes)
                                      HGVS:
                                      19.

                                      rs1484951916 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        15:77648106 (GRCh38)
                                        15:77940448 (GRCh37)
                                        Canonical SPDI:
                                        NC_000015.10:77648105:C:T
                                        Gene:
                                        LINGO1 (Varview), LINGO1-AS1 (Varview)
                                        Functional Consequence:
                                        intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000004/1 (TOPMED)
                                        T=0.000014/2 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1484865342 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          15:77641231 (GRCh38)
                                          15:77933573 (GRCh37)
                                          Canonical SPDI:
                                          NC_000015.10:77641230:T:C
                                          Gene:
                                          LINGO1 (Varview), LINGO1-AS1 (Varview)
                                          Functional Consequence:
                                          2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000007/1 (GnomAD)
                                          C=0.000015/4 (TOPMED)
                                          HGVS:

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