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 9750

1.

rs1491572045 [Homo sapiens]
    Variant type:
    SNV:
    Alleles:
    TT>-
    Chromosome:
    no mapping
    Canonical SPDI:
    2.

    rs1491569820 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      GT>- [Show Flanks]
      Chromosome:
      1:13502113 (GRCh38)
      1:13828568 (GRCh37)
      Canonical SPDI:
      NC_000001.11:13502111:TGT:T
      Gene:
      LRRC38 (Varview)
      Functional Consequence:
      intron_variant
      HGVS:
      3.

      rs1491522903 [Homo sapiens]
        Variant type:
        INS
        Alleles:
        ->T [Show Flanks]
        Chromosome:
        1:13481787 (GRCh38)
        1:13808242 (GRCh37)
        Canonical SPDI:
        NC_000001.11:13481787::T
        Gene:
        LRRC38 (Varview)
        Functional Consequence:
        intron_variant,genic_downstream_transcript_variant
        Validated:
        by frequency,by cluster
        MAF:
        T=0.00448/103 (GnomAD)
        T=0.00569/10 (Korea1K)
        T=0.01017/286 (TOMMO)
        HGVS:
        4.

        rs1491455430 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          ->G [Show Flanks]
          Chromosome:
          1:13502112 (GRCh38)
          1:13828568 (GRCh37)
          Canonical SPDI:
          NC_000001.11:13502112:G:GG
          Gene:
          LRRC38 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          GG=0./0 (ALFA)
          HGVS:
          5.

          rs1491442376 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            CC>-,C [Show Flanks]
            Chromosome:
            1:13481788 (GRCh38)
            1:13808242 (GRCh37)
            Canonical SPDI:
            NC_000001.11:13481786:CCC:C,NC_000001.11:13481786:CCC:CC
            Gene:
            LRRC38 (Varview)
            Functional Consequence:
            intron_variant,genic_downstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0.00025/3 (ALFA)
            -=0.00169/1 (NorthernSweden)
            -=0.0128/201 (TOMMO)
            -=0.01767/31 (Korea1K)
            -=0.02725/646 (GnomAD)
            HGVS:
            6.

            rs1491348081 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              ->CAAA [Show Flanks]
              Chromosome:
              1:13498250 (GRCh38)
              1:13824703 (GRCh37)
              Canonical SPDI:
              NC_000001.11:13498250:AAA:AAACAAA
              Gene:
              LRRC38 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              AAACAAA=0./0 (ALFA)
              HGVS:
              7.

              rs1491298709 [Homo sapiens]
                Variant type:
                DEL
                Alleles:
                CA>- [Show Flanks]
                Chromosome:
                1:13500254 (GRCh38)
                1:13826707 (GRCh37)
                Canonical SPDI:
                NC_000001.11:13500253:CA:
                Gene:
                LRRC38 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                -=0.00303/36 (ALFA)
                HGVS:
                8.

                rs1491234075 has merged into rs79709070 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  AAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA [Show Flanks]
                  Chromosome:
                  1:13482591 (GRCh38)
                  1:13809045 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:13482581:AAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000001.11:13482581:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:13482581:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:13482581:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:13482581:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:13482581:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:13482581:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA
                  Gene:
                  LRRC38 (Varview)
                  Functional Consequence:
                  genic_downstream_transcript_variant,intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  AAAAAAAAAAAAAA=0./0 (ALFA)
                  HGVS:
                  9.

                  rs1491191364 has merged into rs112781450 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAAAAA [Show Flanks]
                    Chromosome:
                    1:13498256 (GRCh38)
                    1:13824708 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:13498249:AAAAAAAAAAA:AAAAAA,NC_000001.11:13498249:AAAAAAAAAAA:AAAAAAA,NC_000001.11:13498249:AAAAAAAAAAA:AAAAAAAA,NC_000001.11:13498249:AAAAAAAAAAA:AAAAAAAAA,NC_000001.11:13498249:AAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:13498249:AAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:13498249:AAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:13498249:AAAAAAAAAAA:AAAAAAAAAAAAAAAAA
                    Gene:
                    LRRC38 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    AAAAAAAA=0./0 (ALFA)
                    -=0.25/10 (GENOME_DK)
                    -=0.283333/170 (NorthernSweden)
                    -=0.328324/86904 (TOPMED)
                    -=0.420727/2107 (1000Genomes)
                    HGVS:
                    10.

                    rs1491191344 has merged into rs33912498 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAAA [Show Flanks]
                      Chromosome:
                      1:13500266 (GRCh38)
                      1:13826718 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:13500254:AAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:13500254:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:13500254:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:13500254:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:13500254:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:13500254:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:13500254:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:13500254:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA
                      Gene:
                      LRRC38 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      AAAAAAAAAAAAA=0./0 (ALFA)
                      HGVS:
                      11.

                      rs1491138493 [Homo sapiens]
                        Variant type:
                        INS
                        Alleles:
                        ->C,G [Show Flanks]
                        Chromosome:
                        1:13482582 (GRCh38)
                        1:13809037 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:13482582::C,NC_000001.11:13482582::G
                        Gene:
                        LRRC38 (Varview)
                        Functional Consequence:
                        intron_variant,genic_downstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        HGVS:
                        12.

                        rs1491108574 [Homo sapiens]
                          Variant type:
                          INS
                          Alleles:
                          ->G [Show Flanks]
                          Chromosome:
                          1:13488031 (GRCh38)
                          1:13814486 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:13488031::G
                          Gene:
                          LRRC38 (Varview), LOC102724856 (Varview)
                          Functional Consequence:
                          intron_variant,genic_downstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0.001121/5 (ALFA)
                          G=0.000248/4 (TOMMO)
                          G=0.002199/249 (GnomAD)
                          HGVS:
                          13.

                          rs1491081475 [Homo sapiens]
                            Variant type:
                            INS
                            Alleles:
                            ->G [Show Flanks]
                            Chromosome:
                            1:13504864 (GRCh38)
                            1:13831331 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:13504864::G
                            Gene:
                            LRRC38 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency
                            MAF:
                            G=0.000008/1 (GnomAD)
                            HGVS:
                            14.

                            rs1491057776 [Homo sapiens]
                              Variant type:
                              INS
                              Alleles:
                              ->T,TTTT [Show Flanks]
                              Chromosome:
                              1:13481761 (GRCh38)
                              1:13808232 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:13481761::T,NC_000001.11:13481761::TTTT
                              Gene:
                              LRRC38 (Varview)
                              Functional Consequence:
                              intron_variant,genic_downstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              TTTT=0./0 (ALFA)
                              T=0.00008/4 (GnomAD)
                              T=0.00018/3 (TOMMO)
                              HGVS:
                              15.

                              rs1490994609 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                1:13492014 (GRCh38)
                                1:13818466 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:13492013:T:C
                                Gene:
                                LRRC38 (Varview), LOC102724856 (Varview)
                                Functional Consequence:
                                intron_variant,downstream_transcript_variant,genic_downstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000007/1 (GnomAD)
                                C=0.000011/3 (TOPMED)
                                HGVS:
                                16.

                                rs1490978126 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  1:13478777 (GRCh38)
                                  1:13805245 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:13478776:T:C
                                  Gene:
                                  LRRC38 (Varview)
                                  Functional Consequence:
                                  intron_variant,genic_downstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000021/3 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1490970822 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>G [Show Flanks]
                                    Chromosome:
                                    1:13496037 (GRCh38)
                                    1:13822489 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:13496036:T:G
                                    Gene:
                                    LRRC38 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000007/1 (GnomAD)
                                    G=0.000008/2 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1490936393 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      1:13479152 (GRCh38)
                                      1:13805620 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:13479151:T:C
                                      Gene:
                                      LRRC38 (Varview)
                                      Functional Consequence:
                                      intron_variant,genic_downstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000021/3 (GnomAD)
                                      C=0.000026/7 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1490725274 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        1:13493751 (GRCh38)
                                        1:13820203 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:13493750:T:C
                                        Gene:
                                        LRRC38 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0.0002/1 (ALFA)
                                        C=0.0002/1 (Estonian)
                                        HGVS:
                                        20.

                                        rs1490715285 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          1:13484949 (GRCh38)
                                          1:13811403 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:13484948:T:C
                                          Gene:
                                          LRRC38 (Varview)
                                          Functional Consequence:
                                          intron_variant,genic_downstream_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:

                                          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...