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1.

rs1491065869 has merged into rs141191776 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    CTCTCTCTCTCTCTCTCTCT>-,CT,CTCT,CTCTCT,CTCTCTCT,CTCTCTCTCT,CTCTCTCTCTCT,CTCTCTCTCTCTCT,CTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT [Show Flanks]
    Chromosome:
    5:116050796 (GRCh38)
    5:115386493 (GRCh37)
    Canonical SPDI:
    NC_000005.10:116050780:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCT,NC_000005.10:116050780:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCT,NC_000005.10:116050780:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCT,NC_000005.10:116050780:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCT,NC_000005.10:116050780:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCT,NC_000005.10:116050780:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCT,NC_000005.10:116050780:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000005.10:116050780:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000005.10:116050780:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000005.10:116050780:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000005.10:116050780:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000005.10:116050780:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000005.10:116050780:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000005.10:116050780:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000005.10:116050780:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000005.10:116050780:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000005.10:116050780:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000005.10:116050780:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000005.10:116050780:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT
    Gene:
    ARL14EPL (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TCTCTCTCTCTCTCTCT=0./0 (ALFA)
    HGVS:
    NC_000005.10:g.116050782CT[7], NC_000005.10:g.116050782CT[8], NC_000005.10:g.116050782CT[9], NC_000005.10:g.116050782CT[10], NC_000005.10:g.116050782CT[11], NC_000005.10:g.116050782CT[12], NC_000005.10:g.116050782CT[13], NC_000005.10:g.116050782CT[14], NC_000005.10:g.116050782CT[15], NC_000005.10:g.116050782CT[16], NC_000005.10:g.116050782CT[18], NC_000005.10:g.116050782CT[19], NC_000005.10:g.116050782CT[20], NC_000005.10:g.116050782CT[21], NC_000005.10:g.116050782CT[22], NC_000005.10:g.116050782CT[23], NC_000005.10:g.116050782CT[24], NC_000005.10:g.116050782CT[25], NC_000005.10:g.116050782CT[27], NC_000005.9:g.115386479CT[7], NC_000005.9:g.115386479CT[8], NC_000005.9:g.115386479CT[9], NC_000005.9:g.115386479CT[10], NC_000005.9:g.115386479CT[11], NC_000005.9:g.115386479CT[12], NC_000005.9:g.115386479CT[13], NC_000005.9:g.115386479CT[14], NC_000005.9:g.115386479CT[15], NC_000005.9:g.115386479CT[16], NC_000005.9:g.115386479CT[18], NC_000005.9:g.115386479CT[19], NC_000005.9:g.115386479CT[20], NC_000005.9:g.115386479CT[21], NC_000005.9:g.115386479CT[22], NC_000005.9:g.115386479CT[23], NC_000005.9:g.115386479CT[24], NC_000005.9:g.115386479CT[25], NC_000005.9:g.115386479CT[27]
    2.

    rs1490869139 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      CAC>- [Show Flanks]
      Chromosome:
      5:116050852 (GRCh38)
      5:115386549 (GRCh37)
      Canonical SPDI:
      NC_000005.10:116050851:CAC:
      Gene:
      ARL14EPL (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      -=0./0 (ALFA)
      HGVS:
      3.

      rs1490563627 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>T [Show Flanks]
        Chromosome:
        5:116057101 (GRCh38)
        5:115392798 (GRCh37)
        Canonical SPDI:
        NC_000005.10:116057100:G:T
        Gene:
        ARL14EPL (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        T=0./0 (ALFA)
        T=0.000029/4 (GnomAD)
        HGVS:
        4.

        rs1490475287 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>G,T [Show Flanks]
          Chromosome:
          5:116051742 (GRCh38)
          5:115387439 (GRCh37)
          Canonical SPDI:
          NC_000005.10:116051741:C:G,NC_000005.10:116051741:C:T
          Gene:
          ARL14EPL (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0./0 (ALFA)
          G=0.000019/5 (TOPMED)
          T=0.000035/1 (TOMMO)
          HGVS:
          5.

          rs1490116035 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>T [Show Flanks]
            Chromosome:
            5:116058926 (GRCh38)
            5:115394623 (GRCh37)
            Canonical SPDI:
            NC_000005.10:116058925:G:T
            Gene:
            ARL14EPL (Varview)
            Functional Consequence:
            synonymous_variant,coding_sequence_variant
            HGVS:
            6.

            rs1490052033 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>T [Show Flanks]
              Chromosome:
              5:116051274 (GRCh38)
              5:115386971 (GRCh37)
              Canonical SPDI:
              NC_000005.10:116051273:G:T
              Gene:
              ARL14EPL (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:
              7.

              rs1489998500 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A,C [Show Flanks]
                Chromosome:
                5:116051379 (GRCh38)
                5:115387076 (GRCh37)
                Canonical SPDI:
                NC_000005.10:116051378:G:A,NC_000005.10:116051378:G:C
                Gene:
                ARL14EPL (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0.000084/1 (ALFA)
                C=0.000007/1 (GnomAD)
                A=0.000283/5 (TOMMO)
                HGVS:
                8.

                rs1489668660 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  5:116058366 (GRCh38)
                  5:115394063 (GRCh37)
                  Canonical SPDI:
                  NC_000005.10:116058365:G:A
                  Gene:
                  ARL14EPL (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.

                  rs1489443865 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>A,C [Show Flanks]
                    Chromosome:
                    5:116054588 (GRCh38)
                    5:115390285 (GRCh37)
                    Canonical SPDI:
                    NC_000005.10:116054587:T:A,NC_000005.10:116054587:T:C
                    Gene:
                    ARL14EPL (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000023/6 (TOPMED)
                    A=0.000212/4 (TOMMO)
                    HGVS:
                    10.

                    rs1489364344 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>G [Show Flanks]
                      Chromosome:
                      5:116057807 (GRCh38)
                      5:115393504 (GRCh37)
                      Canonical SPDI:
                      NC_000005.10:116057806:C:G
                      Gene:
                      ARL14EPL (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0.000071/1 (ALFA)
                      G=0.000026/7 (TOPMED)
                      G=0.000029/4 (GnomAD)
                      HGVS:
                      11.

                      rs1489341201 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        5:116058731 (GRCh38)
                        5:115394428 (GRCh37)
                        Canonical SPDI:
                        NC_000005.10:116058730:G:A
                        Gene:
                        ARL14EPL (Varview)
                        Functional Consequence:
                        missense_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000004/1 (TOPMED)
                        HGVS:
                        12.

                        rs1489169037 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>G [Show Flanks]
                          Chromosome:
                          5:116058477 (GRCh38)
                          5:115394174 (GRCh37)
                          Canonical SPDI:
                          NC_000005.10:116058476:C:G
                          Gene:
                          ARL14EPL (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:
                          13.

                          rs1489150839 [Homo sapiens]
                            Variant type:
                            DEL
                            Alleles:
                            A>- [Show Flanks]
                            Chromosome:
                            5:116052398 (GRCh38)
                            5:115388095 (GRCh37)
                            Canonical SPDI:
                            NC_000005.10:116052397:A:
                            Gene:
                            ARL14EPL (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            -=0./0 (ALFA)
                            -=0.000008/2 (TOPMED)
                            HGVS:
                            14.

                            rs1488939313 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              5:116056383 (GRCh38)
                              5:115392080 (GRCh37)
                              Canonical SPDI:
                              NC_000005.10:116056382:T:C
                              Gene:
                              ARL14EPL (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000004/1 (TOPMED)
                              HGVS:
                              15.

                              rs1488571960 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                5:116054089 (GRCh38)
                                5:115389786 (GRCh37)
                                Canonical SPDI:
                                NC_000005.10:116054088:A:G
                                Gene:
                                ARL14EPL (Varview)
                                Functional Consequence:
                                5_prime_UTR_variant,missense_variant,coding_sequence_variant
                                Validated:
                                by frequency
                                MAF:
                                G=0.000007/1 (GnomAD_exomes)
                                HGVS:
                                16.

                                rs1488311046 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A,C [Show Flanks]
                                  Chromosome:
                                  5:116052059 (GRCh38)
                                  5:115387756 (GRCh37)
                                  Canonical SPDI:
                                  NC_000005.10:116052058:G:A,NC_000005.10:116052058:G:C
                                  Gene:
                                  ARL14EPL (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  A=0./0 (GnomAD)
                                  C=0.000004/1 (TOPMED)
                                  C=0.000035/1 (TOMMO)
                                  HGVS:
                                  17.

                                  rs1488301786 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>A,G [Show Flanks]
                                    Chromosome:
                                    5:116053619 (GRCh38)
                                    5:115389316 (GRCh37)
                                    Canonical SPDI:
                                    NC_000005.10:116053618:T:A,NC_000005.10:116053618:T:G
                                    Gene:
                                    ARL14EPL (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000004/1 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1488248683 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      5:116049354 (GRCh38)
                                      5:115385051 (GRCh37)
                                      Canonical SPDI:
                                      NC_000005.10:116049353:A:G
                                      Gene:
                                      ARL14EPL (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      G=0.000007/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1488170920 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>G,T [Show Flanks]
                                        Chromosome:
                                        5:116050355 (GRCh38)
                                        5:115386052 (GRCh37)
                                        Canonical SPDI:
                                        NC_000005.10:116050354:C:G,NC_000005.10:116050354:C:T
                                        Gene:
                                        ARL14EPL (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.00472/1 (Vietnamese)
                                        HGVS:
                                        20.

                                        rs1488051410 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          5:116056228 (GRCh38)
                                          5:115391925 (GRCh37)
                                          Canonical SPDI:
                                          NC_000005.10:116056227:C:T
                                          Gene:
                                          ARL14EPL (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000007/1 (GnomAD)
                                          HGVS:

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