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Items: 1 to 20 of 7883

1.

rs1491075925 has merged into rs35791914 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    AAAAAAAAAAAAAAAAAAA>-,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
    Chromosome:
    13:97435469 (GRCh38)
    13:98087723 (GRCh37)
    Canonical SPDI:
    NC_000013.11:97435465:AAAAAAAAAAAAAAAAAAAAAA:AAA,NC_000013.11:97435465:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000013.11:97435465:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000013.11:97435465:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000013.11:97435465:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000013.11:97435465:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000013.11:97435465:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000013.11:97435465:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000013.11:97435465:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000013.11:97435465:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000013.11:97435465:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000013.11:97435465:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000013.11:97435465:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000013.11:97435465:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000013.11:97435465:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:97435465:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:97435465:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:97435465:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:97435465:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:97435465:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:97435465:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:97435465:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
    Gene:
    RAP2A (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    AAA=0./0 (ALFA)
    A=0.013/65 (1000Genomes)
    HGVS:
    NC_000013.11:g.97435469_97435487del, NC_000013.11:g.97435475_97435487del, NC_000013.11:g.97435476_97435487del, NC_000013.11:g.97435477_97435487del, NC_000013.11:g.97435478_97435487del, NC_000013.11:g.97435479_97435487del, NC_000013.11:g.97435480_97435487del, NC_000013.11:g.97435481_97435487del, NC_000013.11:g.97435482_97435487del, NC_000013.11:g.97435483_97435487del, NC_000013.11:g.97435484_97435487del, NC_000013.11:g.97435485_97435487del, NC_000013.11:g.97435486_97435487del, NC_000013.11:g.97435487del, NC_000013.11:g.97435487dup, NC_000013.11:g.97435486_97435487dup, NC_000013.11:g.97435485_97435487dup, NC_000013.11:g.97435484_97435487dup, NC_000013.11:g.97435483_97435487dup, NC_000013.11:g.97435482_97435487dup, NC_000013.11:g.97435481_97435487dup, NC_000013.11:g.97435475_97435487dup, NC_000013.10:g.98087723_98087741del, NC_000013.10:g.98087729_98087741del, NC_000013.10:g.98087730_98087741del, NC_000013.10:g.98087731_98087741del, NC_000013.10:g.98087732_98087741del, NC_000013.10:g.98087733_98087741del, NC_000013.10:g.98087734_98087741del, NC_000013.10:g.98087735_98087741del, NC_000013.10:g.98087736_98087741del, NC_000013.10:g.98087737_98087741del, NC_000013.10:g.98087738_98087741del, NC_000013.10:g.98087739_98087741del, NC_000013.10:g.98087740_98087741del, NC_000013.10:g.98087741del, NC_000013.10:g.98087741dup, NC_000013.10:g.98087740_98087741dup, NC_000013.10:g.98087739_98087741dup, NC_000013.10:g.98087738_98087741dup, NC_000013.10:g.98087737_98087741dup, NC_000013.10:g.98087736_98087741dup, NC_000013.10:g.98087735_98087741dup, NC_000013.10:g.98087729_98087741dup
    2.

    rs1490971153 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      13:97451409 (GRCh38)
      13:98103663 (GRCh37)
      Canonical SPDI:
      NC_000013.11:97451408:C:T
      Gene:
      RAP2A (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      T=0.000071/1 (ALFA)
      T=0.000007/1 (GnomAD)
      HGVS:
      3.

      rs1490797891 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        13:97439034 (GRCh38)
        13:98091288 (GRCh37)
        Canonical SPDI:
        NC_000013.11:97439033:C:T
        Gene:
        RAP2A (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        T=0.000008/2 (TOPMED)
        T=0.000014/2 (GnomAD)
        HGVS:
        4.

        rs1490624551 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>T [Show Flanks]
          Chromosome:
          13:97461339 (GRCh38)
          13:98113593 (GRCh37)
          Canonical SPDI:
          NC_000013.11:97461338:G:T
          Gene:
          RAP2A (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          T=0./0 (ALFA)
          T=0.000004/1 (TOPMED)
          HGVS:
          5.

          rs1490560422 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>G [Show Flanks]
            Chromosome:
            13:97435280 (GRCh38)
            13:98087534 (GRCh37)
            Canonical SPDI:
            NC_000013.11:97435279:T:G
            Gene:
            RAP2A (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            G=0./0 (ALFA)
            G=0.000004/1 (TOPMED)
            HGVS:
            6.

            rs1490494981 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              13:97452952 (GRCh38)
              13:98105206 (GRCh37)
              Canonical SPDI:
              NC_000013.11:97452951:T:C
              Gene:
              RAP2A (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              C=0./0 (ALFA)
              C=0.000004/1 (TOPMED)
              HGVS:
              7.

              rs1490452059 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                13:97436025 (GRCh38)
                13:98088279 (GRCh37)
                Canonical SPDI:
                NC_000013.11:97436024:T:C
                Gene:
                RAP2A (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:
                8.

                rs1490449289 [Homo sapiens]
                  Variant type:
                  INS
                  Alleles:
                  ->T [Show Flanks]
                  Chromosome:
                  13:97461968 (GRCh38)
                  13:98114223 (GRCh37)
                  Canonical SPDI:
                  NC_000013.11:97461968::T
                  Gene:
                  RAP2A (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by cluster
                  MAF:
                  T=0.000107/14 (GnomAD)
                  T=0.000625/4 (1000Genomes)
                  T=0.001699/28 (TOMMO)
                  T=0.002818/5 (Korea1K)
                  HGVS:
                  9.

                  rs1490310714 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>G [Show Flanks]
                    Chromosome:
                    13:97443272 (GRCh38)
                    13:98095526 (GRCh37)
                    Canonical SPDI:
                    NC_000013.11:97443271:T:G
                    Gene:
                    RAP2A (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency
                    MAF:
                    G=0.000007/1 (GnomAD)
                    HGVS:
                    10.

                    rs1490306613 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>T [Show Flanks]
                      Chromosome:
                      13:97440246 (GRCh38)
                      13:98092500 (GRCh37)
                      Canonical SPDI:
                      NC_000013.11:97440245:G:T
                      Gene:
                      RAP2A (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      T=0.00092/15 (ALFA)
                      HGVS:
                      11.

                      rs1490293918 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>T [Show Flanks]
                        Chromosome:
                        13:97460341 (GRCh38)
                        13:98112595 (GRCh37)
                        Canonical SPDI:
                        NC_000013.11:97460340:G:T
                        Gene:
                        RAP2A (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000004/1 (TOPMED)
                        HGVS:
                        12.

                        rs1490287435 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          13:97464480 (GRCh38)
                          13:98116734 (GRCh37)
                          Canonical SPDI:
                          NC_000013.11:97464479:T:C
                          Gene:
                          RAP2A (Varview)
                          Functional Consequence:
                          3_prime_UTR_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0.000102/2 (ALFA)
                          C=0.000004/1 (TOPMED)
                          C=0.000007/1 (GnomAD)
                          C=0.000008/2 (GnomAD_exomes)
                          HGVS:
                          13.

                          rs1490117053 [Homo sapiens]
                            Variant type:
                            DEL
                            Alleles:
                            AATA>- [Show Flanks]
                            Chromosome:
                            13:97450993 (GRCh38)
                            13:98103247 (GRCh37)
                            Canonical SPDI:
                            NC_000013.11:97450992:AATA:
                            Gene:
                            RAP2A (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            -=0./0 (ALFA)
                            -=0.000004/1 (TOPMED)
                            -=0.000014/2 (GnomAD)
                            HGVS:
                            14.

                            rs1490042942 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>G [Show Flanks]
                              Chromosome:
                              13:97467428 (GRCh38)
                              13:98119682 (GRCh37)
                              Canonical SPDI:
                              NC_000013.11:97467427:C:G
                              Gene:
                              RAP2A (Varview)
                              Functional Consequence:
                              3_prime_UTR_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000004/1 (TOPMED)
                              G=0.000007/1 (GnomAD)
                              HGVS:
                              15.

                              rs1489958043 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>G [Show Flanks]
                                Chromosome:
                                13:97462941 (GRCh38)
                                13:98115195 (GRCh37)
                                Canonical SPDI:
                                NC_000013.11:97462940:T:G
                                Gene:
                                RAP2A (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000014/2 (GnomAD)
                                HGVS:
                                16.

                                rs1489894984 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  13:97444004 (GRCh38)
                                  13:98096258 (GRCh37)
                                  Canonical SPDI:
                                  NC_000013.11:97444003:T:C
                                  Gene:
                                  RAP2A (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000004/1 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1489868996 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>C [Show Flanks]
                                    Chromosome:
                                    13:97442878 (GRCh38)
                                    13:98095132 (GRCh37)
                                    Canonical SPDI:
                                    NC_000013.11:97442877:A:C
                                    Gene:
                                    RAP2A (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000004/1 (TOPMED)
                                    C=0.000007/1 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1489819197 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      13:97444404 (GRCh38)
                                      13:98096658 (GRCh37)
                                      Canonical SPDI:
                                      NC_000013.11:97444403:A:G
                                      Gene:
                                      RAP2A (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.

                                      rs1489805355 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        13:97460800 (GRCh38)
                                        13:98113054 (GRCh37)
                                        Canonical SPDI:
                                        NC_000013.11:97460799:C:T
                                        Gene:
                                        RAP2A (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000004/1 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1489699517 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>C,T [Show Flanks]
                                          Chromosome:
                                          13:97434882 (GRCh38)
                                          13:98087136 (GRCh37)
                                          Canonical SPDI:
                                          NC_000013.11:97434881:G:C,NC_000013.11:97434881:G:T
                                          Gene:
                                          RAP2A (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          C=0.000007/1 (GnomAD)
                                          C=0.000342/1 (KOREAN)
                                          HGVS:

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