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Links from Gene

Items: 1 to 20 of 1350

1.

rs1490856557 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    T>- [Show Flanks]
    Chromosome:
    9:111327247 (GRCh38)
    9:114089527 (GRCh37)
    Canonical SPDI:
    NC_000009.12:111327246:TTT:TT
    Gene:
    OR2K2 (Varview)
    Functional Consequence:
    3_prime_UTR_variant
    Validated:
    by frequency,by alfa
    MAF:
    TT=0./0 (ALFA)
    -=0.000004/1 (TOPMED)
    -=0.000007/1 (GnomAD)
    HGVS:
    2.

    rs1490047342 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C,G [Show Flanks]
      Chromosome:
      9:111326666 (GRCh38)
      9:114088946 (GRCh37)
      Canonical SPDI:
      NC_000009.12:111326665:T:C,NC_000009.12:111326665:T:G
      Validated:
      by frequency,by alfa
      MAF:
      G=0./0 (ALFA)
      C=0.000008/2 (TOPMED)
      HGVS:
      3.

      rs1489764754 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        A>- [Show Flanks]
        Chromosome:
        9:111329383 (GRCh38)
        9:114091663 (GRCh37)
        Canonical SPDI:
        NC_000009.12:111329382:AA:A
        Gene:
        OR2K2 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        AA=0./0 (ALFA)
        -=0.000011/3 (TOPMED)
        HGVS:
        4.

        rs1489196703 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          ->A [Show Flanks]
          Chromosome:
          9:111329776 (GRCh38)
          9:114092057 (GRCh37)
          Canonical SPDI:
          NC_000009.12:111329776:AAA:AAAA
          Gene:
          OR2K2 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          AAAA=0./0 (ALFA)
          A=0.000008/2 (TOPMED)
          HGVS:
          5.

          rs1486689095 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            9:111328053 (GRCh38)
            9:114090333 (GRCh37)
            Canonical SPDI:
            NC_000009.12:111328052:A:G
            Gene:
            OR2K2 (Varview)
            Functional Consequence:
            coding_sequence_variant,synonymous_variant
            Validated:
            by frequency
            MAF:
            G=0.000004/1 (GnomAD_exomes)
            HGVS:
            6.

            rs1486353046 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G,T [Show Flanks]
              Chromosome:
              9:111332190 (GRCh38)
              9:114094470 (GRCh37)
              Canonical SPDI:
              NC_000009.12:111332189:A:G,NC_000009.12:111332189:A:T
              Gene:
              OR2K2 (Varview)
              Functional Consequence:
              upstream_transcript_variant,2KB_upstream_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0.000004/1 (TOPMED)
              G=0.000029/4 (GnomAD)
              HGVS:
              7.

              rs1485756898 [Homo sapiens]
                Variant type:
                DEL
                Alleles:
                GTACTATTCCCTT>- [Show Flanks]
                Chromosome:
                9:111328462 (GRCh38)
                9:114090742 (GRCh37)
                Canonical SPDI:
                NC_000009.12:111328461:GTACTATTCCCTT:
                Gene:
                OR2K2 (Varview)
                Functional Consequence:
                5_prime_UTR_variant
                HGVS:
                8.

                rs1485660231 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  9:111329435 (GRCh38)
                  9:114091715 (GRCh37)
                  Canonical SPDI:
                  NC_000009.12:111329434:A:G
                  Gene:
                  OR2K2 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000023/6 (TOPMED)
                  G=0.000043/6 (GnomAD)
                  HGVS:
                  9.

                  rs1485537394 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>T [Show Flanks]
                    Chromosome:
                    9:111331227 (GRCh38)
                    9:114093507 (GRCh37)
                    Canonical SPDI:
                    NC_000009.12:111331226:A:T
                    Gene:
                    OR2K2 (Varview)
                    Functional Consequence:
                    upstream_transcript_variant,2KB_upstream_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000004/1 (TOPMED)
                    T=0.000007/1 (GnomAD)
                    HGVS:
                    10.

                    rs1484557725 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>A [Show Flanks]
                      Chromosome:
                      9:111331708 (GRCh38)
                      9:114093988 (GRCh37)
                      Canonical SPDI:
                      NC_000009.12:111331707:T:A
                      Gene:
                      OR2K2 (Varview)
                      Functional Consequence:
                      upstream_transcript_variant,2KB_upstream_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      A=0./0 (ALFA)
                      HGVS:
                      11.

                      rs1484451434 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        9:111330638 (GRCh38)
                        9:114092918 (GRCh37)
                        Canonical SPDI:
                        NC_000009.12:111330637:T:C
                        Gene:
                        OR2K2 (Varview)
                        Functional Consequence:
                        upstream_transcript_variant,2KB_upstream_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000008/2 (TOPMED)
                        C=0.000014/2 (GnomAD)
                        HGVS:
                        12.

                        rs1482469392 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>T [Show Flanks]
                          Chromosome:
                          9:111331692 (GRCh38)
                          9:114093972 (GRCh37)
                          Canonical SPDI:
                          NC_000009.12:111331691:A:T
                          Gene:
                          OR2K2 (Varview)
                          Functional Consequence:
                          upstream_transcript_variant,2KB_upstream_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000008/2 (TOPMED)
                          HGVS:
                          13.

                          rs1482156365 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            9:111328100 (GRCh38)
                            9:114090380 (GRCh37)
                            Canonical SPDI:
                            NC_000009.12:111328099:A:G
                            Gene:
                            OR2K2 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,missense_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            G=0.000047/1 (ALFA)
                            G=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            14.

                            rs1482082967 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              9:111328595 (GRCh38)
                              9:114090875 (GRCh37)
                              Canonical SPDI:
                              NC_000009.12:111328594:T:C
                              Gene:
                              OR2K2 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              C=0./0 (ALFA)
                              HGVS:
                              15.

                              rs1481873354 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                9:111331385 (GRCh38)
                                9:114093665 (GRCh37)
                                Canonical SPDI:
                                NC_000009.12:111331384:C:T
                                Gene:
                                OR2K2 (Varview)
                                Functional Consequence:
                                upstream_transcript_variant,2KB_upstream_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000019/5 (TOPMED)
                                T=0.000021/3 (GnomAD)
                                HGVS:
                                16.

                                rs1481821445 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>G [Show Flanks]
                                  Chromosome:
                                  9:111328472 (GRCh38)
                                  9:114090752 (GRCh37)
                                  Canonical SPDI:
                                  NC_000009.12:111328471:C:G
                                  Gene:
                                  OR2K2 (Varview)
                                  Functional Consequence:
                                  5_prime_UTR_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  G=0.000005/1 (GnomAD_exomes)
                                  HGVS:
                                  17.

                                  rs1480666409 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>A [Show Flanks]
                                    Chromosome:
                                    9:111331548 (GRCh38)
                                    9:114093828 (GRCh37)
                                    Canonical SPDI:
                                    NC_000009.12:111331547:T:A
                                    Gene:
                                    OR2K2 (Varview)
                                    Functional Consequence:
                                    upstream_transcript_variant,2KB_upstream_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000004/1 (TOPMED)
                                    A=0.000007/1 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1480008976 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>A,T [Show Flanks]
                                      Chromosome:
                                      9:111330594 (GRCh38)
                                      9:114092874 (GRCh37)
                                      Canonical SPDI:
                                      NC_000009.12:111330593:C:A,NC_000009.12:111330593:C:T
                                      Gene:
                                      OR2K2 (Varview)
                                      Functional Consequence:
                                      upstream_transcript_variant,2KB_upstream_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000008/2 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1479938618 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        9:111329196 (GRCh38)
                                        9:114091476 (GRCh37)
                                        Canonical SPDI:
                                        NC_000009.12:111329195:T:C
                                        Gene:
                                        OR2K2 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        C=0.000071/1 (ALFA)
                                        C=0.000007/1 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1479929422 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          9:111326832 (GRCh38)
                                          9:114089112 (GRCh37)
                                          Canonical SPDI:
                                          NC_000009.12:111326831:A:G
                                          Gene:
                                          OR2K2 (Varview)
                                          Functional Consequence:
                                          500B_downstream_variant,downstream_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:

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