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Links from Gene

Items: 1 to 20 of 986

1.

rs1489486195 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    C>- [Show Flanks]
    Chromosome:
    11:5324565 (GRCh38)
    11:5345795 (GRCh37)
    Canonical SPDI:
    NC_000011.10:5324564:C:
    Gene:
    OR51B2 (Varview)
    Functional Consequence:
    2KB_upstream_variant,upstream_transcript_variant
    Validated:
    by frequency,by alfa
    MAF:
    -=0.000094/1 (ALFA)
    -=0.000004/1 (TOPMED)
    HGVS:
    2.

    rs1489196709 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A,T [Show Flanks]
      Chromosome:
      11:5323893 (GRCh38)
      11:5345123 (GRCh37)
      Canonical SPDI:
      NC_000011.10:5323892:G:A,NC_000011.10:5323892:G:T
      Gene:
      OR51B2 (Varview)
      Functional Consequence:
      coding_sequence_variant,synonymous_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      A=0.000004/1 (GnomAD_exomes)
      T=0.000007/1 (GnomAD)
      T=0.000008/2 (TOPMED)
      HGVS:
      3.

      rs1488946499 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        11:5323111 (GRCh38)
        11:5344341 (GRCh37)
        Canonical SPDI:
        NC_000011.10:5323110:A:G
        Gene:
        OR51B2 (Varview)
        Functional Consequence:
        downstream_transcript_variant,500B_downstream_variant
        Validated:
        by frequency,by alfa
        MAF:
        G=0./0 (ALFA)
        G=0.000008/2 (TOPMED)
        HGVS:
        4.

        rs1488045970 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          11:5323027 (GRCh38)
          11:5344257 (GRCh37)
          Canonical SPDI:
          NC_000011.10:5323026:T:C
          Gene:
          OR51B2 (Varview)
          Functional Consequence:
          downstream_transcript_variant,500B_downstream_variant
          Validated:
          by frequency,by alfa
          MAF:
          C=0./0 (ALFA)
          HGVS:
          5.

          rs1486667943 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>T [Show Flanks]
            Chromosome:
            11:5325730 (GRCh38)
            11:5346960 (GRCh37)
            Canonical SPDI:
            NC_000011.10:5325729:G:T
            Gene:
            OR51B2 (Varview)
            Functional Consequence:
            2KB_upstream_variant,upstream_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            T=0./0 (ALFA)
            T=0.000008/2 (TOPMED)
            HGVS:
            6.

            rs1485083677 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>A,G,T [Show Flanks]
              Chromosome:
              11:5324765 (GRCh38)
              11:5345995 (GRCh37)
              Canonical SPDI:
              NC_000011.10:5324764:C:A,NC_000011.10:5324764:C:G,NC_000011.10:5324764:C:T
              Gene:
              OR51B2 (Varview)
              Functional Consequence:
              2KB_upstream_variant,upstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0./0 (ALFA)
              HGVS:
              7.

              rs1484579686 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>A,C [Show Flanks]
                Chromosome:
                11:5325501 (GRCh38)
                11:5346731 (GRCh37)
                Canonical SPDI:
                NC_000011.10:5325500:T:A,NC_000011.10:5325500:T:C
                Gene:
                OR51B2 (Varview)
                Functional Consequence:
                2KB_upstream_variant,upstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0./0 (ALFA)
                C=0.000007/1 (GnomAD)
                C=0.000156/1 (1000Genomes)
                HGVS:
                8.

                rs1482632764 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>G [Show Flanks]
                  Chromosome:
                  11:5324524 (GRCh38)
                  11:5345754 (GRCh37)
                  Canonical SPDI:
                  NC_000011.10:5324523:T:G
                  Gene:
                  OR51B2 (Varview)
                  Functional Consequence:
                  upstream_transcript_variant,2KB_upstream_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0.000108/2 (ALFA)
                  G=0.000078/11 (GnomAD)
                  G=0.000223/1 (Estonian)
                  HGVS:
                  9.

                  rs1482415674 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    11:5324876 (GRCh38)
                    11:5346106 (GRCh37)
                    Canonical SPDI:
                    NC_000011.10:5324875:G:A
                    Gene:
                    OR51B2 (Varview)
                    Functional Consequence:
                    upstream_transcript_variant,2KB_upstream_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000008/2 (TOPMED)
                    HGVS:
                    10.

                    rs1481758249 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      11:5326083 (GRCh38)
                      11:5347313 (GRCh37)
                      Canonical SPDI:
                      NC_000011.10:5326082:C:T
                      Gene:
                      OR51B2 (Varview)
                      Functional Consequence:
                      upstream_transcript_variant,2KB_upstream_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000004/1 (TOPMED)
                      HGVS:
                      11.

                      rs1479355341 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        11:5326329 (GRCh38)
                        11:5347559 (GRCh37)
                        Canonical SPDI:
                        NC_000011.10:5326328:T:C
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0.000224/1 (ALFA)
                        C=0.000007/1 (GnomAD)
                        C=0.000223/1 (Estonian)
                        HGVS:
                        12.

                        rs1478529744 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A,G [Show Flanks]
                          Chromosome:
                          11:5323851 (GRCh38)
                          11:5345081 (GRCh37)
                          Canonical SPDI:
                          NC_000011.10:5323850:C:A,NC_000011.10:5323850:C:G
                          Gene:
                          OR51B2 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          A=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          13.

                          rs1478205799 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            11:5324121 (GRCh38)
                            11:5345351 (GRCh37)
                            Canonical SPDI:
                            NC_000011.10:5324120:G:A
                            Gene:
                            OR51B2 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,synonymous_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000008/2 (GnomAD_exomes)
                            A=0.000008/2 (TOPMED)
                            A=0.000014/2 (GnomAD)
                            HGVS:
                            14.

                            rs1477690416 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>G [Show Flanks]
                              Chromosome:
                              11:5323101 (GRCh38)
                              11:5344331 (GRCh37)
                              Canonical SPDI:
                              NC_000011.10:5323100:T:G
                              Gene:
                              OR51B2 (Varview)
                              Functional Consequence:
                              downstream_transcript_variant,500B_downstream_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000004/1 (TOPMED)
                              HGVS:
                              15.

                              rs1477488410 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                11:5325518 (GRCh38)
                                11:5346748 (GRCh37)
                                Canonical SPDI:
                                NC_000011.10:5325517:T:C
                                Gene:
                                OR51B2 (Varview)
                                Functional Consequence:
                                upstream_transcript_variant,2KB_upstream_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000007/1 (GnomAD)
                                C=0.000008/2 (TOPMED)
                                C=0.000177/3 (TOMMO)
                                C=0.000546/1 (Korea1K)
                                C=0.000684/2 (KOREAN)
                                HGVS:
                                16.

                                rs1476372782 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  11:5324870 (GRCh38)
                                  11:5346100 (GRCh37)
                                  Canonical SPDI:
                                  NC_000011.10:5324869:A:G
                                  Gene:
                                  OR51B2 (Varview)
                                  Functional Consequence:
                                  upstream_transcript_variant,2KB_upstream_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0.000071/1 (ALFA)
                                  G=0.000004/1 (TOPMED)
                                  G=0.000007/1 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1474855785 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    11:5323447 (GRCh38)
                                    11:5344677 (GRCh37)
                                    Canonical SPDI:
                                    NC_000011.10:5323446:A:G
                                    Gene:
                                    OR51B2 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,missense_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    G=0.000071/1 (ALFA)
                                    G=0.000004/1 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1474092031 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      11:5324048 (GRCh38)
                                      11:5345278 (GRCh37)
                                      Canonical SPDI:
                                      NC_000011.10:5324047:A:G
                                      Gene:
                                      OR51B2 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      G=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      19.

                                      rs1474027451 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        11:5322897 (GRCh38)
                                        11:5344127 (GRCh37)
                                        Canonical SPDI:
                                        NC_000011.10:5322896:G:A
                                        Gene:
                                        OR51B2 (Varview)
                                        Functional Consequence:
                                        downstream_transcript_variant,500B_downstream_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000008/2 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1473961205 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>C [Show Flanks]
                                          Chromosome:
                                          11:5323412 (GRCh38)
                                          11:5344642 (GRCh37)
                                          Canonical SPDI:
                                          NC_000011.10:5323411:G:C
                                          Gene:
                                          OR51B2 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,missense_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          C=0.000008/2 (GnomAD_exomes)
                                          HGVS:

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