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Links from Gene

Items: 1 to 20 of 879

1.

rs1490524568 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    AACACACA>- [Show Flanks]
    Chromosome:
    11:4998194 (GRCh38)
    11:5019424 (GRCh37)
    Canonical SPDI:
    NC_000011.10:4998189:CACAAACACACA:CACA
    Gene:
    OR51L1 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    CACA=0./0 (ALFA)
    -=0.00001/1 (GnomAD)
    HGVS:
    2.

    rs1489340678 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      11:4999219 (GRCh38)
      11:5020449 (GRCh37)
      Canonical SPDI:
      NC_000011.10:4999218:A:G
      Gene:
      OR51L1 (Varview)
      Functional Consequence:
      coding_sequence_variant,synonymous_variant
      Validated:
      by frequency
      MAF:
      G=0.000004/1 (GnomAD_exomes)
      HGVS:
      3.

      rs1488893359 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A,C [Show Flanks]
        Chromosome:
        11:4999291 (GRCh38)
        11:5020521 (GRCh37)
        Canonical SPDI:
        NC_000011.10:4999290:G:A,NC_000011.10:4999290:G:C
        Gene:
        OR51L1 (Varview)
        Functional Consequence:
        coding_sequence_variant,synonymous_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0.000051/1 (ALFA)
        A=0.000004/1 (GnomAD_exomes)
        C=0.000004/1 (TOPMED)
        HGVS:
        4.

        rs1487372164 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>A [Show Flanks]
          Chromosome:
          11:4999852 (GRCh38)
          11:5021082 (GRCh37)
          Canonical SPDI:
          NC_000011.10:4999851:C:A
          Gene:
          OR51L1 (Varview)
          Functional Consequence:
          missense_variant,coding_sequence_variant
          Validated:
          by frequency
          MAF:
          A=0.000004/1 (GnomAD_exomes)
          HGVS:
          5.

          rs1486434125 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            11:4997484 (GRCh38)
            11:5018714 (GRCh37)
            Canonical SPDI:
            NC_000011.10:4997483:C:T
            Gene:
            OR51L1 (Varview)
            Functional Consequence:
            5_prime_UTR_variant
            Validated:
            by frequency,by alfa
            MAF:
            T=0./0 (ALFA)
            T=0.000008/2 (TOPMED)
            HGVS:
            6.

            rs1486078891 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              11:4998420 (GRCh38)
              11:5019650 (GRCh37)
              Canonical SPDI:
              NC_000011.10:4998419:A:G
              Gene:
              OR51L1 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              G=0./0 (ALFA)
              G=0.000007/1 (GnomAD)
              HGVS:
              7.

              rs1485706194 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A,T [Show Flanks]
                Chromosome:
                11:4999448 (GRCh38)
                11:5020678 (GRCh37)
                Canonical SPDI:
                NC_000011.10:4999447:G:A,NC_000011.10:4999447:G:T
                Gene:
                OR51L1 (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant,stop_gained
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0.000043/1 (ALFA)
                T=0.000004/1 (TOPMED)
                A=0.000016/4 (GnomAD_exomes)
                A=0.000021/3 (GnomAD)
                HGVS:
                8.

                rs1485325049 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  CACACGCA>- [Show Flanks]
                  Chromosome:
                  11:4998232 (GRCh38)
                  11:5019462 (GRCh37)
                  Canonical SPDI:
                  NC_000011.10:4998229:CACACACGCA:CA
                  Gene:
                  OR51L1 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  CA=0./0 (ALFA)
                  -=0.000008/1 (GnomAD)
                  -=0.000312/2 (1000Genomes)
                  HGVS:
                  9.

                  rs1485079727 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A,C [Show Flanks]
                    Chromosome:
                    11:5000356 (GRCh38)
                    11:5021586 (GRCh37)
                    Canonical SPDI:
                    NC_000011.10:5000355:G:A,NC_000011.10:5000355:G:C
                    Gene:
                    OR51L1 (Varview)
                    Functional Consequence:
                    3_prime_UTR_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0./0 (ALFA)
                    HGVS:
                    10.

                    rs1484755824 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      A>- [Show Flanks]
                      Chromosome:
                      11:4999876 (GRCh38)
                      11:5021106 (GRCh37)
                      Canonical SPDI:
                      NC_000011.10:4999875:AAA:AA
                      Gene:
                      OR51L1 (Varview)
                      Functional Consequence:
                      frameshift_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      AA=0./0 (ALFA)
                      -=0.000011/3 (TOPMED)
                      -=0.000106/2 (TOMMO)
                      HGVS:
                      11.

                      rs1483923444 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        11:4997570 (GRCh38)
                        11:5018800 (GRCh37)
                        Canonical SPDI:
                        NC_000011.10:4997569:C:T
                        Gene:
                        OR51L1 (Varview)
                        Functional Consequence:
                        5_prime_UTR_variant
                        HGVS:
                        12.

                        rs1482255942 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          11:4999400 (GRCh38)
                          11:5020630 (GRCh37)
                          Canonical SPDI:
                          NC_000011.10:4999399:A:G
                          Gene:
                          OR51L1 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          G=0./0 (ALFA)
                          HGVS:
                          13.

                          rs1482057678 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>C,G [Show Flanks]
                            Chromosome:
                            11:5000106 (GRCh38)
                            11:5021336 (GRCh37)
                            Canonical SPDI:
                            NC_000011.10:5000105:A:C,NC_000011.10:5000105:A:G
                            Gene:
                            OR51L1 (Varview)
                            Functional Consequence:
                            3_prime_UTR_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            G=0./0 (ALFA)
                            HGVS:
                            14.

                            rs1481791525 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              AACACA>- [Show Flanks]
                              Chromosome:
                              11:4998194 (GRCh38)
                              11:5019424 (GRCh37)
                              Canonical SPDI:
                              NC_000011.10:4998189:CACAAACACA:CACA
                              Gene:
                              OR51L1 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              CACA=0./0 (ALFA)
                              -=0.00011/9 (GnomAD)
                              HGVS:
                              15.

                              rs1480038048 has merged into rs3066001 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                ACACACACACACACACACACACACACACACAC>-,ACAC,ACACACAC,ACACACACAC,ACACACACACAC,ACACACACACACAC,ACACACACACACACAC,ACACACACACACACACAC,ACACACACACACACACACAC,ACACACACACACACACACACAC,ACACACACACACACACACACACAC,ACACACACACACACACACACACACAC,ACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACAC [Show Flanks]
                                Chromosome:
                                11:4998205 (GRCh38)
                                11:5019435 (GRCh37)
                                Canonical SPDI:
                                NC_000011.10:4998194:ACACACACACACACACACACACACACACACACACACACACAC:ACACACACAC,NC_000011.10:4998194:ACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACAC,NC_000011.10:4998194:ACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACAC,NC_000011.10:4998194:ACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACAC,NC_000011.10:4998194:ACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACAC,NC_000011.10:4998194:ACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACAC,NC_000011.10:4998194:ACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACAC,NC_000011.10:4998194:ACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACAC,NC_000011.10:4998194:ACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACAC,NC_000011.10:4998194:ACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACAC,NC_000011.10:4998194:ACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACAC,NC_000011.10:4998194:ACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACAC,NC_000011.10:4998194:ACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACAC,NC_000011.10:4998194:ACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACAC,NC_000011.10:4998194:ACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACAC,NC_000011.10:4998194:ACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACAC,NC_000011.10:4998194:ACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000011.10:4998194:ACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000011.10:4998194:ACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACAC
                                Gene:
                                OR51L1 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                ACACACACACACACACAC=0./0 (ALFA)
                                HGVS:
                                NC_000011.10:g.4998195AC[5], NC_000011.10:g.4998195AC[7], NC_000011.10:g.4998195AC[9], NC_000011.10:g.4998195AC[10], NC_000011.10:g.4998195AC[11], NC_000011.10:g.4998195AC[12], NC_000011.10:g.4998195AC[13], NC_000011.10:g.4998195AC[14], NC_000011.10:g.4998195AC[15], NC_000011.10:g.4998195AC[16], NC_000011.10:g.4998195AC[17], NC_000011.10:g.4998195AC[18], NC_000011.10:g.4998195AC[19], NC_000011.10:g.4998195AC[20], NC_000011.10:g.4998195AC[22], NC_000011.10:g.4998195AC[23], NC_000011.10:g.4998195AC[24], NC_000011.10:g.4998195AC[25], NC_000011.10:g.4998195AC[26], NC_000011.9:g.5019425AC[5], NC_000011.9:g.5019425AC[7], NC_000011.9:g.5019425AC[9], NC_000011.9:g.5019425AC[10], NC_000011.9:g.5019425AC[11], NC_000011.9:g.5019425AC[12], NC_000011.9:g.5019425AC[13], NC_000011.9:g.5019425AC[14], NC_000011.9:g.5019425AC[15], NC_000011.9:g.5019425AC[16], NC_000011.9:g.5019425AC[17], NC_000011.9:g.5019425AC[18], NC_000011.9:g.5019425AC[19], NC_000011.9:g.5019425AC[20], NC_000011.9:g.5019425AC[22], NC_000011.9:g.5019425AC[23], NC_000011.9:g.5019425AC[24], NC_000011.9:g.5019425AC[25], NC_000011.9:g.5019425AC[26]
                                16.

                                rs1479943789 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  11:5000336 (GRCh38)
                                  11:5021566 (GRCh37)
                                  Canonical SPDI:
                                  NC_000011.10:5000335:A:G
                                  Gene:
                                  OR51L1 (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:
                                  17.

                                  rs1479713907 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    11:4997828 (GRCh38)
                                    11:5019058 (GRCh37)
                                    Canonical SPDI:
                                    NC_000011.10:4997827:G:A
                                    Gene:
                                    OR51L1 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000004/1 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1478903640 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      11:4999134 (GRCh38)
                                      11:5020364 (GRCh37)
                                      Canonical SPDI:
                                      NC_000011.10:4999133:T:C
                                      Gene:
                                      OR51L1 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      C=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      19.

                                      rs1478429474 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        TT>- [Show Flanks]
                                        Chromosome:
                                        11:4999173 (GRCh38)
                                        11:5020403 (GRCh37)
                                        Canonical SPDI:
                                        NC_000011.10:4999171:TTT:T
                                        Gene:
                                        OR51L1 (Varview)
                                        Functional Consequence:
                                        frameshift_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        T=0./0 (ALFA)
                                        -=0.000004/1 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1477270712 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>A,C [Show Flanks]
                                          Chromosome:
                                          11:4999468 (GRCh38)
                                          11:5020698 (GRCh37)
                                          Canonical SPDI:
                                          NC_000011.10:4999467:T:A,NC_000011.10:4999467:T:C
                                          Gene:
                                          OR51L1 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,synonymous_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0./0 (ALFA)
                                          A=0.000004/1 (GnomAD_exomes)
                                          A=0.000007/1 (GnomAD)
                                          HGVS:

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