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Links from Gene

Items: 1 to 20 of 1019

1.

rs1490634539 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    11:56274832 (GRCh38)
    11:56042308 (GRCh37)
    Canonical SPDI:
    NC_000011.10:56274831:C:T
    Gene:
    OR5T1 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    T=0.000071/1 (ALFA)
    T=0.000004/1 (TOPMED)
    HGVS:
    2.

    rs1490392618 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>T [Show Flanks]
      Chromosome:
      11:56276023 (GRCh38)
      11:56043499 (GRCh37)
      Canonical SPDI:
      NC_000011.10:56276022:G:T
      Gene:
      OR5T1 (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      T=0.000007/1 (GnomAD)
      HGVS:
      3.

      rs1489874445 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        11:56274391 (GRCh38)
        11:56041867 (GRCh37)
        Canonical SPDI:
        NC_000011.10:56274390:T:C
        Gene:
        OR5T1 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        C=0./0 (ALFA)
        C=0.000023/6 (TOPMED)
        HGVS:
        4.

        rs1487692017 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          11:56276452 (GRCh38)
          11:56043928 (GRCh37)
          Canonical SPDI:
          NC_000011.10:56276451:G:A
          Gene:
          OR5T1 (Varview)
          Functional Consequence:
          missense_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.000004/1 (GnomAD_exomes)
          A=0.000004/1 (TOPMED)
          A=0.000007/1 (GnomAD)
          HGVS:
          5.

          rs1486762659 [Homo sapiens]
            Variant type:
            INS
            Alleles:
            ->GCC [Show Flanks]
            Chromosome:
            11:56276848 (GRCh38)
            11:56044325 (GRCh37)
            Canonical SPDI:
            NC_000011.10:56276848::GCC
            Gene:
            OR5T1 (Varview)
            Functional Consequence:
            downstream_transcript_variant,500B_downstream_variant
            Validated:
            by frequency,by alfa
            MAF:
            GCC=0./0 (ALFA)
            GCC=0.000007/1 (GnomAD)
            HGVS:
            6.

            rs1486227917 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              11:56276695 (GRCh38)
              11:56044171 (GRCh37)
              Canonical SPDI:
              NC_000011.10:56276694:A:G
              Gene:
              OR5T1 (Varview)
              Functional Consequence:
              3_prime_UTR_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0.000071/1 (ALFA)
              G=0.000007/1 (GnomAD)
              G=0.000015/4 (TOPMED)
              HGVS:
              7.

              rs1486054097 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>A [Show Flanks]
                Chromosome:
                11:56274008 (GRCh38)
                11:56041484 (GRCh37)
                Canonical SPDI:
                NC_000011.10:56274007:C:A
                Gene:
                OR5T1 (Varview)
                Functional Consequence:
                2KB_upstream_variant,upstream_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                A=0.00076/9 (ALFA)
                HGVS:
                8.

                rs1483087267 has merged into rs553309040 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  AA>-,A,AAA,AAAA,AAAAA,AAAAAA [Show Flanks]
                  Chromosome:
                  11:56274797 (GRCh38)
                  11:56042273 (GRCh37)
                  Canonical SPDI:
                  NC_000011.10:56274785:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000011.10:56274785:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000011.10:56274785:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000011.10:56274785:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000011.10:56274785:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000011.10:56274785:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA
                  Gene:
                  OR5T1 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  AAAAAAAAAAAA=0./0 (ALFA)
                  -=0.0736/273 (TWINSUK)
                  -=0.0815/314 (ALSPAC)
                  HGVS:
                  9.

                  rs1482446335 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>C [Show Flanks]
                    Chromosome:
                    11:56274694 (GRCh38)
                    11:56042170 (GRCh37)
                    Canonical SPDI:
                    NC_000011.10:56274693:G:C
                    Gene:
                    OR5T1 (Varview)
                    Functional Consequence:
                    5_prime_UTR_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000004/1 (TOPMED)
                    C=0.000007/1 (GnomAD)
                    HGVS:
                    10.

                    rs1482358492 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>G [Show Flanks]
                      Chromosome:
                      11:56275151 (GRCh38)
                      11:56042627 (GRCh37)
                      Canonical SPDI:
                      NC_000011.10:56275150:C:G
                      Gene:
                      OR5T1 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000019/5 (TOPMED)
                      G=0.000021/3 (GnomAD)
                      HGVS:
                      11.

                      rs1479920827 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        11:56273774 (GRCh38)
                        11:56041250 (GRCh37)
                        Canonical SPDI:
                        NC_000011.10:56273773:A:G
                        Gene:
                        OR5T1 (Varview)
                        Functional Consequence:
                        upstream_transcript_variant,2KB_upstream_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000004/1 (TOPMED)
                        G=0.000007/1 (GnomAD)
                        HGVS:
                        12.

                        rs1478887186 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          11:56274676 (GRCh38)
                          11:56042152 (GRCh37)
                          Canonical SPDI:
                          NC_000011.10:56274675:T:C
                          Gene:
                          OR5T1 (Varview)
                          Functional Consequence:
                          5_prime_UTR_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000007/1 (GnomAD)
                          HGVS:
                          13.

                          rs1478252142 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            A>- [Show Flanks]
                            Chromosome:
                            11:56274587 (GRCh38)
                            11:56042063 (GRCh37)
                            Canonical SPDI:
                            NC_000011.10:56274586:AAAAAAA:AAAAAA
                            Gene:
                            OR5T1 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            AAAAAA=0./0 (ALFA)
                            -=0.000029/4 (GnomAD)
                            -=0.000045/12 (TOPMED)
                            HGVS:
                            14.

                            rs1474951309 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>G [Show Flanks]
                              Chromosome:
                              11:56276797 (GRCh38)
                              11:56044273 (GRCh37)
                              Canonical SPDI:
                              NC_000011.10:56276796:T:G
                              Gene:
                              OR5T1 (Varview)
                              Functional Consequence:
                              3_prime_UTR_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000007/1 (GnomAD)
                              G=0.000008/2 (TOPMED)
                              HGVS:
                              15.

                              rs1473616505 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>C,G [Show Flanks]
                                Chromosome:
                                11:56275214 (GRCh38)
                                11:56042690 (GRCh37)
                                Canonical SPDI:
                                NC_000011.10:56275213:A:C,NC_000011.10:56275213:A:G
                                Gene:
                                OR5T1 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000007/1 (GnomAD)
                                G=0.000156/1 (1000Genomes)
                                HGVS:
                                16.

                                rs1473506162 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  11:56274380 (GRCh38)
                                  11:56041856 (GRCh37)
                                  Canonical SPDI:
                                  NC_000011.10:56274379:A:G
                                  Gene:
                                  OR5T1 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000008/2 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1473061646 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G,T [Show Flanks]
                                    Chromosome:
                                    11:56275150 (GRCh38)
                                    11:56042626 (GRCh37)
                                    Canonical SPDI:
                                    NC_000011.10:56275149:A:G,NC_000011.10:56275149:A:T
                                    Gene:
                                    OR5T1 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    HGVS:
                                    18.

                                    rs1471443432 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      ->A [Show Flanks]
                                      Chromosome:
                                      11:56276032 (GRCh38)
                                      11:56043509 (GRCh37)
                                      Canonical SPDI:
                                      NC_000011.10:56276032:A:AA
                                      Gene:
                                      OR5T1 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,stop_gained
                                      Validated:
                                      by frequency
                                      MAF:
                                      A=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      19.

                                      rs1471110907 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        11:56275752 (GRCh38)
                                        11:56043228 (GRCh37)
                                        Canonical SPDI:
                                        NC_000011.10:56275751:C:T
                                        Gene:
                                        OR5T1 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,synonymous_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000008/2 (GnomAD_exomes)
                                        T=0.000011/3 (TOPMED)
                                        T=0.000014/2 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1471082073 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          11:56275360 (GRCh38)
                                          11:56042836 (GRCh37)
                                          Canonical SPDI:
                                          NC_000011.10:56275359:C:T
                                          Gene:
                                          OR5T1 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0.000108/2 (ALFA)
                                          T=0.000021/3 (GnomAD)
                                          T=0.000446/2 (Estonian)
                                          HGVS:

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