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Links from Gene

Items: 1 to 20 of 1105

1.

rs1490875997 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    11:55811024 (GRCh38)
    11:55578500 (GRCh37)
    Canonical SPDI:
    NC_000011.10:55811023:C:T
    Gene:
    OR5L1 (Varview)
    Functional Consequence:
    2KB_upstream_variant,upstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    T=0.000004/1 (TOPMED)
    T=0.000007/1 (GnomAD)
    HGVS:
    2.

    rs1490721334 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      11:55810983 (GRCh38)
      11:55578459 (GRCh37)
      Canonical SPDI:
      NC_000011.10:55810982:G:A
      Gene:
      OR5L1 (Varview)
      Functional Consequence:
      2KB_upstream_variant,upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0./0 (ALFA)
      A=0.000004/1 (TOPMED)
      A=0.000008/1 (GnomAD)
      HGVS:
      3.

      rs1488125103 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        11:55810118 (GRCh38)
        11:55577594 (GRCh37)
        Canonical SPDI:
        NC_000011.10:55810117:A:G
        Gene:
        OR5L1 (Varview)
        Functional Consequence:
        2KB_upstream_variant,upstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0.000071/1 (ALFA)
        G=0.000004/1 (TOPMED)
        G=0.000014/2 (GnomAD)
        HGVS:
        4.

        rs1487543823 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>G [Show Flanks]
          Chromosome:
          11:55809731 (GRCh38)
          11:55577207 (GRCh37)
          Canonical SPDI:
          NC_000011.10:55809730:C:G
          Gene:
          OR5L1 (Varview)
          Functional Consequence:
          2KB_upstream_variant,upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0.000071/1 (ALFA)
          G=0.000008/2 (TOPMED)
          G=0.000014/2 (GnomAD)
          HGVS:
          5.

          rs1486213468 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            11:55812232 (GRCh38)
            11:55579708 (GRCh37)
            Canonical SPDI:
            NC_000011.10:55812231:C:T
            Gene:
            OR5L1 (Varview)
            Functional Consequence:
            missense_variant,coding_sequence_variant
            Validated:
            by frequency
            MAF:
            T=0.000004/1 (GnomAD_exomes)
            HGVS:
            6.

            rs1485433110 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              11:55810280 (GRCh38)
              11:55577756 (GRCh37)
              Canonical SPDI:
              NC_000011.10:55810279:G:A
              Gene:
              OR5L1 (Varview)
              Functional Consequence:
              2KB_upstream_variant,upstream_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              A=0./0 (ALFA)
              HGVS:
              7.

              rs1485134259 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>C [Show Flanks]
                Chromosome:
                11:55811475 (GRCh38)
                11:55578951 (GRCh37)
                Canonical SPDI:
                NC_000011.10:55811474:G:C
                Gene:
                OR5L1 (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant
                Validated:
                by frequency
                MAF:
                C=0.000008/2 (GnomAD_exomes)
                HGVS:
                8.

                rs1481924671 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  T>- [Show Flanks]
                  Chromosome:
                  11:55812545 (GRCh38)
                  11:55580021 (GRCh37)
                  Canonical SPDI:
                  NC_000011.10:55812544:TT:T
                  Gene:
                  OR5L1 (Varview)
                  Functional Consequence:
                  downstream_transcript_variant,500B_downstream_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  TT=0./0 (ALFA)
                  -=0.000004/1 (TOPMED)
                  -=0.000007/1 (GnomAD)
                  HGVS:
                  9.

                  rs1481114680 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A,T [Show Flanks]
                    Chromosome:
                    11:55811053 (GRCh38)
                    11:55578529 (GRCh37)
                    Canonical SPDI:
                    NC_000011.10:55811052:G:A,NC_000011.10:55811052:G:T
                    Gene:
                    OR5L1 (Varview)
                    Functional Consequence:
                    upstream_transcript_variant,2KB_upstream_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0./0 (GnomAD)
                    T=0.000008/2 (TOPMED)
                    HGVS:
                    10.

                    rs1480988295 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      11:55811264 (GRCh38)
                      11:55578740 (GRCh37)
                      Canonical SPDI:
                      NC_000011.10:55811263:A:G
                      Gene:
                      OR5L1 (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:
                      11.

                      rs1480742557 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        11:55812129 (GRCh38)
                        11:55579605 (GRCh37)
                        Canonical SPDI:
                        NC_000011.10:55812128:T:C
                        Gene:
                        OR5L1 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,synonymous_variant
                        Validated:
                        by frequency
                        MAF:
                        C=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        12.

                        rs1478998202 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>G [Show Flanks]
                          Chromosome:
                          11:55810202 (GRCh38)
                          11:55577678 (GRCh37)
                          Canonical SPDI:
                          NC_000011.10:55810201:T:G
                          Gene:
                          OR5L1 (Varview)
                          Functional Consequence:
                          upstream_transcript_variant,2KB_upstream_variant
                          Validated:
                          by frequency
                          MAF:
                          G=0.000007/1 (GnomAD)
                          HGVS:
                          13.

                          rs1478842372 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>C [Show Flanks]
                            Chromosome:
                            11:55809897 (GRCh38)
                            11:55577373 (GRCh37)
                            Canonical SPDI:
                            NC_000011.10:55809896:A:C
                            Gene:
                            OR5L1 (Varview)
                            Functional Consequence:
                            upstream_transcript_variant,2KB_upstream_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000011/3 (TOPMED)
                            C=0.001369/4 (KOREAN)
                            HGVS:
                            14.

                            rs1477202011 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              11:55809524 (GRCh38)
                              11:55577000 (GRCh37)
                              Canonical SPDI:
                              NC_000011.10:55809523:C:T
                              Gene:
                              OR5L1 (Varview)
                              Functional Consequence:
                              upstream_transcript_variant,2KB_upstream_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000008/2 (TOPMED)
                              T=0.000014/2 (GnomAD)
                              HGVS:
                              15.

                              rs1476294938 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>T [Show Flanks]
                                Chromosome:
                                11:55812245 (GRCh38)
                                11:55579721 (GRCh37)
                                Canonical SPDI:
                                NC_000011.10:55812244:G:T
                                Gene:
                                OR5L1 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000004/1 (TOPMED)
                                T=0.000007/1 (GnomAD)
                                T=0.000008/2 (GnomAD_exomes)
                                HGVS:
                                16.

                                rs1475647995 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  11:55811304 (GRCh38)
                                  11:55578780 (GRCh37)
                                  Canonical SPDI:
                                  NC_000011.10:55811303:C:T
                                  Gene:
                                  OR5L1 (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:
                                  17.

                                  rs1474329966 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    11:55811760 (GRCh38)
                                    11:55579236 (GRCh37)
                                    Canonical SPDI:
                                    NC_000011.10:55811759:G:A
                                    Gene:
                                    OR5L1 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,missense_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    A=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    18.

                                    rs1474148469 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>G [Show Flanks]
                                      Chromosome:
                                      11:55811927 (GRCh38)
                                      11:55579403 (GRCh37)
                                      Canonical SPDI:
                                      NC_000011.10:55811926:T:G
                                      Gene:
                                      OR5L1 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_variant
                                      Validated:
                                      by frequency,by cluster
                                      MAF:
                                      G=0.000008/2 (GnomAD_exomes)
                                      G=0.000546/1 (Korea1K)
                                      HGVS:
                                      19.

                                      rs1474022076 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>G [Show Flanks]
                                        Chromosome:
                                        11:55812968 (GRCh38)
                                        11:55580444 (GRCh37)
                                        Canonical SPDI:
                                        NC_000011.10:55812967:T:G
                                        Gene:
                                        OR5L1 (Varview)
                                        Functional Consequence:
                                        downstream_transcript_variant,500B_downstream_variant
                                        HGVS:
                                        20.

                                        rs1473681667 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>C [Show Flanks]
                                          Chromosome:
                                          11:55809561 (GRCh38)
                                          11:55577037 (GRCh37)
                                          Canonical SPDI:
                                          NC_000011.10:55809560:A:C
                                          Gene:
                                          OR5L1 (Varview)
                                          Functional Consequence:
                                          upstream_transcript_variant,2KB_upstream_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000004/1 (TOPMED)
                                          C=0.000007/1 (GnomAD)
                                          HGVS:

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