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Links from Gene

Items: 1 to 20 of 882

1.

rs1490267676 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>C [Show Flanks]
    Chromosome:
    11:58359559 (GRCh38)
    11:58127032 (GRCh37)
    Canonical SPDI:
    NC_000011.10:58359558:G:C
    Gene:
    OR5B17 (Varview)
    Functional Consequence:
    2KB_upstream_variant,upstream_transcript_variant
    Validated:
    by frequency,by alfa
    MAF:
    C=0./0 (ALFA)
    C=0.000004/1 (TOPMED)
    HGVS:
    2.

    rs1488911296 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      11:58358489 (GRCh38)
      11:58125962 (GRCh37)
      Canonical SPDI:
      NC_000011.10:58358488:T:C
      Gene:
      OR5B17 (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0.000224/1 (ALFA)
      C=0.000007/1 (GnomAD)
      C=0.000223/1 (Estonian)
      HGVS:
      3.

      rs1488140742 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>G [Show Flanks]
        Chromosome:
        11:58360002 (GRCh38)
        11:58127475 (GRCh37)
        Canonical SPDI:
        NC_000011.10:58360001:T:G
        Gene:
        OR5B17 (Varview)
        Functional Consequence:
        2KB_upstream_variant,upstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0./0 (ALFA)
        G=0.000008/2 (TOPMED)
        G=0.000014/2 (GnomAD)
        HGVS:
        4.

        rs1487454841 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>A [Show Flanks]
          Chromosome:
          11:58360660 (GRCh38)
          11:58128133 (GRCh37)
          Canonical SPDI:
          NC_000011.10:58360659:C:A
          Gene:
          OR5B17 (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=0.000007/1 (GnomAD)
          HGVS:
          5.

          rs1487159585 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            11:58359372 (GRCh38)
            11:58126845 (GRCh37)
            Canonical SPDI:
            NC_000011.10:58359371:G:A
            Gene:
            OR5B17 (Varview)
            Functional Consequence:
            2KB_upstream_variant,upstream_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            A=0./0 (ALFA)
            A=0.000004/1 (TOPMED)
            HGVS:
            6.

            rs1486699003 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              11:58360471 (GRCh38)
              11:58127944 (GRCh37)
              Canonical SPDI:
              NC_000011.10:58360470:C:T
              Gene:
              OR5B17 (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=0.000035/1 (TOMMO)
              HGVS:
              7.

              rs1483463634 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>A,T [Show Flanks]
                Chromosome:
                11:58360361 (GRCh38)
                11:58127834 (GRCh37)
                Canonical SPDI:
                NC_000011.10:58360360:C:A,NC_000011.10:58360360:C:T
                Gene:
                OR5B17 (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)
                A=0.000342/1 (KOREAN)
                HGVS:
                8.

                rs1483161072 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>A,T [Show Flanks]
                  Chromosome:
                  11:58358439 (GRCh38)
                  11:58125912 (GRCh37)
                  Canonical SPDI:
                  NC_000011.10:58358438:C:A,NC_000011.10:58358438:C:T
                  Gene:
                  OR5B17 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  HGVS:
                  9.

                  rs1483100665 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    11:58358374 (GRCh38)
                    11:58125847 (GRCh37)
                    Canonical SPDI:
                    NC_000011.10:58358373:G:A
                    Gene:
                    OR5B17 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,synonymous_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000004/1 (GnomAD_exomes)
                    A=0.000007/1 (GnomAD)
                    HGVS:
                    10.

                    rs1482745222 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      11:58358721 (GRCh38)
                      11:58126194 (GRCh37)
                      Canonical SPDI:
                      NC_000011.10:58358720:C:T
                      Gene:
                      OR5B17 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant
                      Validated:
                      by frequency
                      MAF:
                      T=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      11.

                      rs1480938083 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        TT>- [Show Flanks]
                        Chromosome:
                        11:58360244 (GRCh38)
                        11:58127717 (GRCh37)
                        Canonical SPDI:
                        NC_000011.10:58360241:TTTT:TT
                        Gene:
                        OR5B17 (Varview)
                        Functional Consequence:
                        upstream_transcript_variant,2KB_upstream_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        TTTT=0.000071/1 (ALFA)
                        -=0.000007/1 (GnomAD)
                        HGVS:
                        12.

                        rs1478678200 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          11:58358041 (GRCh38)
                          11:58125514 (GRCh37)
                          Canonical SPDI:
                          NC_000011.10:58358040:A:G
                          Gene:
                          OR5B17 (Varview)
                          Functional Consequence:
                          downstream_transcript_variant,500B_downstream_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000008/2 (TOPMED)
                          G=0.000014/2 (GnomAD)
                          HGVS:
                          13.

                          rs1477862435 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            11:58360837 (GRCh38)
                            11:58128310 (GRCh37)
                            Canonical SPDI:
                            NC_000011.10:58360836:T:C
                            Gene:
                            OR5B17 (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:
                            14.

                            rs1477705755 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              11:58360103 (GRCh38)
                              11:58127576 (GRCh37)
                              Canonical SPDI:
                              NC_000011.10:58360102:A:G
                              Gene:
                              OR5B17 (Varview)
                              Functional Consequence:
                              upstream_transcript_variant,2KB_upstream_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000007/1 (GnomAD)
                              G=0.000008/2 (TOPMED)
                              G=0.000071/2 (TOMMO)
                              HGVS:
                              15.

                              rs1476707617 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                11:58358178 (GRCh38)
                                11:58125651 (GRCh37)
                                Canonical SPDI:
                                NC_000011.10:58358177:C:T
                                Gene:
                                OR5B17 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant
                                Validated:
                                by frequency,by cluster
                                MAF:
                                T=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                16.

                                rs1476568802 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  11:58359248 (GRCh38)
                                  11:58126721 (GRCh37)
                                  Canonical SPDI:
                                  NC_000011.10:58359247:G:A
                                  Gene:
                                  OR5B17 (Varview)
                                  Functional Consequence:
                                  upstream_transcript_variant,2KB_upstream_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000007/1 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1476128665 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    11:58358468 (GRCh38)
                                    11:58125941 (GRCh37)
                                    Canonical SPDI:
                                    NC_000011.10:58358467:G:A
                                    Gene:
                                    OR5B17 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,missense_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    A=0.000028/1 (ALFA)
                                    A=0.000004/1 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1475639309 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      G>- [Show Flanks]
                                      Chromosome:
                                      11:58359626 (GRCh38)
                                      11:58127099 (GRCh37)
                                      Canonical SPDI:
                                      NC_000011.10:58359625:GGG:GG
                                      Gene:
                                      OR5B17 (Varview)
                                      Functional Consequence:
                                      upstream_transcript_variant,2KB_upstream_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      GG=0.000071/1 (ALFA)
                                      -=0.000004/1 (TOPMED)
                                      -=0.000007/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1473635827 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        11:58357771 (GRCh38)
                                        11:58125244 (GRCh37)
                                        Canonical SPDI:
                                        NC_000011.10:58357770:C:T
                                        Gene:
                                        OR5B17 (Varview)
                                        Functional Consequence:
                                        downstream_transcript_variant,500B_downstream_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        T=0.000071/1 (ALFA)
                                        T=0.000008/2 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1472815914 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          11:58357627 (GRCh38)
                                          11:58125100 (GRCh37)
                                          Canonical SPDI:
                                          NC_000011.10:58357626:C:T
                                          Gene:
                                          OR5B17 (Varview)
                                          Functional Consequence:
                                          downstream_transcript_variant,500B_downstream_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000007/1 (GnomAD)
                                          T=0.000008/2 (TOPMED)
                                          HGVS:

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