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Links from Gene

Items: 1 to 20 of 920

1.

rs1490932607 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    11:58229147 (GRCh38)
    11:57996619 (GRCh37)
    Canonical SPDI:
    NC_000011.10:58229146:T:C
    Gene:
    OR10Q1 (Varview)
    Functional Consequence:
    2KB_upstream_variant,upstream_transcript_variant
    Validated:
    by frequency,by alfa
    MAF:
    C=0.000084/1 (ALFA)
    C=0.000004/1 (TOPMED)
    HGVS:
    2.

    rs1490506522 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      11:58229787 (GRCh38)
      11:57997259 (GRCh37)
      Canonical SPDI:
      NC_000011.10:58229786:A:G
      Gene:
      OR10Q1 (Varview)
      Functional Consequence:
      2KB_upstream_variant,upstream_transcript_variant
      Validated:
      by frequency,by alfa
      MAF:
      G=0./0 (ALFA)
      G=0.000004/1 (TOPMED)
      HGVS:
      3.

      rs1489976872 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>A,T [Show Flanks]
        Chromosome:
        11:58228578 (GRCh38)
        11:57996050 (GRCh37)
        Canonical SPDI:
        NC_000011.10:58228577:C:A,NC_000011.10:58228577:C:T
        Gene:
        OR10Q1 (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant,stop_gained
        Validated:
        by frequency,by alfa
        MAF:
        T=0./0 (ALFA)
        A=0.000004/1 (GnomAD_exomes)
        HGVS:
        4.

        rs1487951202 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          11:58230909 (GRCh38)
          11:57998381 (GRCh37)
          Canonical SPDI:
          NC_000011.10:58230908:A:G
          Gene:
          OR10Q1 (Varview)
          Functional Consequence:
          2KB_upstream_variant,upstream_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          G=0./0 (ALFA)
          HGVS:
          5.

          rs1487812057 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>C [Show Flanks]
            Chromosome:
            11:58228048 (GRCh38)
            11:57995520 (GRCh37)
            Canonical SPDI:
            NC_000011.10:58228047:G:C
            Gene:
            OR10Q1 (Varview)
            Functional Consequence:
            missense_variant,coding_sequence_variant
            Validated:
            by frequency
            MAF:
            C=0.000004/1 (GnomAD_exomes)
            HGVS:
            6.

            rs1487753091 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              11:58228630 (GRCh38)
              11:57996102 (GRCh37)
              Canonical SPDI:
              NC_000011.10:58228629:T:C
              Gene:
              OR10Q1 (Varview)
              Functional Consequence:
              coding_sequence_variant,synonymous_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              C=0.000004/1 (GnomAD_exomes)
              C=0.000004/1 (TOPMED)
              C=0.000007/1 (GnomAD)
              HGVS:
              7.

              rs1487393606 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>C,T [Show Flanks]
                Chromosome:
                11:58228401 (GRCh38)
                11:57995873 (GRCh37)
                Canonical SPDI:
                NC_000011.10:58228400:G:C,NC_000011.10:58228400:G:T
                Gene:
                OR10Q1 (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                C=0.000004/1 (GnomAD_exomes)
                HGVS:
                8.

                rs1486357188 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  11:58230177 (GRCh38)
                  11:57997649 (GRCh37)
                  Canonical SPDI:
                  NC_000011.10:58230176:T:C
                  Gene:
                  OR10Q1 (Varview)
                  Functional Consequence:
                  2KB_upstream_variant,upstream_transcript_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  C=0.00007/1 (ALFA)
                  HGVS:
                  9.

                  rs1483058340 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>A [Show Flanks]
                    Chromosome:
                    11:58228456 (GRCh38)
                    11:57995928 (GRCh37)
                    Canonical SPDI:
                    NC_000011.10:58228455:C:A
                    Gene:
                    OR10Q1 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant
                    HGVS:
                    10.

                    rs1482650852 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>C,G [Show Flanks]
                      Chromosome:
                      11:58227519 (GRCh38)
                      11:57994991 (GRCh37)
                      Canonical SPDI:
                      NC_000011.10:58227518:A:C,NC_000011.10:58227518:A:G
                      Gene:
                      OR10Q1 (Varview)
                      Functional Consequence:
                      downstream_transcript_variant,500B_downstream_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0./0 (ALFA)
                      C=0.000007/1 (GnomAD)
                      HGVS:
                      11.

                      rs1479065622 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        11:58227492 (GRCh38)
                        11:57994964 (GRCh37)
                        Canonical SPDI:
                        NC_000011.10:58227491:A:G
                        Gene:
                        OR10Q1 (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:
                        12.

                        rs1478479381 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>C [Show Flanks]
                          Chromosome:
                          11:58228783 (GRCh38)
                          11:57996255 (GRCh37)
                          Canonical SPDI:
                          NC_000011.10:58228782:G:C
                          Gene:
                          OR10Q1 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,synonymous_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0.000056/2 (ALFA)
                          C=0.000004/1 (GnomAD_exomes)
                          C=0.000014/2 (GnomAD)
                          C=0.000015/4 (TOPMED)
                          HGVS:
                          13.

                          rs1477595878 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>T [Show Flanks]
                            Chromosome:
                            11:58228250 (GRCh38)
                            11:57995722 (GRCh37)
                            Canonical SPDI:
                            NC_000011.10:58228249:A:T
                            Gene:
                            OR10Q1 (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=0.000008/2 (GnomAD_exomes)
                            T=0.000035/1 (TOMMO)
                            HGVS:
                            14.

                            rs1477283313 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              11:58229775 (GRCh38)
                              11:57997247 (GRCh37)
                              Canonical SPDI:
                              NC_000011.10:58229774:T:C
                              Gene:
                              OR10Q1 (Varview)
                              Functional Consequence:
                              upstream_transcript_variant,2KB_upstream_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000004/1 (TOPMED)
                              HGVS:
                              15.

                              rs1477221343 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                11:58229329 (GRCh38)
                                11:57996801 (GRCh37)
                                Canonical SPDI:
                                NC_000011.10:58229328:G:A
                                Gene:
                                OR10Q1 (Varview)
                                Functional Consequence:
                                upstream_transcript_variant,2KB_upstream_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000004/1 (TOPMED)
                                A=0.000014/2 (GnomAD)
                                HGVS:
                                16.

                                rs1476977356 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>C,T [Show Flanks]
                                  Chromosome:
                                  11:58228353 (GRCh38)
                                  11:57995825 (GRCh37)
                                  Canonical SPDI:
                                  NC_000011.10:58228352:G:C,NC_000011.10:58228352:G:T
                                  Gene:
                                  OR10Q1 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,missense_variant
                                  Validated:
                                  by frequency,by cluster
                                  MAF:
                                  T=0.00014/2 (TOMMO)
                                  HGVS:
                                  17.

                                  rs1473316287 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    CA>- [Show Flanks]
                                    Chromosome:
                                    11:58227877 (GRCh38)
                                    11:57995349 (GRCh37)
                                    Canonical SPDI:
                                    NC_000011.10:58227873:ACACA:ACA
                                    Gene:
                                    OR10Q1 (Varview)
                                    Functional Consequence:
                                    downstream_transcript_variant,500B_downstream_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    ACA=0./0 (ALFA)
                                    -=0.000008/2 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1471598586 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      TCA>- [Show Flanks]
                                      Chromosome:
                                      11:58230901 (GRCh38)
                                      11:57998373 (GRCh37)
                                      Canonical SPDI:
                                      NC_000011.10:58230896:ATCATCA:ATCA
                                      Gene:
                                      OR10Q1 (Varview)
                                      Functional Consequence:
                                      upstream_transcript_variant,2KB_upstream_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      ATCA=0./0 (ALFA)
                                      -=0.000004/1 (TOPMED)
                                      -=0.000007/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1469893035 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        11:58228301 (GRCh38)
                                        11:57995773 (GRCh37)
                                        Canonical SPDI:
                                        NC_000011.10:58228300:A:G
                                        Gene:
                                        OR10Q1 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,missense_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0.000071/1 (ALFA)
                                        G=0.000014/2 (GnomAD)
                                        G=0.000015/4 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1468280301 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          11:58228695 (GRCh38)
                                          11:57996167 (GRCh37)
                                          Canonical SPDI:
                                          NC_000011.10:58228694:T:C
                                          Gene:
                                          OR10Q1 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,missense_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000004/1 (TOPMED)
                                          HGVS:

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