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Items: 1 to 20 of 918

1.

rs1490735292 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    11:6002910 (GRCh38)
    11:6024140 (GRCh37)
    Canonical SPDI:
    NC_000011.10:6002909:T:C
    Gene:
    OR56A4 (Varview), OR56A3 (Varview)
    Functional Consequence:
    coding_sequence_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,missense_variant
    Validated:
    by frequency
    MAF:
    C=0.000004/1 (GnomAD_exomes)
    HGVS:
    2.

    rs1487952128 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G,T [Show Flanks]
      Chromosome:
      11:6005075 (GRCh38)
      11:6026305 (GRCh37)
      Canonical SPDI:
      NC_000011.10:6005074:A:G,NC_000011.10:6005074:A:T
      Gene:
      OR56A4 (Varview), OR56A3 (Varview)
      Functional Consequence:
      genic_downstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      G=0.000026/7 (TOPMED)
      T=0.000035/1 (TOMMO)
      G=0.000064/9 (GnomAD)
      G=0.000312/2 (1000Genomes)
      HGVS:
      3.

      rs1487350722 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        11:6002189 (GRCh38)
        11:6023419 (GRCh37)
        Canonical SPDI:
        NC_000011.10:6002188:C:T
        Gene:
        OR56A4 (Varview), OR56A3 (Varview)
        Functional Consequence:
        coding_sequence_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,synonymous_variant
        HGVS:
        4.

        rs1486739706 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          CA>- [Show Flanks]
          Chromosome:
          11:6003733 (GRCh38)
          11:6024963 (GRCh37)
          Canonical SPDI:
          NC_000011.10:6003729:ACACA:ACA
          Gene:
          OR56A4 (Varview), OR56A3 (Varview)
          Functional Consequence:
          genic_downstream_transcript_variant,genic_upstream_transcript_variant,3_prime_UTR_variant,intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          ACA=0./0 (ALFA)
          -=0.000015/4 (TOPMED)
          HGVS:
          5.

          rs1486687737 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            11:6004837 (GRCh38)
            11:6026067 (GRCh37)
            Canonical SPDI:
            NC_000011.10:6004836:A:G
            Gene:
            OR56A4 (Varview), OR56A3 (Varview)
            Functional Consequence:
            genic_downstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0./0 (ALFA)
            G=0.000007/1 (GnomAD)
            G=0.000008/2 (TOPMED)
            HGVS:
            6.

            rs1486119908 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>G [Show Flanks]
              Chromosome:
              11:6004141 (GRCh38)
              11:6025371 (GRCh37)
              Canonical SPDI:
              NC_000011.10:6004140:C:G
              Gene:
              OR56A4 (Varview), OR56A3 (Varview)
              Functional Consequence:
              genic_downstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              G=0.000071/1 (ALFA)
              G=0.000004/1 (TOPMED)
              HGVS:
              7.

              rs1485368132 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                11:6003066 (GRCh38)
                11:6024296 (GRCh37)
                Canonical SPDI:
                NC_000011.10:6003065:T:C
                Gene:
                OR56A4 (Varview), OR56A3 (Varview)
                Functional Consequence:
                genic_downstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0.000071/1 (ALFA)
                C=0.000008/2 (TOPMED)
                C=0.000014/2 (GnomAD)
                HGVS:
                8.

                rs1484481369 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>A,T [Show Flanks]
                  Chromosome:
                  11:6003601 (GRCh38)
                  11:6024831 (GRCh37)
                  Canonical SPDI:
                  NC_000011.10:6003600:C:A,NC_000011.10:6003600:C:T
                  Gene:
                  OR56A4 (Varview), OR56A3 (Varview)
                  Functional Consequence:
                  genic_downstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  HGVS:
                  9.

                  rs1484150123 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    11:6004017 (GRCh38)
                    11:6025247 (GRCh37)
                    Canonical SPDI:
                    NC_000011.10:6004016:A:G
                    Gene:
                    OR56A4 (Varview), OR56A3 (Varview)
                    Functional Consequence:
                    intron_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000011/3 (TOPMED)
                    G=0.000029/4 (GnomAD)
                    HGVS:
                    10.

                    rs1483584688 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>A,T [Show Flanks]
                      Chromosome:
                      11:6003036 (GRCh38)
                      11:6024266 (GRCh37)
                      Canonical SPDI:
                      NC_000011.10:6003035:C:A,NC_000011.10:6003035:C:T
                      Gene:
                      OR56A4 (Varview), OR56A3 (Varview)
                      Functional Consequence:
                      intron_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000007/1 (GnomAD)
                      T=0.000035/1 (TOMMO)
                      HGVS:
                      11.

                      rs1482845034 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        11:6002655 (GRCh38)
                        11:6023885 (GRCh37)
                        Canonical SPDI:
                        NC_000011.10:6002654:A:G
                        Gene:
                        OR56A4 (Varview), OR56A3 (Varview)
                        Functional Consequence:
                        intron_variant,missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000004/1 (GnomAD_exomes)
                        G=0.000004/1 (TOPMED)
                        G=0.000007/1 (GnomAD)
                        HGVS:
                        12.

                        rs1482516477 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A,T [Show Flanks]
                          Chromosome:
                          11:6004533 (GRCh38)
                          11:6025763 (GRCh37)
                          Canonical SPDI:
                          NC_000011.10:6004532:G:A,NC_000011.10:6004532:G:T
                          Gene:
                          OR56A4 (Varview), OR56A3 (Varview)
                          Functional Consequence:
                          upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0./0 (GnomAD)
                          HGVS:
                          13.

                          rs1482399223 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            11:6002021 (GRCh38)
                            11:6023251 (GRCh37)
                            Canonical SPDI:
                            NC_000011.10:6002020:C:T
                            Gene:
                            OR56A4 (Varview), OR56A3 (Varview)
                            Functional Consequence:
                            intron_variant,genic_upstream_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
                            HGVS:
                            14.

                            rs1482179855 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              11:6004649 (GRCh38)
                              11:6025879 (GRCh37)
                              Canonical SPDI:
                              NC_000011.10:6004648:C:T
                              Gene:
                              OR56A4 (Varview), OR56A3 (Varview)
                              Functional Consequence:
                              upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              T=0./0 (ALFA)
                              HGVS:
                              15.

                              rs1480923150 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                11:6003099 (GRCh38)
                                11:6024329 (GRCh37)
                                Canonical SPDI:
                                NC_000011.10:6003098:C:T
                                Gene:
                                OR56A4 (Varview), OR56A3 (Varview)
                                Functional Consequence:
                                intron_variant,genic_upstream_transcript_variant,genic_downstream_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:
                                16.

                                rs1480872389 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  11:6002501 (GRCh38)
                                  11:6023731 (GRCh37)
                                  Canonical SPDI:
                                  NC_000011.10:6002500:C:T
                                  Gene:
                                  OR56A4 (Varview), OR56A3 (Varview)
                                  Functional Consequence:
                                  intron_variant,missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  T=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  17.

                                  rs1480726063 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>T [Show Flanks]
                                    Chromosome:
                                    11:6002163 (GRCh38)
                                    11:6023393 (GRCh37)
                                    Canonical SPDI:
                                    NC_000011.10:6002162:A:T
                                    Gene:
                                    OR56A4 (Varview), OR56A3 (Varview)
                                    Functional Consequence:
                                    intron_variant,missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
                                    Validated:
                                    by frequency,by cluster
                                    MAF:
                                    T=0.000007/1 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1480576369 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G,T [Show Flanks]
                                      Chromosome:
                                      11:6002631 (GRCh38)
                                      11:6023861 (GRCh37)
                                      Canonical SPDI:
                                      NC_000011.10:6002630:A:G,NC_000011.10:6002630:A:T
                                      Gene:
                                      OR56A4 (Varview), OR56A3 (Varview)
                                      Functional Consequence:
                                      intron_variant,missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,genic_downstream_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:
                                      19.

                                      rs1478169169 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>A,C [Show Flanks]
                                        Chromosome:
                                        11:6002685 (GRCh38)
                                        11:6023915 (GRCh37)
                                        Canonical SPDI:
                                        NC_000011.10:6002684:T:A,NC_000011.10:6002684:T:C
                                        Gene:
                                        OR56A4 (Varview), OR56A3 (Varview)
                                        Functional Consequence:
                                        intron_variant,missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000011/3 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1477159073 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>T [Show Flanks]
                                          Chromosome:
                                          11:6003464 (GRCh38)
                                          11:6024694 (GRCh37)
                                          Canonical SPDI:
                                          NC_000011.10:6003463:G:T
                                          Gene:
                                          OR56A4 (Varview), OR56A3 (Varview)
                                          Functional Consequence:
                                          intron_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000007/1 (GnomAD)
                                          T=0.000015/4 (TOPMED)
                                          T=0.000071/1 (TOMMO)
                                          HGVS:

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