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Items: 1 to 20 of 936

1.

rs1491441097 has merged into rs112704008 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    GTGTGT>-,GT,GTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT [Show Flanks]
    Chromosome:
    12:55220526 (GRCh38)
    12:55614310 (GRCh37)
    Canonical SPDI:
    NC_000012.12:55220510:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000012.12:55220510:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000012.12:55220510:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000012.12:55220510:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000012.12:55220510:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000012.12:55220510:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT
    Gene:
    OR10A7 (Varview)
    Functional Consequence:
    upstream_transcript_variant,2KB_upstream_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TGTGTGTGTGTGTGTGT=0./0 (ALFA)
    TG=0.04667/28 (NorthernSweden)
    TG=0.05/2 (GENOME_DK)
    TG=0.08427/422 (1000Genomes)
    TG=0.09767/21 (Vietnamese)
    HGVS:
    2.

    rs1489866996 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A,T [Show Flanks]
      Chromosome:
      12:55219123 (GRCh38)
      12:55612907 (GRCh37)
      Canonical SPDI:
      NC_000012.12:55219122:G:A,NC_000012.12:55219122:G:T
      Gene:
      OR10A7 (Varview)
      Functional Consequence:
      2KB_upstream_variant,upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0./0 (ALFA)
      T=0.000007/1 (GnomAD)
      HGVS:
      3.

      rs1489055903 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        12:55221480 (GRCh38)
        12:55615264 (GRCh37)
        Canonical SPDI:
        NC_000012.12:55221479:T:C
        Gene:
        OR10A7 (Varview)
        Functional Consequence:
        coding_sequence_variant,synonymous_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0./0 (ALFA)
        C=0.000004/1 (TOPMED)
        C=0.000007/1 (GnomAD)
        HGVS:
        4.

        rs1488668117 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          12:55221375 (GRCh38)
          12:55615159 (GRCh37)
          Canonical SPDI:
          NC_000012.12:55221374:G:A
          Gene:
          OR10A7 (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant
          Validated:
          by frequency,by cluster
          MAF:
          A=0.0003/1 (KOREAN)
          HGVS:
          5.

          rs1487143819 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            12:55220577 (GRCh38)
            12:55614361 (GRCh37)
            Canonical SPDI:
            NC_000012.12:55220576:A:G
            Gene:
            OR10A7 (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:
            6.

            rs1486255574 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A,C [Show Flanks]
              Chromosome:
              12:55221594 (GRCh38)
              12:55615378 (GRCh37)
              Canonical SPDI:
              NC_000012.12:55221593:G:A,NC_000012.12:55221593:G:C
              Gene:
              OR10A7 (Varview)
              Functional Consequence:
              coding_sequence_variant,synonymous_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              C=0.000015/4 (TOPMED)
              HGVS:
              7.

              rs1484465841 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                12:55220599 (GRCh38)
                12:55614383 (GRCh37)
                Canonical SPDI:
                NC_000012.12:55220598:G:A
                Gene:
                OR10A7 (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=0.000156/1 (1000Genomes)
                HGVS:
                8.

                rs1483983213 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>T [Show Flanks]
                  Chromosome:
                  12:55220610 (GRCh38)
                  12:55614394 (GRCh37)
                  Canonical SPDI:
                  NC_000012.12:55220609:A:T
                  Gene:
                  OR10A7 (Varview)
                  Functional Consequence:
                  2KB_upstream_variant,upstream_transcript_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000007/1 (GnomAD)
                  HGVS:
                  9.

                  rs1483281192 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    12:55221777 (GRCh38)
                    12:55615561 (GRCh37)
                    Canonical SPDI:
                    NC_000012.12:55221776:C:T
                    Gene:
                    OR10A7 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,synonymous_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0.000051/1 (ALFA)
                    T=0.000004/1 (TOPMED)
                    T=0.000008/2 (GnomAD_exomes)
                    HGVS:
                    10.

                    rs1482632615 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      12:55221254 (GRCh38)
                      12:55615038 (GRCh37)
                      Canonical SPDI:
                      NC_000012.12:55221253:T:C
                      Gene:
                      OR10A7 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant
                      Validated:
                      by frequency
                      MAF:
                      C=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      11.

                      rs1482564173 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        12:55219555 (GRCh38)
                        12:55613339 (GRCh37)
                        Canonical SPDI:
                        NC_000012.12:55219554:C:T
                        Gene:
                        OR10A7 (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:
                        12.

                        rs1482507768 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          12:55219571 (GRCh38)
                          12:55613355 (GRCh37)
                          Canonical SPDI:
                          NC_000012.12:55219570:T:C
                          Gene:
                          OR10A7 (Varview)
                          Functional Consequence:
                          2KB_upstream_variant,upstream_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000008/2 (TOPMED)
                          HGVS:
                          13.

                          rs1480149861 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            12:55221659 (GRCh38)
                            12:55615443 (GRCh37)
                            Canonical SPDI:
                            NC_000012.12:55221658:G:A
                            Gene:
                            OR10A7 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,missense_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000007/1 (GnomAD)
                            A=0.000008/2 (TOPMED)
                            HGVS:
                            14.

                            rs1479538248 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              12:55221465 (GRCh38)
                              12:55615249 (GRCh37)
                              Canonical SPDI:
                              NC_000012.12:55221464:C:T
                              Gene:
                              OR10A7 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,synonymous_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000008/2 (TOPMED)
                              T=0.000021/3 (GnomAD)
                              HGVS:
                              15.

                              rs1478021338 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>A,C [Show Flanks]
                                Chromosome:
                                12:55222383 (GRCh38)
                                12:55616167 (GRCh37)
                                Canonical SPDI:
                                NC_000012.12:55222382:T:A,NC_000012.12:55222382:T:C
                                Gene:
                                OR10A7 (Varview)
                                Functional Consequence:
                                downstream_transcript_variant,500B_downstream_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                HGVS:
                                16.

                                rs1475487038 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  12:55219229 (GRCh38)
                                  12:55613013 (GRCh37)
                                  Canonical SPDI:
                                  NC_000012.12:55219228:A:G
                                  Gene:
                                  OR10A7 (Varview)
                                  Functional Consequence:
                                  upstream_transcript_variant,2KB_upstream_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000008/2 (TOPMED)
                                  G=0.000021/3 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1474503802 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    12:55219660 (GRCh38)
                                    12:55613444 (GRCh37)
                                    Canonical SPDI:
                                    NC_000012.12:55219659:A:G
                                    Gene:
                                    OR10A7 (Varview)
                                    Functional Consequence:
                                    upstream_transcript_variant,2KB_upstream_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000004/1 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1473933243 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      12:55222239 (GRCh38)
                                      12:55616023 (GRCh37)
                                      Canonical SPDI:
                                      NC_000012.12:55222238:G:A
                                      Gene:
                                      OR10A7 (Varview)
                                      Functional Consequence:
                                      downstream_transcript_variant,500B_downstream_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000008/2 (TOPMED)
                                      A=0.000014/2 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1473910921 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>A,C [Show Flanks]
                                        Chromosome:
                                        12:55220713 (GRCh38)
                                        12:55614497 (GRCh37)
                                        Canonical SPDI:
                                        NC_000012.12:55220712:T:A,NC_000012.12:55220712:T:C
                                        Gene:
                                        OR10A7 (Varview)
                                        Functional Consequence:
                                        upstream_transcript_variant,2KB_upstream_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0./0 (ALFA)
                                        A=0.000007/1 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1473786162 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          12:55221523 (GRCh38)
                                          12:55615307 (GRCh37)
                                          Canonical SPDI:
                                          NC_000012.12:55221522:C:T
                                          Gene:
                                          OR10A7 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,missense_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0.000071/1 (ALFA)
                                          T=0.000004/1 (GnomAD_exomes)
                                          T=0.000008/2 (TOPMED)
                                          T=0.000022/3 (GnomAD)
                                          HGVS:

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