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Links from Nucleotide

Items: 1 to 20 of 324

1.

rs1484224877 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    12:55400880 (GRCh38)
    12:55794664 (GRCh37)
    Canonical SPDI:
    NC_000012.12:55400879:T:C
    Gene:
    OR6C65 (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant
    Validated:
    by frequency
    MAF:
    C=0.000004/1 (GnomAD_exomes)
    HGVS:
    2.

    rs1479647411 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>A [Show Flanks]
      Chromosome:
      12:55400727 (GRCh38)
      12:55794511 (GRCh37)
      Canonical SPDI:
      NC_000012.12:55400726:T:A
      Gene:
      OR6C65 (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0./0 (ALFA)
      A=0.000004/1 (GnomAD_exomes)
      A=0.000004/1 (TOPMED)
      A=0.000007/1 (GnomAD)
      HGVS:
      3.

      rs1478385238 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>T [Show Flanks]
        Chromosome:
        12:55400535 (GRCh38)
        12:55794319 (GRCh37)
        Canonical SPDI:
        NC_000012.12:55400534:A:T
        Gene:
        OR6C65 (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant
        Validated:
        by frequency,by alfa
        MAF:
        T=0./0 (ALFA)
        T=0.000004/1 (TOPMED)
        HGVS:
        4.

        rs1474484322 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          12:55400739 (GRCh38)
          12:55794523 (GRCh37)
          Canonical SPDI:
          NC_000012.12:55400738:T:C
          Gene:
          OR6C65 (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0./0 (ALFA)
          C=0.000004/1 (TOPMED)
          C=0.000007/1 (GnomAD)
          HGVS:
          5.

          rs1470554732 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            12:55400574 (GRCh38)
            12:55794358 (GRCh37)
            Canonical SPDI:
            NC_000012.12:55400573:A:G
            Gene:
            OR6C65 (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0./0 (ALFA)
            G=0.000004/1 (TOPMED)
            HGVS:
            6.

            rs1468973507 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>A,C [Show Flanks]
              Chromosome:
              12:55401057 (GRCh38)
              12:55794841 (GRCh37)
              Canonical SPDI:
              NC_000012.12:55401056:T:A,NC_000012.12:55401056:T:C
              Gene:
              OR6C65 (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0.000028/1 (ALFA)
              A=0.000004/1 (GnomAD_exomes)
              C=0.000007/1 (GnomAD)
              C=0.000008/2 (TOPMED)
              HGVS:
              7.

              rs1467225638 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C,G [Show Flanks]
                Chromosome:
                12:55400724 (GRCh38)
                12:55794508 (GRCh37)
                Canonical SPDI:
                NC_000012.12:55400723:T:C,NC_000012.12:55400723:T:G
                Gene:
                OR6C65 (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                G=0.000004/1 (TOPMED)
                C=0.000531/9 (TOMMO)
                HGVS:
                8.

                rs1466421340 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  12:55400982 (GRCh38)
                  12:55794766 (GRCh37)
                  Canonical SPDI:
                  NC_000012.12:55400981:C:T
                  Gene:
                  OR6C65 (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)
                  HGVS:
                  9.

                  rs1450563308 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>T [Show Flanks]
                    Chromosome:
                    12:55401312 (GRCh38)
                    12:55795096 (GRCh37)
                    Canonical SPDI:
                    NC_000012.12:55401311:G:T
                    Gene:
                    OR6C65 (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)
                    HGVS:
                    10.

                    rs1445974322 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>A [Show Flanks]
                      Chromosome:
                      12:55400702 (GRCh38)
                      12:55794486 (GRCh37)
                      Canonical SPDI:
                      NC_000012.12:55400701:T:A
                      Gene:
                      OR6C65 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,stop_gained
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000004/1 (GnomAD_exomes)
                      A=0.000007/1 (GnomAD)
                      A=0.000011/3 (TOPMED)
                      HGVS:
                      11.

                      rs1444558962 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>C [Show Flanks]
                        Chromosome:
                        12:55401430 (GRCh38)
                        12:55795214 (GRCh37)
                        Canonical SPDI:
                        NC_000012.12:55401429:A:C
                        Gene:
                        OR6C65 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000007/1 (GnomAD)
                        HGVS:
                        12.

                        rs1443731964 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>G,T [Show Flanks]
                          Chromosome:
                          12:55400623 (GRCh38)
                          12:55794407 (GRCh37)
                          Canonical SPDI:
                          NC_000012.12:55400622:C:G,NC_000012.12:55400622:C:T
                          Gene:
                          OR6C65 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          13.

                          rs1438787292 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>A,G [Show Flanks]
                            Chromosome:
                            12:55400970 (GRCh38)
                            12:55794754 (GRCh37)
                            Canonical SPDI:
                            NC_000012.12:55400969:C:A,NC_000012.12:55400969:C:G
                            Gene:
                            OR6C65 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,missense_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0./0 (ALFA)
                            A=0.000004/1 (TOPMED)
                            A=0.000007/1 (GnomAD)
                            HGVS:
                            14.

                            rs1438667921 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              ->T [Show Flanks]
                              Chromosome:
                              12:55400855 (GRCh38)
                              12:55794640 (GRCh37)
                              Canonical SPDI:
                              NC_000012.12:55400855:TTTTTT:TTTTTTT
                              Gene:
                              OR6C65 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,frameshift_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              TTTTTTT=0./0 (ALFA)
                              T=0.000015/4 (TOPMED)
                              T=0.000029/4 (GnomAD)
                              HGVS:
                              15.

                              rs1436805471 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                12:55400667 (GRCh38)
                                12:55794451 (GRCh37)
                                Canonical SPDI:
                                NC_000012.12:55400666:A:G
                                Gene:
                                OR6C65 (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000011/3 (TOPMED)
                                G=0.000021/3 (GnomAD)
                                HGVS:
                                16.

                                rs1431634440 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>A [Show Flanks]
                                  Chromosome:
                                  12:55401436 (GRCh38)
                                  12:55795220 (GRCh37)
                                  Canonical SPDI:
                                  NC_000012.12:55401435:C:A
                                  Gene:
                                  OR6C65 (Varview)
                                  Functional Consequence:
                                  missense_variant,coding_sequence_variant
                                  HGVS:
                                  17.

                                  rs1430239896 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    12:55400974 (GRCh38)
                                    12:55794758 (GRCh37)
                                    Canonical SPDI:
                                    NC_000012.12:55400973:C:T
                                    Gene:
                                    OR6C65 (Varview)
                                    Functional Consequence:
                                    missense_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000008/2 (GnomAD_exomes)
                                    HGVS:
                                    18.

                                    rs1427122494 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>C [Show Flanks]
                                      Chromosome:
                                      12:55401179 (GRCh38)
                                      12:55794963 (GRCh37)
                                      Canonical SPDI:
                                      NC_000012.12:55401178:A:C
                                      Gene:
                                      OR6C65 (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)
                                      C=0.000008/2 (GnomAD_exomes)
                                      HGVS:
                                      19.

                                      rs1423657159 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>G [Show Flanks]
                                        Chromosome:
                                        12:55400746 (GRCh38)
                                        12:55794530 (GRCh37)
                                        Canonical SPDI:
                                        NC_000012.12:55400745:C:G
                                        Gene:
                                        OR6C65 (Varview)
                                        Functional Consequence:
                                        missense_variant,coding_sequence_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:
                                        20.

                                        rs1418927605 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          12:55400636 (GRCh38)
                                          12:55794420 (GRCh37)
                                          Canonical SPDI:
                                          NC_000012.12:55400635:T:C
                                          Gene:
                                          OR6C65 (Varview)
                                          Functional Consequence:
                                          synonymous_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0.000071/1 (ALFA)
                                          C=0.000007/1 (GnomAD)
                                          C=0.000008/2 (TOPMED)
                                          HGVS:

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