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Links from Protein

Items: 1 to 20 of 331

1.

rs1479571619 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    CT>- [Show Flanks]
    Chromosome:
    17:3126856 (GRCh38)
    17:3030150 (GRCh37)
    Canonical SPDI:
    NC_000017.11:3126855:CT:
    Gene:
    OR1G1 (Varview)
    Functional Consequence:
    frameshift_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    -=0./0 (ALFA)
    -=0.000007/1 (GnomAD)
    -=0.000011/3 (TOPMED)
    HGVS:
    2.

    rs1475268879 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C,G [Show Flanks]
      Chromosome:
      17:3126984 (GRCh38)
      17:3030278 (GRCh37)
      Canonical SPDI:
      NC_000017.11:3126983:T:C,NC_000017.11:3126983:T:G
      Gene:
      OR1G1 (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0./0 (ALFA)
      G=0.000004/1 (GnomAD_exomes)
      G=0.000004/1 (TOPMED)
      HGVS:
      3.

      rs1473736808 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        17:3126989 (GRCh38)
        17:3030283 (GRCh37)
        Canonical SPDI:
        NC_000017.11:3126988:G:A
        Gene:
        OR1G1 (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant
        Validated:
        by frequency
        MAF:
        A=0.000004/1 (GnomAD_exomes)
        HGVS:
        4.

        rs1472262887 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          17:3127284 (GRCh38)
          17:3030578 (GRCh37)
          Canonical SPDI:
          NC_000017.11:3127283:G:A
          Gene:
          OR1G1 (Varview)
          Functional Consequence:
          stop_gained,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0.000071/1 (ALFA)
          A=0.000004/1 (GnomAD_exomes)
          A=0.000004/1 (TOPMED)
          A=0.000007/1 (GnomAD)
          HGVS:
          5.

          rs1467238870 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            17:3126699 (GRCh38)
            17:3029993 (GRCh37)
            Canonical SPDI:
            NC_000017.11:3126698:A:G
            Gene:
            OR1G1 (Varview)
            Functional Consequence:
            synonymous_variant,coding_sequence_variant
            Validated:
            by frequency
            MAF:
            G=0.000004/1 (GnomAD_exomes)
            HGVS:
            6.

            rs1463116904 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              17:3127098 (GRCh38)
              17:3030392 (GRCh37)
              Canonical SPDI:
              NC_000017.11:3127097:T:C
              Gene:
              OR1G1 (Varview)
              Functional Consequence:
              missense_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              C=0.000007/1 (GnomAD)
              HGVS:
              7.

              rs1457822613 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A,T [Show Flanks]
                Chromosome:
                17:3127357 (GRCh38)
                17:3030651 (GRCh37)
                Canonical SPDI:
                NC_000017.11:3127356:G:A,NC_000017.11:3127356:G:T
                Gene:
                OR1G1 (Varview)
                Functional Consequence:
                synonymous_variant,missense_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                T=0.000004/1 (TOPMED)
                A=0.000007/1 (GnomAD)
                HGVS:
                8.

                rs1453970940 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  17:3127289 (GRCh38)
                  17:3030583 (GRCh37)
                  Canonical SPDI:
                  NC_000017.11:3127288:T:C
                  Gene:
                  OR1G1 (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000004/1 (GnomAD_exomes)
                  C=0.000007/1 (GnomAD)
                  C=0.000008/2 (TOPMED)
                  HGVS:
                  9.

                  rs1453363253 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    17:3126883 (GRCh38)
                    17:3030177 (GRCh37)
                    Canonical SPDI:
                    NC_000017.11:3126882:C:T
                    Gene:
                    OR1G1 (Varview)
                    Functional Consequence:
                    synonymous_variant,coding_sequence_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.

                    rs1450166681 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>T [Show Flanks]
                      Chromosome:
                      17:3127127 (GRCh38)
                      17:3030421 (GRCh37)
                      Canonical SPDI:
                      NC_000017.11:3127126:A:T
                      Gene:
                      OR1G1 (Varview)
                      Functional Consequence:
                      missense_variant,coding_sequence_variant
                      Validated:
                      by frequency
                      MAF:
                      T=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      11.

                      rs1443768610 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>T [Show Flanks]
                        Chromosome:
                        17:3127141 (GRCh38)
                        17:3030435 (GRCh37)
                        Canonical SPDI:
                        NC_000017.11:3127140:G:T
                        Gene:
                        OR1G1 (Varview)
                        Functional Consequence:
                        missense_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000004/1 (TOPMED)
                        HGVS:
                        12.

                        rs1442373603 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>G [Show Flanks]
                          Chromosome:
                          17:3126856 (GRCh38)
                          17:3030150 (GRCh37)
                          Canonical SPDI:
                          NC_000017.11:3126855:C:G
                          Gene:
                          OR1G1 (Varview)
                          Functional Consequence:
                          missense_variant,coding_sequence_variant
                          Validated:
                          by frequency
                          MAF:
                          G=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          13.

                          rs1441475768 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>C [Show Flanks]
                            Chromosome:
                            17:3126970 (GRCh38)
                            17:3030264 (GRCh37)
                            Canonical SPDI:
                            NC_000017.11:3126969:G:C
                            Gene:
                            OR1G1 (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:
                            14.

                            rs1437504316 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>C,T [Show Flanks]
                              Chromosome:
                              17:3126864 (GRCh38)
                              17:3030158 (GRCh37)
                              Canonical SPDI:
                              NC_000017.11:3126863:A:C,NC_000017.11:3126863:A:T
                              Gene:
                              OR1G1 (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)
                              C=0.000004/1 (TOPMED)
                              T=0.000007/1 (GnomAD)
                              HGVS:
                              15.

                              rs1434717839 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                17:3126770 (GRCh38)
                                17:3030064 (GRCh37)
                                Canonical SPDI:
                                NC_000017.11:3126769:C:T
                                Gene:
                                OR1G1 (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant
                                Validated:
                                by frequency
                                MAF:
                                T=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                16.

                                rs1434527627 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  GA>- [Show Flanks]
                                  Chromosome:
                                  17:3126808 (GRCh38)
                                  17:3030102 (GRCh37)
                                  Canonical SPDI:
                                  NC_000017.11:3126800:AGAGAGAGA:AGAGAGA
                                  Gene:
                                  OR1G1 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,frameshift_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  AGAGAGA=0.000071/1 (ALFA)
                                  -=0.000014/2 (GnomAD)
                                  -=0.000015/4 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1431274151 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>A [Show Flanks]
                                    Chromosome:
                                    17:3126663 (GRCh38)
                                    17:3029957 (GRCh37)
                                    Canonical SPDI:
                                    NC_000017.11:3126662:T:A
                                    Gene:
                                    OR1G1 (Varview)
                                    Functional Consequence:
                                    missense_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000004/1 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1427189401 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>A [Show Flanks]
                                      Chromosome:
                                      17:3126777 (GRCh38)
                                      17:3030071 (GRCh37)
                                      Canonical SPDI:
                                      NC_000017.11:3126776:C:A
                                      Gene:
                                      OR1G1 (Varview)
                                      Functional Consequence:
                                      missense_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000004/1 (TOPMED)
                                      A=0.000012/3 (GnomAD_exomes)
                                      HGVS:
                                      19.

                                      rs1419481787 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>A [Show Flanks]
                                        Chromosome:
                                        17:3127341 (GRCh38)
                                        17:3030635 (GRCh37)
                                        Canonical SPDI:
                                        NC_000017.11:3127340:C:A
                                        Gene:
                                        OR1G1 (Varview)
                                        Functional Consequence:
                                        missense_variant,coding_sequence_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        A=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        20.

                                        rs1416107753 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          17:3127299 (GRCh38)
                                          17:3030593 (GRCh37)
                                          Canonical SPDI:
                                          NC_000017.11:3127298:T:C
                                          Gene:
                                          OR1G1 (Varview)
                                          Functional Consequence:
                                          missense_variant,coding_sequence_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          C=0.000004/1 (GnomAD_exomes)
                                          HGVS:

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