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Links from Gene

Items: 1 to 20 of 1090

1.

rs1490895690 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    11:4488292 (GRCh38)
    11:4509522 (GRCh37)
    Canonical SPDI:
    NC_000011.10:4488291:T:C
    Gene:
    OR52K1 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0.000071/1 (ALFA)
    C=0.000015/4 (TOPMED)
    C=0.000043/6 (GnomAD)
    HGVS:
    2.

    rs1490576528 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      11:4489715 (GRCh38)
      11:4510945 (GRCh37)
      Canonical SPDI:
      NC_000011.10:4489714:C:T
      Gene:
      OR52K1 (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant
      Validated:
      by frequency
      MAF:
      T=0.000004/1 (GnomAD_exomes)
      HGVS:
      3.

      rs1490401643 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        11:4487368 (GRCh38)
        11:4508598 (GRCh37)
        Canonical SPDI:
        NC_000011.10:4487367:T:C
        Gene:
        OR52K1 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0./0 (ALFA)
        C=0.000023/6 (TOPMED)
        C=0.000043/6 (GnomAD)
        HGVS:
        4.

        rs1490266920 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          11:4490261 (GRCh38)
          11:4511491 (GRCh37)
          Canonical SPDI:
          NC_000011.10:4490260:A:G
          Gene:
          OR52K1 (Varview)
          Functional Consequence:
          3_prime_UTR_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0.000071/1 (ALFA)
          G=0.000014/2 (GnomAD)
          G=0.000023/6 (TOPMED)
          HGVS:
          5.

          rs1489573418 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A,C [Show Flanks]
            Chromosome:
            11:4486939 (GRCh38)
            11:4508169 (GRCh37)
            Canonical SPDI:
            NC_000011.10:4486938:G:A,NC_000011.10:4486938:G:C
            Gene:
            OR52K1 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0./0 (ALFA)
            HGVS:
            6.

            rs1489434198 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>T [Show Flanks]
              Chromosome:
              11:4488248 (GRCh38)
              11:4509478 (GRCh37)
              Canonical SPDI:
              NC_000011.10:4488247:G:T
              Gene:
              OR52K1 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0.000004/1 (TOPMED)
              T=0.000007/1 (GnomAD)
              HGVS:
              7.

              rs1489399365 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>T [Show Flanks]
                Chromosome:
                11:4488765 (GRCh38)
                11:4509995 (GRCh37)
                Canonical SPDI:
                NC_000011.10:4488764:A:T
                Gene:
                OR52K1 (Varview)
                Functional Consequence:
                5_prime_UTR_variant,intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                T=0.000004/1 (TOPMED)
                T=0.000007/1 (GnomAD)
                HGVS:
                8.

                rs1488733636 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>C [Show Flanks]
                  Chromosome:
                  11:4489999 (GRCh38)
                  11:4511229 (GRCh37)
                  Canonical SPDI:
                  NC_000011.10:4489998:A:C
                  Gene:
                  OR52K1 (Varview)
                  Functional Consequence:
                  3_prime_UTR_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  C=0.0002/1 (ALFA)
                  C=0.0002/1 (Estonian)
                  HGVS:
                  9.

                  rs1488346752 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    11:4489410 (GRCh38)
                    11:4510640 (GRCh37)
                    Canonical SPDI:
                    NC_000011.10:4489409:C:T
                    Gene:
                    OR52K1 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,synonymous_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.

                    rs1488107928 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      ->C [Show Flanks]
                      Chromosome:
                      11:4490270 (GRCh38)
                      11:4511501 (GRCh37)
                      Canonical SPDI:
                      NC_000011.10:4490270:CCCCC:CCCCCC
                      Gene:
                      OR52K1 (Varview)
                      Functional Consequence:
                      3_prime_UTR_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      CCCCCC=0./0 (ALFA)
                      C=0.000015/4 (TOPMED)
                      C=0.000021/3 (GnomAD)
                      HGVS:
                      11.

                      rs1486848132 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        11:4490366 (GRCh38)
                        11:4511596 (GRCh37)
                        Canonical SPDI:
                        NC_000011.10:4490365:T:C
                        Gene:
                        OR52K1 (Varview)
                        Functional Consequence:
                        3_prime_UTR_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000004/1 (TOPMED)
                        C=0.000007/1 (GnomAD)
                        HGVS:
                        12.

                        rs1486233626 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>G,T [Show Flanks]
                          Chromosome:
                          11:4487020 (GRCh38)
                          11:4508250 (GRCh37)
                          Canonical SPDI:
                          NC_000011.10:4487019:C:G,NC_000011.10:4487019:C:T
                          Gene:
                          OR52K1 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000008/1 (GnomAD)
                          T=0.000011/3 (TOPMED)
                          HGVS:
                          13.

                          rs1486168840 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            11:4487311 (GRCh38)
                            11:4508541 (GRCh37)
                            Canonical SPDI:
                            NC_000011.10:4487310:G:A
                            Gene:
                            OR52K1 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000004/1 (TOPMED)
                            A=0.000007/1 (GnomAD)
                            HGVS:
                            14.

                            rs1485967523 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              11:4489962 (GRCh38)
                              11:4511192 (GRCh37)
                              Canonical SPDI:
                              NC_000011.10:4489961:A:G
                              Gene:
                              OR52K1 (Varview)
                              Functional Consequence:
                              3_prime_UTR_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000004/1 (TOPMED)
                              G=0.000007/1 (GnomAD)
                              HGVS:
                              15.

                              rs1485220753 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                11:4487335 (GRCh38)
                                11:4508565 (GRCh37)
                                Canonical SPDI:
                                NC_000011.10:4487334:A:G
                                Gene:
                                OR52K1 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000004/1 (TOPMED)
                                HGVS:
                                16.

                                rs1483573776 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  11:4489510 (GRCh38)
                                  11:4510740 (GRCh37)
                                  Canonical SPDI:
                                  NC_000011.10:4489509:G:A
                                  Gene:
                                  OR52K1 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,missense_variant
                                  Validated:
                                  by frequency,by cluster
                                  MAF:
                                  A=0.000004/1 (GnomAD_exomes)
                                  A=0.000007/1 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1483165460 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    11:4489570 (GRCh38)
                                    11:4510800 (GRCh37)
                                    Canonical SPDI:
                                    NC_000011.10:4489569:C:T
                                    Gene:
                                    OR52K1 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,missense_variant
                                    HGVS:
                                    18.

                                    rs1482732512 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>A [Show Flanks]
                                      Chromosome:
                                      11:4488358 (GRCh38)
                                      11:4509588 (GRCh37)
                                      Canonical SPDI:
                                      NC_000011.10:4488357:T:A
                                      Gene:
                                      OR52K1 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000007/1 (GnomAD)
                                      A=0.000015/4 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1482703945 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        11:4489237 (GRCh38)
                                        11:4510467 (GRCh37)
                                        Canonical SPDI:
                                        NC_000011.10:4489236:G:A
                                        Gene:
                                        OR52K1 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,missense_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000008/2 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1481300528 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          11:4487634 (GRCh38)
                                          11:4508864 (GRCh37)
                                          Canonical SPDI:
                                          NC_000011.10:4487633:T:C
                                          Gene:
                                          OR52K1 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000007/1 (GnomAD)
                                          HGVS:

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