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Links from Gene

Items: 1 to 20 of 1308

1.

rs1490042882 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    3:98263925 (GRCh38)
    3:97982769 (GRCh37)
    Canonical SPDI:
    NC_000003.12:98263924:T:C
    Gene:
    OR5H6 (Varview), LOC105373999 (Varview)
    Functional Consequence:
    intron_variant,upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0./0 (ALFA)
    C=0.000021/3 (GnomAD)
    C=0.00003/8 (TOPMED)
    HGVS:
    2.

    rs1489533842 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      ->T [Show Flanks]
      Chromosome:
      3:98263431 (GRCh38)
      3:97982276 (GRCh37)
      Canonical SPDI:
      NC_000003.12:98263431:TTT:TTTT
      Gene:
      OR5H6 (Varview), LOC105373999 (Varview)
      Functional Consequence:
      intron_variant,upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      TTTT=0./0 (ALFA)
      T=0.000015/4 (TOPMED)
      T=0.000029/4 (GnomAD)
      HGVS:
      3.

      rs1488226775 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>A,C [Show Flanks]
        Chromosome:
        3:98261730 (GRCh38)
        3:97980574 (GRCh37)
        Canonical SPDI:
        NC_000003.12:98261729:T:A,NC_000003.12:98261729:T:C
        Validated:
        by frequency,by alfa
        MAF:
        C=0./0 (ALFA)
        C=0.000008/2 (TOPMED)
        C=0.000015/2 (GnomAD)
        HGVS:
        4.

        rs1488118489 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>C [Show Flanks]
          Chromosome:
          3:98262058 (GRCh38)
          3:97980902 (GRCh37)
          Canonical SPDI:
          NC_000003.12:98262057:A:C
          Validated:
          by frequency,by alfa
          MAF:
          C=0./0 (ALFA)
          C=0.000004/1 (TOPMED)
          HGVS:
          5.

          rs1486417893 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>A,G [Show Flanks]
            Chromosome:
            3:98265091 (GRCh38)
            3:97983935 (GRCh37)
            Canonical SPDI:
            NC_000003.12:98265090:C:A,NC_000003.12:98265090:C:G
            Gene:
            OR5H6 (Varview), LOC105373999 (Varview)
            Functional Consequence:
            coding_sequence_variant,intron_variant,synonymous_variant,genic_downstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0.000043/1 (ALFA)
            A=0.000004/1 (TOPMED)
            G=0.000007/1 (GnomAD)
            HGVS:
            6.

            rs1486362595 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>G [Show Flanks]
              Chromosome:
              3:98262723 (GRCh38)
              3:97981567 (GRCh37)
              Canonical SPDI:
              NC_000003.12:98262722:T:G
              Gene:
              OR5H6 (Varview), LOC105373999 (Varview)
              Functional Consequence:
              non_coding_transcript_variant,upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0./0 (ALFA)
              G=0.000011/3 (TOPMED)
              G=0.000014/2 (GnomAD)
              HGVS:
              7.

              rs1486287650 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                3:98263863 (GRCh38)
                3:97982707 (GRCh37)
                Canonical SPDI:
                NC_000003.12:98263862:A:G
                Gene:
                OR5H6 (Varview), LOC105373999 (Varview)
                Functional Consequence:
                intron_variant,upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant
                Validated:
                by frequency,by alfa
                MAF:
                G=0.000071/1 (ALFA)
                G=0.000007/1 (GnomAD)
                HGVS:
                8.

                rs1486257543 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>G [Show Flanks]
                  Chromosome:
                  3:98261783 (GRCh38)
                  3:97980627 (GRCh37)
                  Canonical SPDI:
                  NC_000003.12:98261782:C:G
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000007/1 (GnomAD)
                  G=0.000008/2 (TOPMED)
                  HGVS:
                  9.

                  rs1484863374 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    3:98261273 (GRCh38)
                    3:97980117 (GRCh37)
                    Canonical SPDI:
                    NC_000003.12:98261272:C:T
                    Validated:
                    by frequency,by alfa
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000004/1 (TOPMED)
                    HGVS:
                    10.

                    rs1482769073 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>C [Show Flanks]
                      Chromosome:
                      3:98261997 (GRCh38)
                      3:97980841 (GRCh37)
                      Canonical SPDI:
                      NC_000003.12:98261996:G:C
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000004/1 (TOPMED)
                      C=0.000007/1 (GnomAD)
                      HGVS:
                      11.

                      rs1482208983 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        3:98262498 (GRCh38)
                        3:97981342 (GRCh37)
                        Canonical SPDI:
                        NC_000003.12:98262497:T:C
                        Gene:
                        OR5H6 (Varview), LOC105373999 (Varview)
                        Functional Consequence:
                        upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000021/3 (GnomAD)
                        C=0.000023/6 (TOPMED)
                        C=0.000156/1 (1000Genomes)
                        HGVS:
                        12.

                        rs1480951597 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          3:98264467 (GRCh38)
                          3:97983311 (GRCh37)
                          Canonical SPDI:
                          NC_000003.12:98264466:A:G
                          Gene:
                          OR5H6 (Varview), LOC105373999 (Varview)
                          Functional Consequence:
                          genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant,intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000007/1 (GnomAD)
                          G=0.000142/2 (TOMMO)
                          HGVS:
                          13.

                          rs1480899157 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            AT>- [Show Flanks]
                            Chromosome:
                            3:98264980 (GRCh38)
                            3:97983824 (GRCh37)
                            Canonical SPDI:
                            NC_000003.12:98264976:TATAT:TAT
                            Gene:
                            OR5H6 (Varview), LOC105373999 (Varview)
                            Functional Consequence:
                            genic_downstream_transcript_variant,coding_sequence_variant,intron_variant,frameshift_variant
                            Validated:
                            by frequency
                            MAF:
                            -=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            14.

                            rs1480375486 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>T [Show Flanks]
                              Chromosome:
                              3:98264059 (GRCh38)
                              3:97982903 (GRCh37)
                              Canonical SPDI:
                              NC_000003.12:98264058:A:T
                              Gene:
                              OR5H6 (Varview), LOC105373999 (Varview)
                              Functional Consequence:
                              genic_downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000008/2 (TOPMED)
                              T=0.000014/2 (GnomAD)
                              HGVS:
                              15.

                              rs1478879710 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A,C [Show Flanks]
                                Chromosome:
                                3:98265583 (GRCh38)
                                3:97984427 (GRCh37)
                                Canonical SPDI:
                                NC_000003.12:98265582:G:A,NC_000003.12:98265582:G:C
                                Gene:
                                OR5H6 (Varview), LOC105373999 (Varview)
                                Functional Consequence:
                                downstream_transcript_variant,genic_downstream_transcript_variant,500B_downstream_variant,intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1478279172 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  3:98263922 (GRCh38)
                                  3:97982766 (GRCh37)
                                  Canonical SPDI:
                                  NC_000003.12:98263921:T:C
                                  Gene:
                                  OR5H6 (Varview), LOC105373999 (Varview)
                                  Functional Consequence:
                                  genic_downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000004/1 (TOPMED)
                                  C=0.000007/1 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1477787458 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>A [Show Flanks]
                                    Chromosome:
                                    3:98261804 (GRCh38)
                                    3:97980648 (GRCh37)
                                    Canonical SPDI:
                                    NC_000003.12:98261803:T:A
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000004/1 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1477764393 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      3:98265097 (GRCh38)
                                      3:97983941 (GRCh37)
                                      Canonical SPDI:
                                      NC_000003.12:98265096:C:T
                                      Gene:
                                      OR5H6 (Varview), LOC105373999 (Varview)
                                      Functional Consequence:
                                      genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      19.

                                      rs1477680373 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        3:98264430 (GRCh38)
                                        3:97983274 (GRCh37)
                                        Canonical SPDI:
                                        NC_000003.12:98264429:T:C
                                        Gene:
                                        OR5H6 (Varview), LOC105373999 (Varview)
                                        Functional Consequence:
                                        missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000004/1 (TOPMED)
                                        C=0.000021/3 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1477628048 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          3:98263094 (GRCh38)
                                          3:97981938 (GRCh37)
                                          Canonical SPDI:
                                          NC_000003.12:98263093:G:A
                                          Gene:
                                          OR5H6 (Varview), LOC105373999 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,genic_downstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000004/1 (TOPMED)
                                          HGVS:

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