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Links from Gene

Items: 1 to 20 of 4967

1.

rs1491563658 [Homo sapiens]
    Variant type:
    INS
    Alleles:
    ->G [Show Flanks]
    Chromosome:
    11:5812495 (GRCh38)
    11:5833726 (GRCh37)
    Canonical SPDI:
    NC_000011.10:5812495::G
    Gene:
    OR52N2 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    G=0./0 (ALFA)
    G=0.000004/1 (TOPMED)
    HGVS:
    2.

    rs1491199426 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      CA>- [Show Flanks]
      Chromosome:
      11:5812494 (GRCh38)
      11:5833724 (GRCh37)
      Canonical SPDI:
      NC_000011.10:5812493:CA:
      Gene:
      OR52N2 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      -=0.00059/7 (ALFA)
      -=0.00046/13 (TOMMO)
      HGVS:
      3.

      rs1491136267 has merged into rs57515736 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        AAAAAAAAAAA>-,A,AAA,AAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
        Chromosome:
        11:5812502 (GRCh38)
        11:5833732 (GRCh37)
        Canonical SPDI:
        NC_000011.10:5812494:AAAAAAAAAAAAAAAAAA:AAAAAAA,NC_000011.10:5812494:AAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000011.10:5812494:AAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000011.10:5812494:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000011.10:5812494:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000011.10:5812494:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000011.10:5812494:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000011.10:5812494:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000011.10:5812494:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000011.10:5812494:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000011.10:5812494:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:5812494:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:5812494:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:5812494:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:5812494:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:5812494:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:5812494:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
        Gene:
        OR52N2 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        AAAAAAAA=0./0 (ALFA)
        -=0.4089/2048 (1000Genomes)
        HGVS:
        NC_000011.10:g.5812502_5812512del, NC_000011.10:g.5812503_5812512del, NC_000011.10:g.5812505_5812512del, NC_000011.10:g.5812507_5812512del, NC_000011.10:g.5812510_5812512del, NC_000011.10:g.5812511_5812512del, NC_000011.10:g.5812512del, NC_000011.10:g.5812512dup, NC_000011.10:g.5812511_5812512dup, NC_000011.10:g.5812510_5812512dup, NC_000011.10:g.5812509_5812512dup, NC_000011.10:g.5812508_5812512dup, NC_000011.10:g.5812507_5812512dup, NC_000011.10:g.5812506_5812512dup, NC_000011.10:g.5812505_5812512dup, NC_000011.10:g.5812501_5812512dup, NC_000011.10:g.5812512_5812513insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000011.9:g.5833732_5833742del, NC_000011.9:g.5833733_5833742del, NC_000011.9:g.5833735_5833742del, NC_000011.9:g.5833737_5833742del, NC_000011.9:g.5833740_5833742del, NC_000011.9:g.5833741_5833742del, NC_000011.9:g.5833742del, NC_000011.9:g.5833742dup, NC_000011.9:g.5833741_5833742dup, NC_000011.9:g.5833740_5833742dup, NC_000011.9:g.5833739_5833742dup, NC_000011.9:g.5833738_5833742dup, NC_000011.9:g.5833737_5833742dup, NC_000011.9:g.5833736_5833742dup, NC_000011.9:g.5833735_5833742dup, NC_000011.9:g.5833731_5833742dup, NC_000011.9:g.5833742_5833743insAAAAAAAAAAAAAAAAAAAAAAAAAAAA
        4.

        rs1491037962 has merged into rs71468070 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          AT>-,ATAT,ATATAT,ATATATAT [Show Flanks]
          Chromosome:
          11:5815945 (GRCh38)
          11:5837175 (GRCh37)
          Canonical SPDI:
          NC_000011.10:5815935:TATATATATAT:TATATATAT,NC_000011.10:5815935:TATATATATAT:TATATATATATAT,NC_000011.10:5815935:TATATATATAT:TATATATATATATAT,NC_000011.10:5815935:TATATATATAT:TATATATATATATATAT
          Gene:
          OR52N2 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          TATATATATATATAT=0./0 (ALFA)
          -=0.425/255 (NorthernSweden)
          TA=0.45/18 (GENOME_DK)
          -=0.4639/463 (GoNL)
          HGVS:
          5.

          rs1490964257 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>T [Show Flanks]
            Chromosome:
            11:5812083 (GRCh38)
            11:5833313 (GRCh37)
            Canonical SPDI:
            NC_000011.10:5812082:G:T
            Gene:
            OR52N2 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            T=0.000193/27 (GnomAD)
            T=0.000204/54 (TOPMED)
            HGVS:
            6.

            rs1490923407 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              11:5804829 (GRCh38)
              11:5826059 (GRCh37)
              Canonical SPDI:
              NC_000011.10:5804828:A:G
              Validated:
              by frequency,by alfa
              MAF:
              G=0./0 (ALFA)
              G=0.000004/1 (TOPMED)
              HGVS:
              7.

              rs1490854417 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                11:5819936 (GRCh38)
                11:5841166 (GRCh37)
                Canonical SPDI:
                NC_000011.10:5819935:G:A
                Gene:
                OR52N2 (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)
                A=0.000342/1 (KOREAN)
                A=0.000354/6 (TOMMO)
                HGVS:
                8.

                rs1489842589 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>T [Show Flanks]
                  Chromosome:
                  11:5803399 (GRCh38)
                  11:5824629 (GRCh37)
                  Canonical SPDI:
                  NC_000011.10:5803398:A:T
                  Validated:
                  by frequency,by alfa
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000004/1 (TOPMED)
                  HGVS:
                  9.

                  rs1489819672 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    11:5810996 (GRCh38)
                    11:5832226 (GRCh37)
                    Canonical SPDI:
                    NC_000011.10:5810995:A:G
                    Gene:
                    OR52N2 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0.000071/1 (ALFA)
                    G=0.000007/1 (GnomAD)
                    G=0.000011/3 (TOPMED)
                    HGVS:
                    10.

                    rs1489804499 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      11:5808924 (GRCh38)
                      11:5830154 (GRCh37)
                      Canonical SPDI:
                      NC_000011.10:5808923:G:A
                      Gene:
                      OR52N2 (Varview)
                      Functional Consequence:
                      5_prime_UTR_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0.000071/1 (ALFA)
                      A=0.000004/1 (TOPMED)
                      A=0.000007/1 (GnomAD)
                      HGVS:
                      11.

                      rs1489797653 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>C [Show Flanks]
                        Chromosome:
                        11:5804342 (GRCh38)
                        11:5825572 (GRCh37)
                        Canonical SPDI:
                        NC_000011.10:5804341:A:C
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000004/1 (TOPMED)
                        C=0.000007/1 (GnomAD)
                        HGVS:
                        12.

                        rs1489669594 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          ATA>- [Show Flanks]
                          Chromosome:
                          11:5817988 (GRCh38)
                          11:5839218 (GRCh37)
                          Canonical SPDI:
                          NC_000011.10:5817983:AATAATA:AATA
                          Gene:
                          OR52N2 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          AATA=0./0 (ALFA)
                          -=0.000007/1 (GnomAD)
                          -=0.000023/6 (TOPMED)
                          HGVS:
                          13.

                          rs1489506216 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>C [Show Flanks]
                            Chromosome:
                            11:5805830 (GRCh38)
                            11:5827060 (GRCh37)
                            Canonical SPDI:
                            NC_000011.10:5805829:A:C
                            Validated:
                            by frequency,by alfa
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000007/1 (GnomAD)
                            HGVS:
                            14.

                            rs1489506203 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              11:5807776 (GRCh38)
                              11:5829006 (GRCh37)
                              Canonical SPDI:
                              NC_000011.10:5807775:C:T
                              Gene:
                              OR52N2 (Varview)
                              Functional Consequence:
                              2KB_upstream_variant,upstream_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              T=0.000071/1 (ALFA)
                              T=0.000007/1 (GnomAD)
                              HGVS:
                              15.

                              rs1489441222 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>C [Show Flanks]
                                Chromosome:
                                11:5814334 (GRCh38)
                                11:5835564 (GRCh37)
                                Canonical SPDI:
                                NC_000011.10:5814333:G:C
                                Gene:
                                OR52N2 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000015/4 (TOPMED)
                                C=0.000017/2 (GnomAD)
                                HGVS:
                                16.

                                rs1489319973 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>G,T [Show Flanks]
                                  Chromosome:
                                  11:5820340 (GRCh38)
                                  11:5841570 (GRCh37)
                                  Canonical SPDI:
                                  NC_000011.10:5820339:C:G,NC_000011.10:5820339:C:T
                                  Gene:
                                  OR52N2 (Varview)
                                  Functional Consequence:
                                  missense_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  17.

                                  rs1489290303 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    11:5814974 (GRCh38)
                                    11:5836204 (GRCh37)
                                    Canonical SPDI:
                                    NC_000011.10:5814973:G:A
                                    Gene:
                                    OR52N2 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000004/1 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1489010926 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      ->GT [Show Flanks]
                                      Chromosome:
                                      11:5815933 (GRCh38)
                                      11:5837164 (GRCh37)
                                      Canonical SPDI:
                                      NC_000011.10:5815933:TGT:TGTGT
                                      Gene:
                                      OR52N2 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      TGTGT=0.000084/1 (ALFA)
                                      TG=0.000096/10 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1488732158 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        11:5821855 (GRCh38)
                                        11:5843085 (GRCh37)
                                        Canonical SPDI:
                                        NC_000011.10:5821854:T:C
                                        Gene:
                                        OR52N2 (Varview)
                                        Functional Consequence:
                                        downstream_transcript_variant,500B_downstream_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000023/6 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1488556192 [Homo sapiens]
                                          Variant type:
                                          INS
                                          Alleles:
                                          ->A,AA [Show Flanks]
                                          Chromosome:
                                          11:5812493 (GRCh38)
                                          11:5833724 (GRCh37)
                                          Canonical SPDI:
                                          NC_000011.10:5812493::A,NC_000011.10:5812493::AA
                                          Gene:
                                          OR52N2 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          AA=0./0 (ALFA)
                                          A=0.00639/101 (TOMMO)
                                          A=0.00678/56 (GnomAD)
                                          HGVS:

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