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Links from Gene

Items: 1 to 20 of 1118

1.

rs1491552293 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    ->GAA [Show Flanks]
    Chromosome:
    17:3399298 (GRCh38)
    17:3302593 (GRCh37)
    Canonical SPDI:
    NC_000017.11:3399298:AAGAA:AAGAAGAA
    Gene:
    OR1E1 (Varview)
    Functional Consequence:
    2KB_upstream_variant,upstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    AAGAAGAA=0.000084/1 (ALFA)
    AAG=0.00382/415 (GnomAD)
    HGVS:
    2.

    rs1491488900 has merged into rs1376888843 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      AA>-,A,AAA,AAAA [Show Flanks]
      Chromosome:
      17:3399299 (GRCh38)
      17:3302593 (GRCh37)
      Canonical SPDI:
      NC_000017.11:3399297:AAA:A,NC_000017.11:3399297:AAA:AA,NC_000017.11:3399297:AAA:AAAA,NC_000017.11:3399297:AAA:AAAAA
      Gene:
      OR1E1 (Varview)
      Functional Consequence:
      upstream_transcript_variant,2KB_upstream_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      AAAA=0./0 (ALFA)
      -=0.0006/9 (TOMMO)
      -=0.00119/2 (Korea1K)
      -=0.00168/1 (NorthernSweden)
      HGVS:
      3.

      rs1491356141 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        AA>-,A,AAAA,AACAAA [Show Flanks]
        Chromosome:
        17:3399295 (GRCh38)
        17:3302589 (GRCh37)
        Canonical SPDI:
        NC_000017.11:3399293:AAA:A,NC_000017.11:3399293:AAA:AA,NC_000017.11:3399293:AAA:AAAAA,NC_000017.11:3399293:AAA:AAACAAA
        Gene:
        OR1E1 (Varview)
        Functional Consequence:
        2KB_upstream_variant,upstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        AAAAA=0./0 (ALFA)
        -=0.000004/1 (TOPMED)
        -=0.0001/6 (GnomAD)
        HGVS:
        4.

        rs1491330495 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          GA>-,GAGA [Show Flanks]
          Chromosome:
          17:3399275 (GRCh38)
          17:3302569 (GRCh37)
          Canonical SPDI:
          NC_000017.11:3399273:AGA:A,NC_000017.11:3399273:AGA:AGAGA
          Gene:
          OR1E1 (Varview)
          Functional Consequence:
          2KB_upstream_variant,upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0.00017/2 (ALFA)
          AG=0.00064/13 (TOMMO)
          -=0.00217/105 (GnomAD)
          HGVS:
          5.

          rs1491320728 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            ->GAAAGAA [Show Flanks]
            Chromosome:
            17:3399294 (GRCh38)
            17:3302589 (GRCh37)
            Canonical SPDI:
            NC_000017.11:3399294:AAGAAAGAA:AAGAAAGAAGAAAGAA
            Gene:
            OR1E1 (Varview)
            Functional Consequence:
            2KB_upstream_variant,upstream_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            AAGAAAGAAGAAAGAA=0.00017/2 (ALFA)
            HGVS:
            6.

            rs1491205035 [Homo sapiens]
              Variant type:
              INS
              Alleles:
              ->AG,AGGAAAG,AGGAAAGGAAAG [Show Flanks]
              Chromosome:
              17:3399274 (GRCh38)
              17:3302569 (GRCh37)
              Canonical SPDI:
              NC_000017.11:3399274::AG,NC_000017.11:3399274::AGGAAAG,NC_000017.11:3399274::AGGAAAGGAAAG
              Gene:
              OR1E1 (Varview)
              Functional Consequence:
              2KB_upstream_variant,upstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              AGGAAAG=0./0 (ALFA)
              AG=0.03378/20 (NorthernSweden)
              HGVS:
              7.

              rs1491068096 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                ->AGAAA [Show Flanks]
                Chromosome:
                17:3399293 (GRCh38)
                17:3302588 (GRCh37)
                Canonical SPDI:
                NC_000017.11:3399293:AAAGAAA:AAAGAAAAGAAA
                Gene:
                OR1E1 (Varview)
                Functional Consequence:
                2KB_upstream_variant,upstream_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                AAAGAAAAGAAA=0./0 (ALFA)
                AAAGA=0.00007/4 (GnomAD)
                HGVS:
                8.

                rs1491041513 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  ->AGAAAGA [Show Flanks]
                  Chromosome:
                  17:3399330 (GRCh38)
                  17:3302625 (GRCh37)
                  Canonical SPDI:
                  NC_000017.11:3399330:AAGAAAGA:AAGAAAGAAGAAAGA
                  Gene:
                  OR1E1 (Varview)
                  Functional Consequence:
                  2KB_upstream_variant,upstream_transcript_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  AAGAAAGAAGAAAGA=0./0 (ALFA)
                  HGVS:
                  9.

                  rs1490539267 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    17:3399874 (GRCh38)
                    17:3303168 (GRCh37)
                    Canonical SPDI:
                    NC_000017.11:3399873:A:G
                    Gene:
                    OR1E1 (Varview)
                    Functional Consequence:
                    2KB_upstream_variant,upstream_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000007/1 (GnomAD)
                    HGVS:
                    10.

                    rs1489338046 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      17:3398369 (GRCh38)
                      17:3301663 (GRCh37)
                      Canonical SPDI:
                      NC_000017.11:3398368:G:A
                      Gene:
                      OR1E1 (Varview)
                      Functional Consequence:
                      synonymous_variant,coding_sequence_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:
                      11.

                      rs1489328520 has merged into rs1214142819 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA>-,GGAA,GGAAGGAA,GGAAGGAAGGAA,GGAAGGAAGGAAGGAA,GGAAGGAAGGAAGGAAGGAA,GGAAGGAAGGAAGGAAGGAAGGAA,GGAAGGAAGGAAGGAAGGAAGGAAGGAA,GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA,GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA,GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA,GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA,GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA [Show Flanks]
                        Chromosome:
                        17:3399233 (GRCh38)
                        17:3302527 (GRCh37)
                        Canonical SPDI:
                        NC_000017.11:3399209:GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA:GAAGGAAGGAAGGAAGGAAGGAA,NC_000017.11:3399209:GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA:GAAGGAAGGAAGGAAGGAAGGAAGGAA,NC_000017.11:3399209:GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA:GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA,NC_000017.11:3399209:GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA:GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA,NC_000017.11:3399209:GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA:GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA,NC_000017.11:3399209:GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA:GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA,NC_000017.11:3399209:GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA:GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA,NC_000017.11:3399209:GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA:GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA,NC_000017.11:3399209:GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA:GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA,NC_000017.11:3399209:GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA:GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA,NC_000017.11:3399209:GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA:GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA,NC_000017.11:3399209:GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA:GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA,NC_000017.11:3399209:GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA:GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA
                        Gene:
                        OR1E1 (Varview)
                        Functional Consequence:
                        2KB_upstream_variant,upstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        GAAGGAAGGAAGGAAGGAAGGAAGGAA=0./0 (ALFA)
                        HGVS:
                        NC_000017.11:g.3399213GGAA[5], NC_000017.11:g.3399213GGAA[6], NC_000017.11:g.3399213GGAA[7], NC_000017.11:g.3399213GGAA[8], NC_000017.11:g.3399213GGAA[9], NC_000017.11:g.3399213GGAA[10], NC_000017.11:g.3399213GGAA[11], NC_000017.11:g.3399213GGAA[12], NC_000017.11:g.3399213GGAA[14], NC_000017.11:g.3399213GGAA[15], NC_000017.11:g.3399213GGAA[16], NC_000017.11:g.3399213GGAA[17], NC_000017.11:g.3399213GGAA[18], NC_000017.10:g.3302507GGAA[5], NC_000017.10:g.3302507GGAA[6], NC_000017.10:g.3302507GGAA[7], NC_000017.10:g.3302507GGAA[8], NC_000017.10:g.3302507GGAA[9], NC_000017.10:g.3302507GGAA[10], NC_000017.10:g.3302507GGAA[11], NC_000017.10:g.3302507GGAA[12], NC_000017.10:g.3302507GGAA[14], NC_000017.10:g.3302507GGAA[15], NC_000017.10:g.3302507GGAA[16], NC_000017.10:g.3302507GGAA[17], NC_000017.10:g.3302507GGAA[18]
                        12.

                        rs1489037776 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G,T [Show Flanks]
                          Chromosome:
                          17:3399176 (GRCh38)
                          17:3302470 (GRCh37)
                          Canonical SPDI:
                          NC_000017.11:3399175:A:G,NC_000017.11:3399175:A:T
                          Gene:
                          OR1E1 (Varview)
                          Functional Consequence:
                          2KB_upstream_variant,upstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000004/1 (TOPMED)
                          G=0.000031/1 (GnomAD)
                          HGVS:
                          13.

                          rs1487859737 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            17:3399236 (GRCh38)
                            17:3302530 (GRCh37)
                            Canonical SPDI:
                            NC_000017.11:3399235:A:G
                            Gene:
                            OR1E1 (Varview)
                            Functional Consequence:
                            2KB_upstream_variant,upstream_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            G=0./0 (ALFA)
                            G=0.00001/1 (GnomAD)
                            HGVS:
                            14.

                            rs1487533028 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              ->GAAAGGAAAGGAAAGGAAG,GAAAGGAAAGGAAG,GAAAGGAAG,GAAG [Show Flanks]
                              Chromosome:
                              17:3399276 (GRCh38)
                              17:3302571 (GRCh37)
                              Canonical SPDI:
                              NC_000017.11:3399276:AAG:AAGGAAAGGAAAGGAAAGGAAG,NC_000017.11:3399276:AAG:AAGGAAAGGAAAGGAAG,NC_000017.11:3399276:AAG:AAGGAAAGGAAG,NC_000017.11:3399276:AAG:AAGGAAG
                              Gene:
                              OR1E1 (Varview)
                              Functional Consequence:
                              2KB_upstream_variant,upstream_transcript_variant
                              Validated:
                              by cluster
                              HGVS:
                              15.

                              rs1487199431 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>A [Show Flanks]
                                Chromosome:
                                17:3398647 (GRCh38)
                                17:3301941 (GRCh37)
                                Canonical SPDI:
                                NC_000017.11:3398646:T:A
                                Gene:
                                OR1E1 (Varview)
                                Functional Consequence:
                                2KB_upstream_variant,upstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000011/3 (TOPMED)
                                A=0.000021/3 (GnomAD)
                                HGVS:
                                16.

                                rs1486487699 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>A [Show Flanks]
                                  Chromosome:
                                  17:3399597 (GRCh38)
                                  17:3302891 (GRCh37)
                                  Canonical SPDI:
                                  NC_000017.11:3399596:C:A
                                  Gene:
                                  OR1E1 (Varview)
                                  Functional Consequence:
                                  2KB_upstream_variant,upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000014/2 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1485766768 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    17:3398399 (GRCh38)
                                    17:3301693 (GRCh37)
                                    Canonical SPDI:
                                    NC_000017.11:3398398:T:C
                                    Gene:
                                    OR1E1 (Varview)
                                    Functional Consequence:
                                    synonymous_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000004/1 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1485715153 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      AGAAAGAAAGAAAGAAAGAAGGAAGGAAGGAA>- [Show Flanks]
                                      Chromosome:
                                      17:3399193 (GRCh38)
                                      17:3302487 (GRCh37)
                                      Canonical SPDI:
                                      NC_000017.11:3399189:GAAAGAAAGAAAGAAAGAAAGAAGGAAGGAAGGAA:GAA
                                      Gene:
                                      OR1E1 (Varview)
                                      Functional Consequence:
                                      2KB_upstream_variant,upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      GAA=0./0 (ALFA)
                                      -=0.00012/6 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1485133657 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        17:3399173 (GRCh38)
                                        17:3302467 (GRCh37)
                                        Canonical SPDI:
                                        NC_000017.11:3399172:A:G
                                        Gene:
                                        OR1E1 (Varview)
                                        Functional Consequence:
                                        2KB_upstream_variant,upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        G=0./0 (ALFA)
                                        HGVS:
                                        20.

                                        rs1484732196 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          GGAAGGAAGGAAGGAAGGA>- [Show Flanks]
                                          Chromosome:
                                          17:3399233 (GRCh38)
                                          17:3302527 (GRCh37)
                                          Canonical SPDI:
                                          NC_000017.11:3399231:AGGAAGGAAGGAAGGAAGGA:A
                                          Gene:
                                          OR1E1 (Varview)
                                          Functional Consequence:
                                          2KB_upstream_variant,upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          A=0./0 (ALFA)
                                          HGVS:

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