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Links from Gene

Items: 1 to 20 of 5688

1.

rs1491408157 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    ->AC [Show Flanks]
    Chromosome:
    14:19929405 (GRCh38)
    14:20397565 (GRCh37)
    Canonical SPDI:
    NC_000014.9:19929405:C:CAC
    Gene:
    OR4K1 (Varview), LOC124903278 (Varview)
    Functional Consequence:
    upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
    Validated:
    by frequency
    MAF:
    CA=0.000008/1 (GnomAD)
    HGVS:
    2.

    rs1491270429 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      CA>- [Show Flanks]
      Chromosome:
      14:19924400 (GRCh38)
      14:20392559 (GRCh37)
      Canonical SPDI:
      NC_000014.9:19924399:CA:
      Gene:
      OR4K1 (Varview), LOC124903278 (Varview)
      Functional Consequence:
      genic_upstream_transcript_variant,intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      -=0.00093/11 (ALFA)
      -=0.00038/10 (TOMMO)
      HGVS:
      3.

      rs1491266233 has merged into rs1491109070 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        CG>-,CGCG [Show Flanks]
        Chromosome:
        14:19929406 (GRCh38)
        14:20397565 (GRCh37)
        Canonical SPDI:
        NC_000014.9:19929404:GCG:G,NC_000014.9:19929404:GCG:GCGCG
        Gene:
        OR4K1 (Varview), LOC124903278 (Varview)
        Functional Consequence:
        upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        GCGCG=0./0 (ALFA)
        GC=0.00004/1 (TOMMO)
        -=0.07421/286 (ALSPAC)
        -=0.07524/279 (TWINSUK)
        HGVS:
        4.

        rs1491109070 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          CG>-,CGCG [Show Flanks]
          Chromosome:
          14:19929406 (GRCh38)
          14:20397565 (GRCh37)
          Canonical SPDI:
          NC_000014.9:19929404:GCG:G,NC_000014.9:19929404:GCG:GCGCG
          Gene:
          OR4K1 (Varview), LOC124903278 (Varview)
          Functional Consequence:
          upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          GCGCG=0./0 (ALFA)
          GC=0.00004/1 (TOMMO)
          -=0.07421/286 (ALSPAC)
          -=0.07524/279 (TWINSUK)
          HGVS:
          5.

          rs1491074387 [Homo sapiens]
            Variant type:
            DEL
            Alleles:
            CA>- [Show Flanks]
            Chromosome:
            14:19922078 (GRCh38)
            14:20390237 (GRCh37)
            Canonical SPDI:
            NC_000014.9:19922077:CA:
            Gene:
            OR4K5 (Varview), OR4K1 (Varview), LOC124903278 (Varview)
            Functional Consequence:
            genic_upstream_transcript_variant,intron_variant,500B_downstream_variant,downstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            -=0.000084/1 (ALFA)
            -=0.000035/1 (TOMMO)
            -=0.000143/17 (GnomAD)
            HGVS:
            6.

            rs1490992582 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              14:19932098 (GRCh38)
              14:20400257 (GRCh37)
              Canonical SPDI:
              NC_000014.9:19932097:G:A
              Gene:
              OR4K1 (Varview), LOC124903278 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              A=0./0 (ALFA)
              A=0.000007/1 (GnomAD)
              HGVS:
              7.

              rs1490947343 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C,G [Show Flanks]
                Chromosome:
                14:19934776 (GRCh38)
                14:20402935 (GRCh37)
                Canonical SPDI:
                NC_000014.9:19934775:T:C,NC_000014.9:19934775:T:G
                Gene:
                OR4K1 (Varview), LOC124903278 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                G=0./0 (GnomAD)
                C=0.000004/1 (TOPMED)
                HGVS:
                8.

                rs1490901108 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>T [Show Flanks]
                  Chromosome:
                  14:19930272 (GRCh38)
                  14:20398431 (GRCh37)
                  Canonical SPDI:
                  NC_000014.9:19930271:A:T
                  Gene:
                  OR4K1 (Varview), LOC124903278 (Varview)
                  Functional Consequence:
                  upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
                  Validated:
                  by frequency
                  MAF:
                  T=0.000007/1 (GnomAD)
                  HGVS:
                  9.

                  rs1490849299 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>C [Show Flanks]
                    Chromosome:
                    14:19922064 (GRCh38)
                    14:20390223 (GRCh37)
                    Canonical SPDI:
                    NC_000014.9:19922063:G:C
                    Gene:
                    OR4K5 (Varview), OR4K1 (Varview), LOC124903278 (Varview)
                    Functional Consequence:
                    genic_upstream_transcript_variant,intron_variant,500B_downstream_variant,downstream_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000008/1 (GnomAD)
                    HGVS:
                    10.

                    rs1490554698 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      ->ATT [Show Flanks]
                      Chromosome:
                      14:19928282 (GRCh38)
                      14:20396442 (GRCh37)
                      Canonical SPDI:
                      NC_000014.9:19928282:TTATT:TTATTATT
                      Gene:
                      OR4K1 (Varview), LOC124903278 (Varview)
                      Functional Consequence:
                      genic_upstream_transcript_variant,intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      TTATTATT=0./0 (ALFA)
                      HGVS:
                      11.

                      rs1490505583 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>A [Show Flanks]
                        Chromosome:
                        14:19934454 (GRCh38)
                        14:20402613 (GRCh37)
                        Canonical SPDI:
                        NC_000014.9:19934453:T:A
                        Gene:
                        OR4K1 (Varview), LOC124903278 (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:
                        12.

                        rs1490483088 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          14:19923062 (GRCh38)
                          14:20391221 (GRCh37)
                          Canonical SPDI:
                          NC_000014.9:19923061:A:G
                          Gene:
                          OR4K1 (Varview), LOC124903278 (Varview)
                          Functional Consequence:
                          genic_upstream_transcript_variant,intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000014/2 (GnomAD)
                          HGVS:
                          13.

                          rs1490455628 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            14:19935075 (GRCh38)
                            14:20403234 (GRCh37)
                            Canonical SPDI:
                            NC_000014.9:19935074:C:T
                            Gene:
                            OR4K1 (Varview), LOC124903278 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            T=0.000071/1 (ALFA)
                            T=0.000004/1 (TOPMED)
                            HGVS:
                            14.

                            rs1490173952 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>A,G [Show Flanks]
                              Chromosome:
                              14:19931205 (GRCh38)
                              14:20399364 (GRCh37)
                              Canonical SPDI:
                              NC_000014.9:19931204:C:A,NC_000014.9:19931204:C:G
                              Gene:
                              OR4K1 (Varview), LOC124903278 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000004/1 (TOPMED)
                              G=0.000007/1 (GnomAD)
                              HGVS:
                              15.

                              rs1490158549 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>A,T [Show Flanks]
                                Chromosome:
                                14:19922437 (GRCh38)
                                14:20390596 (GRCh37)
                                Canonical SPDI:
                                NC_000014.9:19922436:C:A,NC_000014.9:19922436:C:T
                                Gene:
                                OR4K1 (Varview), LOC124903278 (Varview)
                                Functional Consequence:
                                genic_upstream_transcript_variant,intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                A=0.000004/1 (TOPMED)
                                A=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1490081867 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  14:19929465 (GRCh38)
                                  14:20397624 (GRCh37)
                                  Canonical SPDI:
                                  NC_000014.9:19929464:T:C
                                  Gene:
                                  OR4K1 (Varview), LOC124903278 (Varview)
                                  Functional Consequence:
                                  upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000014/2 (GnomAD)
                                  C=0.000312/2 (1000Genomes)
                                  HGVS:
                                  17.

                                  rs1489697912 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>A [Show Flanks]
                                    Chromosome:
                                    14:19927798 (GRCh38)
                                    14:20395957 (GRCh37)
                                    Canonical SPDI:
                                    NC_000014.9:19927797:C:A
                                    Gene:
                                    OR4K1 (Varview), LOC124903278 (Varview)
                                    Functional Consequence:
                                    genic_upstream_transcript_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000007/1 (GnomAD)
                                    A=0.000342/1 (KOREAN)
                                    HGVS:
                                    18.

                                    rs1489632915 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>T [Show Flanks]
                                      Chromosome:
                                      14:19923472 (GRCh38)
                                      14:20391631 (GRCh37)
                                      Canonical SPDI:
                                      NC_000014.9:19923471:A:T
                                      Gene:
                                      OR4K1 (Varview), LOC124903278 (Varview)
                                      Functional Consequence:
                                      genic_upstream_transcript_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000007/1 (GnomAD)
                                      T=0.000008/2 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1489630071 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>A,C [Show Flanks]
                                        Chromosome:
                                        14:19928700 (GRCh38)
                                        14:20396859 (GRCh37)
                                        Canonical SPDI:
                                        NC_000014.9:19928699:T:A,NC_000014.9:19928699:T:C
                                        Gene:
                                        OR4K1 (Varview), LOC124903278 (Varview)
                                        Functional Consequence:
                                        genic_upstream_transcript_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000007/1 (GnomAD)
                                        C=0.000015/4 (TOPMED)
                                        C=0.000035/1 (TOMMO)
                                        HGVS:
                                        20.

                                        rs1489465849 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>G [Show Flanks]
                                          Chromosome:
                                          14:19932489 (GRCh38)
                                          14:20400648 (GRCh37)
                                          Canonical SPDI:
                                          NC_000014.9:19932488:C:G
                                          Gene:
                                          OR4K1 (Varview), LOC124903278 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000043/6 (GnomAD)
                                          HGVS:

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