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Links from Gene

Items: 1 to 20 of 1661

1.

rs1490848414 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    22:23761497 (GRCh38)
    22:24103684 (GRCh37)
    Canonical SPDI:
    NC_000022.11:23761496:G:A
    Gene:
    C22orf15 (Varview)
    Functional Consequence:
    2KB_upstream_variant,upstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0./0 (ALFA)
    A=0.000008/2 (TOPMED)
    A=0.000546/1 (Korea1K)
    A=0.001033/3 (KOREAN)
    HGVS:
    2.

    rs1490753681 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      22:23766271 (GRCh38)
      22:24108458 (GRCh37)
      Canonical SPDI:
      NC_000022.11:23766270:G:A
      Gene:
      C22orf15 (Varview), CHCHD10 (Varview), LOC107985577 (Varview)
      Functional Consequence:
      500B_downstream_variant,downstream_transcript_variant,upstream_transcript_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant,2KB_upstream_variant
      HGVS:
      3.

      rs1490737895 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>C [Show Flanks]
        Chromosome:
        22:23764955 (GRCh38)
        22:24107142 (GRCh37)
        Canonical SPDI:
        NC_000022.11:23764954:G:C
        Gene:
        C22orf15 (Varview)
        Functional Consequence:
        3_prime_UTR_variant,intron_variant,genic_downstream_transcript_variant,downstream_transcript_variant
        Validated:
        by frequency
        MAF:
        C=0.000005/1 (GnomAD_exomes)
        HGVS:
        4.

        rs1490490130 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C,G [Show Flanks]
          Chromosome:
          22:23765898 (GRCh38)
          22:24108085 (GRCh37)
          Canonical SPDI:
          NC_000022.11:23765897:T:C,NC_000022.11:23765897:T:G
          Gene:
          C22orf15 (Varview), CHCHD10 (Varview)
          Functional Consequence:
          3_prime_UTR_variant,downstream_transcript_variant,non_coding_transcript_variant,500B_downstream_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0./0 (ALFA)
          C=0.000007/1 (GnomAD)
          G=0.000011/3 (TOPMED)
          HGVS:
          5.

          rs1489864013 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            22:23761128 (GRCh38)
            22:24103315 (GRCh37)
            Canonical SPDI:
            NC_000022.11:23761127:G:A
            Gene:
            C22orf15 (Varview)
            Functional Consequence:
            2KB_upstream_variant,upstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0./0 (ALFA)
            A=0.000004/1 (TOPMED)
            A=0.000014/2 (GnomAD)
            HGVS:
            8.

            rs1488861406 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A,T [Show Flanks]
              Chromosome:
              22:23763712 (GRCh38)
              22:24105899 (GRCh37)
              Canonical SPDI:
              NC_000022.11:23763711:G:A,NC_000022.11:23763711:G:T
              Gene:
              C22orf15 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              A=0.000007/1 (GnomAD)
              HGVS:
              9.

              rs1488655215 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                22:23762733 (GRCh38)
                22:24104920 (GRCh37)
                Canonical SPDI:
                NC_000022.11:23762732:T:C
                Gene:
                C22orf15 (Varview)
                Functional Consequence:
                2KB_upstream_variant,upstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0./0 (ALFA)
                C=0.000014/2 (GnomAD)
                C=0.000023/6 (TOPMED)
                HGVS:
                10.

                rs1486909490 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  AG>- [Show Flanks]
                  Chromosome:
                  22:23764639 (GRCh38)
                  22:24106826 (GRCh37)
                  Canonical SPDI:
                  NC_000022.11:23764636:AGAG:AG
                  Gene:
                  C22orf15 (Varview)
                  Functional Consequence:
                  splice_acceptor_variant,coding_sequence_variant,genic_downstream_transcript_variant,downstream_transcript_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  AGAG=0./0 (ALFA)
                  -=0.000004/1 (TOPMED)
                  HGVS:
                  11.

                  rs1486371129 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    22:23764420 (GRCh38)
                    22:24106607 (GRCh37)
                    Canonical SPDI:
                    NC_000022.11:23764419:C:T
                    Gene:
                    C22orf15 (Varview)
                    Functional Consequence:
                    intron_variant,coding_sequence_variant,synonymous_variant
                    Validated:
                    by cluster
                    HGVS:
                    12.

                    rs1486229885 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>T [Show Flanks]
                      Chromosome:
                      22:23761659 (GRCh38)
                      22:24103846 (GRCh37)
                      Canonical SPDI:
                      NC_000022.11:23761658:A:T
                      Gene:
                      C22orf15 (Varview)
                      Functional Consequence:
                      2KB_upstream_variant,upstream_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      T=0./0 (ALFA)
                      HGVS:
                      15.

                      rs1482219662 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        22:23761479 (GRCh38)
                        22:24103666 (GRCh37)
                        Canonical SPDI:
                        NC_000022.11:23761478:A:G
                        Gene:
                        C22orf15 (Varview)
                        Functional Consequence:
                        2KB_upstream_variant,upstream_transcript_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        G=0.00447/53 (ALFA)
                        G=0.04909/141 (KOREAN)
                        HGVS:
                        16.

                        rs1481468748 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          22:23765011 (GRCh38)
                          22:24107198 (GRCh37)
                          Canonical SPDI:
                          NC_000022.11:23765010:G:A
                          Gene:
                          C22orf15 (Varview)
                          Functional Consequence:
                          3_prime_UTR_variant,intron_variant,genic_downstream_transcript_variant,downstream_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000007/1 (GnomAD)
                          HGVS:
                          17.

                          rs1480816810 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            22:23764850 (GRCh38)
                            22:24107037 (GRCh37)
                            Canonical SPDI:
                            NC_000022.11:23764849:T:C
                            Gene:
                            C22orf15 (Varview)
                            Functional Consequence:
                            intron_variant,genic_downstream_transcript_variant,downstream_transcript_variant,missense_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000004/1 (TOPMED)
                            C=0.000007/1 (GnomAD)
                            HGVS:
                            18.

                            rs1480646015 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              22:23764946 (GRCh38)
                              22:24107133 (GRCh37)
                              Canonical SPDI:
                              NC_000022.11:23764945:C:T
                              Gene:
                              C22orf15 (Varview)
                              Functional Consequence:
                              3_prime_UTR_variant,intron_variant,genic_downstream_transcript_variant,downstream_transcript_variant
                              HGVS:
                              19.

                              rs1480641626 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                22:23761184 (GRCh38)
                                22:24103371 (GRCh37)
                                Canonical SPDI:
                                NC_000022.11:23761183:C:T
                                Gene:
                                C22orf15 (Varview)
                                Functional Consequence:
                                2KB_upstream_variant,upstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000014/2 (GnomAD)
                                T=0.000354/6 (TOMMO)
                                HGVS:
                                20.

                                rs1480573156 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>G [Show Flanks]
                                  Chromosome:
                                  22:23763499 (GRCh38)
                                  22:24105686 (GRCh37)
                                  Canonical SPDI:
                                  NC_000022.11:23763498:C:G
                                  Gene:
                                  C22orf15 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0.000071/1 (ALFA)
                                  G=0.000004/1 (TOPMED)
                                  G=0.000007/1 (GnomAD)
                                  HGVS:

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