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Links from Gene

Items: 1 to 20 of 1026

1.

rs1490884797 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    10:122911567 (GRCh38)
    10:124671083 (GRCh37)
    Canonical SPDI:
    NC_000010.11:122911566:G:A
    Gene:
    FAM24A (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0./0 (ALFA)
    A=0.000014/2 (GnomAD)
    A=0.000015/4 (TOPMED)
    HGVS:
    2.

    rs1490445971 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      10:122912633 (GRCh38)
      10:124672149 (GRCh37)
      Canonical SPDI:
      NC_000010.11:122912632:C:T
      Gene:
      FAM24A (Varview)
      Functional Consequence:
      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:
      3.

      rs1489145409 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>G [Show Flanks]
        Chromosome:
        10:122912804 (GRCh38)
        10:124672320 (GRCh37)
        Canonical SPDI:
        NC_000010.11:122912803:C:G
        Gene:
        FAM24A (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0./0 (ALFA)
        G=0.000004/1 (TOPMED)
        G=0.000016/4 (GnomAD_exomes)
        HGVS:
        4.

        rs1488709683 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          10:122910484 (GRCh38)
          10:124670000 (GRCh37)
          Canonical SPDI:
          NC_000010.11:122910483:A:G
          Gene:
          FAM24A (Varview)
          Functional Consequence:
          2KB_upstream_variant,upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0./0 (ALFA)
          G=0.000007/1 (GnomAD)
          G=0.000019/5 (TOPMED)
          HGVS:
          5.

          rs1488299732 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            10:122913140 (GRCh38)
            10:124672656 (GRCh37)
            Canonical SPDI:
            NC_000010.11:122913139:A:G
            Gene:
            FAM24A (Varview)
            Functional Consequence:
            500B_downstream_variant,downstream_transcript_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:
            6.

            rs1487952719 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              10:122911814 (GRCh38)
              10:124671330 (GRCh37)
              Canonical SPDI:
              NC_000010.11:122911813:C:T
              Gene:
              FAM24A (Varview)
              Functional Consequence:
              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:
              7.

              rs1487623473 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                10:122910727 (GRCh38)
                10:124670243 (GRCh37)
                Canonical SPDI:
                NC_000010.11:122910726:A:G
                Gene:
                FAM24A (Varview)
                Functional Consequence:
                5_prime_UTR_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                G=0.000008/2 (TOPMED)
                G=0.000029/4 (GnomAD)
                HGVS:
                8.

                rs1487097958 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  ->CC [Show Flanks]
                  Chromosome:
                  10:122912161 (GRCh38)
                  10:124671678 (GRCh37)
                  Canonical SPDI:
                  NC_000010.11:122912161:CC:CCCC
                  Gene:
                  FAM24A (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  CCCC=0./0 (ALFA)
                  CC=0.000008/2 (TOPMED)
                  CC=0.000014/2 (GnomAD)
                  HGVS:
                  9.

                  rs1487075448 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    10:122911090 (GRCh38)
                    10:124670606 (GRCh37)
                    Canonical SPDI:
                    NC_000010.11:122911089:G:A
                    Gene:
                    FAM24A (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:
                    10.

                    rs1485655672 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      10:122909320 (GRCh38)
                      10:124668836 (GRCh37)
                      Canonical SPDI:
                      NC_000010.11:122909319:T:C
                      Gene:
                      FAM24A (Varview)
                      Functional Consequence:
                      upstream_transcript_variant,2KB_upstream_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000007/1 (GnomAD)
                      HGVS:
                      11.

                      rs1485444418 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        10:122909341 (GRCh38)
                        10:124668857 (GRCh37)
                        Canonical SPDI:
                        NC_000010.11:122909340:G:A
                        Gene:
                        FAM24A (Varview)
                        Functional Consequence:
                        upstream_transcript_variant,2KB_upstream_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        A=0./0 (ALFA)
                        HGVS:
                        12.

                        rs1484690308 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>G,T [Show Flanks]
                          Chromosome:
                          10:122909783 (GRCh38)
                          10:124669299 (GRCh37)
                          Canonical SPDI:
                          NC_000010.11:122909782:C:G,NC_000010.11:122909782:C:T
                          Gene:
                          FAM24A (Varview)
                          Functional Consequence:
                          upstream_transcript_variant,2KB_upstream_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          HGVS:
                          13.

                          rs1480718976 [Homo sapiens]
                            Variant type:
                            INS
                            Alleles:
                            ->GG [Show Flanks]
                            Chromosome:
                            10:122909047 (GRCh38)
                            10:124668564 (GRCh37)
                            Canonical SPDI:
                            NC_000010.11:122909047::GG
                            Gene:
                            FAM24A (Varview)
                            Functional Consequence:
                            upstream_transcript_variant,2KB_upstream_variant
                            Validated:
                            by frequency
                            MAF:
                            GG=0.000078/11 (GnomAD)
                            HGVS:
                            14.

                            rs1480714576 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              10:122913164 (GRCh38)
                              10:124672680 (GRCh37)
                              Canonical SPDI:
                              NC_000010.11:122913163:T:C
                              Gene:
                              FAM24A (Varview)
                              Functional Consequence:
                              downstream_transcript_variant,500B_downstream_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              C=0.000071/1 (ALFA)
                              C=0.000004/1 (TOPMED)
                              HGVS:
                              15.

                              rs1480664083 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                10:122911931 (GRCh38)
                                10:124671447 (GRCh37)
                                Canonical SPDI:
                                NC_000010.11:122911930:C:T
                                Gene:
                                FAM24A (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000004/1 (TOPMED)
                                T=0.000546/1 (Korea1K)
                                HGVS:
                                16.

                                rs1480655289 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  10:122911866 (GRCh38)
                                  10:124671382 (GRCh37)
                                  Canonical SPDI:
                                  NC_000010.11:122911865:T:C
                                  Gene:
                                  FAM24A (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000004/1 (TOPMED)
                                  C=0.000079/11 (GnomAD)
                                  C=0.001667/1 (NorthernSweden)
                                  HGVS:
                                  17.

                                  rs1479555552 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    10:122910031 (GRCh38)
                                    10:124669547 (GRCh37)
                                    Canonical SPDI:
                                    NC_000010.11:122910030:T:C
                                    Gene:
                                    FAM24A (Varview)
                                    Functional Consequence:
                                    upstream_transcript_variant,2KB_upstream_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000007/1 (GnomAD)
                                    C=0.000011/3 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1478551992 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>G [Show Flanks]
                                      Chromosome:
                                      10:122908699 (GRCh38)
                                      10:124668215 (GRCh37)
                                      Canonical SPDI:
                                      NC_000010.11:122908698:T:G
                                      Gene:
                                      FAM24A (Varview)
                                      Functional Consequence:
                                      upstream_transcript_variant,2KB_upstream_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000019/5 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1478271985 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        10:122910617 (GRCh38)
                                        10:124670133 (GRCh37)
                                        Canonical SPDI:
                                        NC_000010.11:122910616:C:T
                                        Gene:
                                        FAM24A (Varview)
                                        Functional Consequence:
                                        5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000007/1 (GnomAD)
                                        T=0.000008/2 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1477125980 [Homo sapiens]
                                          Variant type:
                                          SNV:
                                          Alleles:
                                          C>T
                                          Chromosome:
                                          no mapping
                                          Canonical SPDI:

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