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Links from Gene

Items: 1 to 20 of 1177

1.

rs1490984671 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    9:41126693 (GRCh38)
    9:69199922 (GRCh37)
    Canonical SPDI:
    NC_000009.12:41126692:C:T
    Gene:
    LINC03025 (Varview), FOXD4L6 (Varview)
    Functional Consequence:
    upstream_transcript_variant,3_prime_UTR_variant,2KB_upstream_variant
    Validated:
    by frequency,by alfa
    MAF:
    T=0.00025/3 (ALFA)
    HGVS:
    2.

    rs1490583075 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>C,T [Show Flanks]
      Chromosome:
      9:41126796 (GRCh38)
      9:69200025 (GRCh37)
      Canonical SPDI:
      NC_000009.12:41126795:G:C,NC_000009.12:41126795:G:T
      Gene:
      LINC03025 (Varview), FOXD4L6 (Varview)
      Functional Consequence:
      upstream_transcript_variant,3_prime_UTR_variant,2KB_upstream_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0.000066/1 (ALFA)
      C=0.000004/1 (TOPMED)
      T=0.000011/1 (GnomAD)
      HGVS:
      3.

      rs1490495458 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        9:41126111 (GRCh38)
        9:69199340 (GRCh37)
        Canonical SPDI:
        NC_000009.12:41126110:G:A
        Gene:
        LINC03025 (Varview), FOXD4L6 (Varview)
        Functional Consequence:
        upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant,2KB_upstream_variant
        Validated:
        by frequency,by alfa
        MAF:
        A=0./0 (ALFA)
        A=0.00004/1 (TOMMO)
        HGVS:
        4.

        rs1490449443 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          9:41127643 (GRCh38)
          9:69200872 (GRCh37)
          Canonical SPDI:
          NC_000009.12:41127642:C:T
          Gene:
          FOXD4L6 (Varview)
          Functional Consequence:
          coding_sequence_variant,synonymous_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0.00312/51 (ALFA)
          T=0.00276/8 (KOREAN)
          T=0.00315/53 (TOMMO)
          C=0.5/1 (SGDP_PRJ)
          HGVS:
          5.

          rs1490325292 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>T [Show Flanks]
            Chromosome:
            9:41126808 (GRCh38)
            9:69200037 (GRCh37)
            Canonical SPDI:
            NC_000009.12:41126807:G:T
            Gene:
            LINC03025 (Varview), FOXD4L6 (Varview)
            Functional Consequence:
            upstream_transcript_variant,3_prime_UTR_variant,2KB_upstream_variant
            Validated:
            by frequency,by alfa
            MAF:
            T=0./0 (ALFA)
            HGVS:
            6.

            rs1489528046 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              9:41127319 (GRCh38)
              9:69200548 (GRCh37)
              Canonical SPDI:
              NC_000009.12:41127318:G:A
              Gene:
              FOXD4L6 (Varview)
              Functional Consequence:
              coding_sequence_variant,synonymous_variant
              Validated:
              by frequency,by alfa
              MAF:
              A=0./0 (ALFA)
              HGVS:
              7.

              rs1489398879 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>C [Show Flanks]
                Chromosome:
                9:41130006 (GRCh38)
                9:69203235 (GRCh37)
                Canonical SPDI:
                NC_000009.12:41130005:G:C
                Gene:
                FOXD4L6 (Varview)
                Functional Consequence:
                upstream_transcript_variant,2KB_upstream_variant
                Validated:
                by frequency,by alfa
                MAF:
                C=0.00034/4 (ALFA)
                C=0.00019/6 (GnomAD)
                HGVS:
                8.

                rs1488567313 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  C>- [Show Flanks]
                  Chromosome:
                  9:41125945 (GRCh38)
                  9:69199174 (GRCh37)
                  Canonical SPDI:
                  NC_000009.12:41125944:CCCCCC:CCCCC
                  Gene:
                  LINC03025 (Varview), FOXD4L6 (Varview)
                  Functional Consequence:
                  upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant,2KB_upstream_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  CCCCC=0.00008/1 (ALFA)
                  HGVS:
                  9.

                  rs1488292148 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    ATTTATA>- [Show Flanks]
                    Chromosome:
                    9:41126076 (GRCh38)
                    9:69199305 (GRCh37)
                    Canonical SPDI:
                    NC_000009.12:41126071:TATAATTTATA:TATA
                    Gene:
                    LINC03025 (Varview), FOXD4L6 (Varview)
                    Functional Consequence:
                    upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant,2KB_upstream_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    TATA=0.001096/13 (ALFA)
                    -=0.000318/5 (TOMMO)
                    -=0.000701/88 (GnomAD)
                    -=0.009912/18 (Korea1K)
                    HGVS:
                    10.

                    rs1488085537 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      9:41129920 (GRCh38)
                      9:69203149 (GRCh37)
                      Canonical SPDI:
                      NC_000009.12:41129919:C:T
                      Gene:
                      FOXD4L6 (Varview)
                      Functional Consequence:
                      upstream_transcript_variant,2KB_upstream_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000008/2 (TOPMED)
                      HGVS:
                      11.

                      rs1487084637 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        9:41127285 (GRCh38)
                        9:69200514 (GRCh37)
                        Canonical SPDI:
                        NC_000009.12:41127284:G:A
                        Gene:
                        FOXD4L6 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000007/1 (GnomAD)
                        A=0.000011/3 (TOPMED)
                        A=0.000048/3 (GnomAD_exomes)
                        A=0.000177/3 (TOMMO)
                        A=0.000548/1 (Korea1K)
                        A=0.000692/2 (KOREAN)
                        HGVS:
                        12.

                        rs1486378805 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          9:41129502 (GRCh38)
                          9:69202731 (GRCh37)
                          Canonical SPDI:
                          NC_000009.12:41129501:T:C
                          Gene:
                          FOXD4L6 (Varview)
                          Functional Consequence:
                          upstream_transcript_variant,2KB_upstream_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          C=0.00008/1 (ALFA)
                          C=0.00015/3 (GnomAD)
                          HGVS:
                          13.

                          rs1486103246 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>C,G [Show Flanks]
                            Chromosome:
                            9:41130267 (GRCh38)
                            9:69203496 (GRCh37)
                            Canonical SPDI:
                            NC_000009.12:41130266:A:C,NC_000009.12:41130266:A:G
                            Gene:
                            FOXD4L6 (Varview)
                            Functional Consequence:
                            upstream_transcript_variant,2KB_upstream_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0.01349/191 (ALFA)
                            G=0.03453/1483 (GnomAD)
                            G=0.03611/65 (Korea1K)
                            G=0.05671/945 (TOMMO)
                            G=0.14885/415 (KOREAN)
                            A=0.5/17 (SGDP_PRJ)
                            HGVS:
                            14.

                            rs1485895504 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              TGATACCTCAGCAGGGCC>- [Show Flanks]
                              Chromosome:
                              9:41127123 (GRCh38)
                              9:69200352 (GRCh37)
                              Canonical SPDI:
                              NC_000009.12:41127119:GCCTGATACCTCAGCAGGGCC:GCC
                              Gene:
                              FOXD4L6 (Varview)
                              Functional Consequence:
                              inframe_indel,stop_lost,3_prime_UTR_variant,terminator_codon_variant
                              HGVS:
                              15.

                              rs1485540980 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                ->G [Show Flanks]
                                Chromosome:
                                9:41127885 (GRCh38)
                                9:69201115 (GRCh37)
                                Canonical SPDI:
                                NC_000009.12:41127885:G:GG
                                Gene:
                                FOXD4L6 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,frameshift_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                GG=0./0 (ALFA)
                                G=0.000004/1 (TOPMED)
                                HGVS:
                                16.

                                rs1485520660 [Homo sapiens]
                                  Variant type:
                                  DEL
                                  Alleles:
                                  ATT>- [Show Flanks]
                                  Chromosome:
                                  9:41126076 (GRCh38)
                                  9:69199305 (GRCh37)
                                  Canonical SPDI:
                                  NC_000009.12:41126075:ATT:
                                  Gene:
                                  LINC03025 (Varview), FOXD4L6 (Varview)
                                  Functional Consequence:
                                  upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant,2KB_upstream_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  -=0.01551/184 (ALFA)
                                  -=0.01734/290 (TOMMO)
                                  -=0.01833/11 (NorthernSweden)
                                  HGVS:
                                  17.

                                  rs1485397782 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G,T [Show Flanks]
                                    Chromosome:
                                    9:41129144 (GRCh38)
                                    9:69202373 (GRCh37)
                                    Canonical SPDI:
                                    NC_000009.12:41129143:A:G,NC_000009.12:41129143:A:T
                                    Gene:
                                    FOXD4L6 (Varview)
                                    Functional Consequence:
                                    upstream_transcript_variant,2KB_upstream_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    T=0./0 (ALFA)
                                    G=0.00001/1 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1484658768 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      9:41127567 (GRCh38)
                                      9:69200796 (GRCh37)
                                      Canonical SPDI:
                                      NC_000009.12:41127566:G:A
                                      Gene:
                                      FOXD4L6 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000008/1 (GnomAD)
                                      A=0.000019/5 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1484432939 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        ACAG>- [Show Flanks]
                                        Chromosome:
                                        9:41128775 (GRCh38)
                                        9:69202004 (GRCh37)
                                        Canonical SPDI:
                                        NC_000009.12:41128771:CAGACAG:CAG
                                        Gene:
                                        FOXD4L6 (Varview)
                                        Functional Consequence:
                                        upstream_transcript_variant,2KB_upstream_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        CAG=0./0 (ALFA)
                                        -=0.000015/4 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1484154669 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          9:41128701 (GRCh38)
                                          9:69201930 (GRCh37)
                                          Canonical SPDI:
                                          NC_000009.12:41128700:A:G
                                          Gene:
                                          FOXD4L6 (Varview)
                                          Functional Consequence:
                                          upstream_transcript_variant,2KB_upstream_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.00004/1 (GnomAD)
                                          HGVS:

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