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Links from Gene

Items: 1 to 20 of 1000

1.

rs1490946179 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    16:67236745 (GRCh38)
    16:67270648 (GRCh37)
    Canonical SPDI:
    NC_000016.10:67236744:G:A
    Gene:
    FHOD1 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    A=0./0 (ALFA)
    A=0.000004/1 (TOPMED)
    HGVS:
    2.

    rs1490899102 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      16:67236463 (GRCh38)
      16:67270366 (GRCh37)
      Canonical SPDI:
      NC_000016.10:67236462:T:C
      Gene:
      FHOD1 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency
      MAF:
      C=0.000007/1 (GnomAD_exomes)
      HGVS:
      3.

      rs1490871818 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>C [Show Flanks]
        Chromosome:
        16:67237221 (GRCh38)
        16:67271124 (GRCh37)
        Canonical SPDI:
        NC_000016.10:67237220:G:C
        Gene:
        FHOD1 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0./0 (ALFA)
        C=0.000004/1 (TOPMED)
        C=0.000016/4 (GnomAD_exomes)
        HGVS:
        4.

        rs1490407829 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>A,T [Show Flanks]
          Chromosome:
          16:67246548 (GRCh38)
          16:67280451 (GRCh37)
          Canonical SPDI:
          NC_000016.10:67246547:C:A,NC_000016.10:67246547:C:T
          Gene:
          FHOD1 (Varview)
          Functional Consequence:
          upstream_transcript_variant,5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          T=0./0 (ALFA)
          T=0.000015/4 (TOPMED)
          HGVS:
          5.

          rs1490237003 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A,T [Show Flanks]
            Chromosome:
            16:67241987 (GRCh38)
            16:67275890 (GRCh37)
            Canonical SPDI:
            NC_000016.10:67241986:G:A,NC_000016.10:67241986:G:T
            Gene:
            FHOD1 (Varview)
            Functional Consequence:
            intron_variant,genic_upstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0.001296/24 (ALFA)
            A=0.000007/1 (GnomAD)
            A=0.000008/2 (TOPMED)
            HGVS:
            6.

            rs1490201326 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A,T [Show Flanks]
              Chromosome:
              16:67235501 (GRCh38)
              16:67269404 (GRCh37)
              Canonical SPDI:
              NC_000016.10:67235500:G:A,NC_000016.10:67235500:G:T
              Gene:
              FHOD1 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              T=0./0 (ALFA)
              A=0.000015/2 (GnomAD)
              HGVS:
              7.

              rs1490119238 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>C [Show Flanks]
                Chromosome:
                16:67244619 (GRCh38)
                16:67278522 (GRCh37)
                Canonical SPDI:
                NC_000016.10:67244618:G:C
                Gene:
                FHOD1 (Varview)
                Functional Consequence:
                intron_variant,genic_upstream_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                C=0./0 (ALFA)
                HGVS:
                8.

                rs1490082942 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>C [Show Flanks]
                  Chromosome:
                  16:67234355 (GRCh38)
                  16:67268258 (GRCh37)
                  Canonical SPDI:
                  NC_000016.10:67234354:A:C
                  Gene:
                  FHOD1 (Varview)
                  Functional Consequence:
                  splice_donor_variant
                  HGVS:
                  9.

                  rs1489934001 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>A,T [Show Flanks]
                    Chromosome:
                    16:67245042 (GRCh38)
                    16:67278945 (GRCh37)
                    Canonical SPDI:
                    NC_000016.10:67245041:C:A,NC_000016.10:67245041:C:T
                    Gene:
                    FHOD1 (Varview)
                    Functional Consequence:
                    intron_variant,genic_upstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    A=0.000007/1 (GnomAD)
                    HGVS:
                    10.

                    rs1489919722 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      16:67246170 (GRCh38)
                      16:67280073 (GRCh37)
                      Canonical SPDI:
                      NC_000016.10:67246169:G:A
                      Gene:
                      FHOD1 (Varview)
                      Functional Consequence:
                      5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000008/2 (TOPMED)
                      A=0.000021/3 (GnomAD)
                      HGVS:
                      11.

                      rs1489916221 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>G,T [Show Flanks]
                        Chromosome:
                        16:67241413 (GRCh38)
                        16:67275316 (GRCh37)
                        Canonical SPDI:
                        NC_000016.10:67241412:C:G,NC_000016.10:67241412:C:T
                        Gene:
                        FHOD1 (Varview)
                        Functional Consequence:
                        intron_variant,genic_upstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000021/3 (GnomAD)
                        T=0.000156/1 (1000Genomes)
                        T=0.000546/1 (Korea1K)
                        T=0.001097/18 (TOMMO)
                        HGVS:
                        12.

                        rs1489736973 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          16:67232005 (GRCh38)
                          16:67265908 (GRCh37)
                          Canonical SPDI:
                          NC_000016.10:67232004:C:T
                          Gene:
                          FHOD1 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency
                          MAF:
                          T=0.000008/2 (GnomAD_exomes)
                          HGVS:
                          13.

                          rs1489547480 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            GA>- [Show Flanks]
                            Chromosome:
                            16:67242908 (GRCh38)
                            16:67276811 (GRCh37)
                            Canonical SPDI:
                            NC_000016.10:67242906:AGA:A
                            Gene:
                            FHOD1 (Varview)
                            Functional Consequence:
                            intron_variant,genic_upstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0.000071/1 (ALFA)
                            -=0.000007/1 (GnomAD)
                            -=0.000008/2 (TOPMED)
                            HGVS:
                            14.

                            rs1489525987 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>A,T [Show Flanks]
                              Chromosome:
                              16:67247909 (GRCh38)
                              16:67281812 (GRCh37)
                              Canonical SPDI:
                              NC_000016.10:67247908:C:A,NC_000016.10:67247908:C:T
                              Gene:
                              SLC9A5 (Varview), FHOD1 (Varview)
                              Functional Consequence:
                              2KB_upstream_variant,upstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              HGVS:
                              15.

                              rs1489516293 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                16:67245614 (GRCh38)
                                16:67279517 (GRCh37)
                                Canonical SPDI:
                                NC_000016.10:67245613:G:A
                                Gene:
                                FHOD1 (Varview)
                                Functional Consequence:
                                5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0.000054/1 (ALFA)
                                A=0.000007/1 (GnomAD)
                                A=0.000223/1 (Estonian)
                                HGVS:
                                16.

                                rs1489331497 has merged into rs940547381 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  C>-,CC [Show Flanks]
                                  Chromosome:
                                  16:67244062 (GRCh38)
                                  16:67277965 (GRCh37)
                                  Canonical SPDI:
                                  NC_000016.10:67244061:CCCC:CCC,NC_000016.10:67244061:CCCC:CCCCC
                                  Gene:
                                  FHOD1 (Varview)
                                  Functional Consequence:
                                  genic_upstream_transcript_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  CCCCC=0./0 (ALFA)
                                  -=0./0 (GnomAD)
                                  HGVS:
                                  18.

                                  rs1489151450 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    16:67235512 (GRCh38)
                                    16:67269415 (GRCh37)
                                    Canonical SPDI:
                                    NC_000016.10:67235511:C:T
                                    Gene:
                                    FHOD1 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000023/3 (GnomAD)
                                    T=0.000038/10 (TOPMED)
                                    HGVS:
                                    20.

                                    rs1488853456 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      16:67235428 (GRCh38)
                                      16:67269331 (GRCh37)
                                      Canonical SPDI:
                                      NC_000016.10:67235427:G:A
                                      Gene:
                                      FHOD1 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000021/3 (GnomAD)
                                      A=0.00003/8 (TOPMED)
                                      HGVS:

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