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Links from Gene

Items: 1 to 20 of 1388

1.

rs1491454315 has merged into rs11424825 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA [Show Flanks]
    Chromosome:
    17:82715068 (GRCh38)
    17:80672944 (GRCh37)
    Canonical SPDI:
    NC_000017.11:82715054:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:82715054:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:82715054:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:82715054:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:82715054:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:82715054:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:82715054:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:82715054:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:82715054:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:82715054:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:82715054:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
    Gene:
    FN3KRP (Varview), LOC101929552 (Varview)
    Functional Consequence:
    upstream_transcript_variant,2KB_upstream_variant,intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    AAAAAAAAAAAAAAA=0./0 (ALFA)
    AA=0.1853/928 (1000Genomes)
    HGVS:
    2.

    rs1491137806 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      CA>- [Show Flanks]
      Chromosome:
      17:82715054 (GRCh38)
      17:80672930 (GRCh37)
      Canonical SPDI:
      NC_000017.11:82715053:CA:
      Gene:
      FN3KRP (Varview), LOC101929552 (Varview)
      Functional Consequence:
      2KB_upstream_variant,upstream_transcript_variant,intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      -=0.00067/8 (ALFA)
      -=0.00042/4 (GnomAD)
      HGVS:
      3.

      rs1490970808 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>G,T [Show Flanks]
        Chromosome:
        17:82715452 (GRCh38)
        17:80673328 (GRCh37)
        Canonical SPDI:
        NC_000017.11:82715451:C:G,NC_000017.11:82715451:C:T
        Gene:
        FN3KRP (Varview), LOC101929552 (Varview)
        Functional Consequence:
        2KB_upstream_variant,upstream_transcript_variant,intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        T=0.000007/1 (GnomAD)
        HGVS:
        4.

        rs1490864125 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          17:82718236 (GRCh38)
          17:80676112 (GRCh37)
          Canonical SPDI:
          NC_000017.11:82718235:C:T
          Gene:
          FN3KRP (Varview), LOC101929552 (Varview)
          Functional Consequence:
          2KB_upstream_variant,upstream_transcript_variant,intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0.00171/28 (ALFA)
          T=0.00043/7 (TOMMO)
          T=0.00078/5 (1000Genomes)
          T=0.00164/3 (Korea1K)
          T=0.00625/28 (Estonian)
          T=0.01095/32 (KOREAN)
          HGVS:
          5.

          rs1490653444 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A,T [Show Flanks]
            Chromosome:
            17:82716764 (GRCh38)
            17:80674640 (GRCh37)
            Canonical SPDI:
            NC_000017.11:82716763:G:A,NC_000017.11:82716763:G:T
            Gene:
            FN3KRP (Varview), LOC101929552 (Varview)
            Functional Consequence:
            coding_sequence_variant,2KB_upstream_variant,non_coding_transcript_variant,synonymous_variant,missense_variant,upstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            T=0.000004/1 (TOPMED)
            HGVS:
            6.

            rs1490481177 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              17:82715924 (GRCh38)
              17:80673800 (GRCh37)
              Canonical SPDI:
              NC_000017.11:82715923:G:A
              Gene:
              FN3KRP (Varview), LOC101929552 (Varview)
              Functional Consequence:
              2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0./0 (ALFA)
              A=0.000011/3 (TOPMED)
              A=0.000021/3 (GnomAD)
              HGVS:
              7.

              rs1490377162 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                17:82717445 (GRCh38)
                17:80675321 (GRCh37)
                Canonical SPDI:
                NC_000017.11:82717444:C:T
                Gene:
                FN3KRP (Varview), LOC101929552 (Varview)
                Functional Consequence:
                2KB_upstream_variant,upstream_transcript_variant,intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                T=0.000004/1 (TOPMED)
                T=0.000021/3 (GnomAD)
                HGVS:
                8.

                rs1489549560 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>G,T [Show Flanks]
                  Chromosome:
                  17:82713768 (GRCh38)
                  17:80671644 (GRCh37)
                  Canonical SPDI:
                  NC_000017.11:82713767:C:G,NC_000017.11:82713767:C:T
                  Gene:
                  LOC101929552 (Varview)
                  Functional Consequence:
                  downstream_transcript_variant,500B_downstream_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000008/2 (TOPMED)
                  HGVS:
                  9.

                  rs1488845657 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    17:82713789 (GRCh38)
                    17:80671665 (GRCh37)
                    Canonical SPDI:
                    NC_000017.11:82713788:T:C
                    Gene:
                    LOC101929552 (Varview)
                    Functional Consequence:
                    downstream_transcript_variant,500B_downstream_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    C=0./0 (ALFA)
                    HGVS:
                    10.

                    rs1488635055 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      17:82714079 (GRCh38)
                      17:80671955 (GRCh37)
                      Canonical SPDI:
                      NC_000017.11:82714078:A:G
                      Gene:
                      LOC101929552 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000004/1 (TOPMED)
                      G=0.000007/1 (GnomAD)
                      HGVS:
                      11.

                      rs1487233348 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A,C [Show Flanks]
                        Chromosome:
                        17:82714393 (GRCh38)
                        17:80672269 (GRCh37)
                        Canonical SPDI:
                        NC_000017.11:82714392:G:A,NC_000017.11:82714392:G:C
                        Gene:
                        LOC101929552 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000004/1 (TOPMED)
                        C=0.000008/1 (GnomAD)
                        HGVS:
                        12.

                        rs1487119345 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          17:82718091 (GRCh38)
                          17:80675967 (GRCh37)
                          Canonical SPDI:
                          NC_000017.11:82718090:G:A
                          Gene:
                          FN3KRP (Varview), LOC101929552 (Varview)
                          Functional Consequence:
                          2KB_upstream_variant,upstream_transcript_variant,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:
                          13.

                          rs1486654765 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            17:82717805 (GRCh38)
                            17:80675681 (GRCh37)
                            Canonical SPDI:
                            NC_000017.11:82717804:C:T
                            Gene:
                            FN3KRP (Varview), LOC101929552 (Varview)
                            Functional Consequence:
                            2KB_upstream_variant,upstream_transcript_variant,intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000007/1 (GnomAD)
                            T=0.000011/3 (TOPMED)
                            HGVS:
                            14.

                            rs1485750445 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              GTGTGTCTGTATATGTTGTGTGTGTGTGTT>- [Show Flanks]
                              Chromosome:
                              17:82718159 (GRCh38)
                              17:80676035 (GRCh37)
                              Canonical SPDI:
                              NC_000017.11:82718146:TGTGTGTGTGTTGTGTGTCTGTATATGTTGTGTGTGTGTGTT:TGTGTGTGTGTT
                              Gene:
                              FN3KRP (Varview), LOC101929552 (Varview)
                              Functional Consequence:
                              2KB_upstream_variant,upstream_transcript_variant,intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              TGTGTGTGTGTT=0./0 (ALFA)
                              -=0.000011/3 (TOPMED)
                              HGVS:
                              15.

                              rs1485488738 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                17:82717799 (GRCh38)
                                17:80675675 (GRCh37)
                                Canonical SPDI:
                                NC_000017.11:82717798:G:A
                                Gene:
                                FN3KRP (Varview), LOC101929552 (Varview)
                                Functional Consequence:
                                2KB_upstream_variant,upstream_transcript_variant,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:
                                16.

                                rs1485402694 [Homo sapiens]
                                  Variant type:
                                  SNV:
                                  Alleles:
                                  GAGACGGAG>-
                                  Chromosome:
                                  no mapping
                                  Canonical SPDI:
                                  17.

                                  rs1485151075 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    GT>-,GTGT [Show Flanks]
                                    Chromosome:
                                    17:82718203 (GRCh38)
                                    17:80676079 (GRCh37)
                                    Canonical SPDI:
                                    NC_000017.11:82718195:TGTGTGTGT:TGTGTGT,NC_000017.11:82718195:TGTGTGTGT:TGTGTGTGTGT
                                    Gene:
                                    FN3KRP (Varview), LOC101929552 (Varview)
                                    Functional Consequence:
                                    2KB_upstream_variant,upstream_transcript_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    TGTGTGTGTGT=0./0 (ALFA)
                                    -=0.00001/1 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1485099428 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>G,T [Show Flanks]
                                      Chromosome:
                                      17:82717441 (GRCh38)
                                      17:80675317 (GRCh37)
                                      Canonical SPDI:
                                      NC_000017.11:82717440:C:G,NC_000017.11:82717440:C:T
                                      Gene:
                                      FN3KRP (Varview), LOC101929552 (Varview)
                                      Functional Consequence:
                                      2KB_upstream_variant,upstream_transcript_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000007/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1484884792 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A,T [Show Flanks]
                                        Chromosome:
                                        17:82713712 (GRCh38)
                                        17:80671588 (GRCh37)
                                        Canonical SPDI:
                                        NC_000017.11:82713711:G:A,NC_000017.11:82713711:G:T
                                        Gene:
                                        LOC101929552 (Varview)
                                        Functional Consequence:
                                        downstream_transcript_variant,500B_downstream_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0.000972/18 (ALFA)
                                        T=0.000004/1 (TOPMED)
                                        A=0.000135/19 (GnomAD)
                                        A=0.004241/19 (Estonian)
                                        HGVS:
                                        20.

                                        rs1484223531 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          17:82715563 (GRCh38)
                                          17:80673439 (GRCh37)
                                          Canonical SPDI:
                                          NC_000017.11:82715562:G:A
                                          Gene:
                                          FN3KRP (Varview), LOC101929552 (Varview)
                                          Functional Consequence:
                                          2KB_upstream_variant,upstream_transcript_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0.000071/1 (ALFA)
                                          A=0.000015/4 (TOPMED)
                                          A=0.000029/4 (GnomAD)
                                          A=0.000546/1 (Korea1K)
                                          HGVS:

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