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Links from Gene

Items: 1 to 20 of 868

1.

rs1491517008 [Homo sapiens]
    Variant type:
    SNV:
    Alleles:
    ->TCTCTCCCATTCTCTCCTCTCTCTGTCTCTC
    Chromosome:
    no mapping
    Canonical SPDI:
    2.

    rs1491118081 has merged into rs1424413830 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      AG>-,AGAG [Show Flanks]
      Chromosome:
      9:61854582 (GRCh38)
      9:44990734 (GRCh37)
      Canonical SPDI:
      NC_000009.12:61854580:GAG:G,NC_000009.12:61854580:GAG:GAGAG
      Gene:
      FAM27C (Varview), FAM27E4 (Varview)
      Functional Consequence:
      upstream_transcript_variant,2KB_upstream_variant,intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      GAGAG=0./0 (ALFA)
      -=0.0033/53 (TOMMO)
      -=0.01024/18 (Korea1K)
      HGVS:
      3.

      rs1490750962 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        T>- [Show Flanks]
        Chromosome:
        9:61852542 (GRCh38)
        9:44988694 (GRCh37)
        Canonical SPDI:
        NC_000009.12:61852541:TT:T
        Gene:
        FAM27C (Varview)
        Functional Consequence:
        upstream_transcript_variant,2KB_upstream_variant
        Validated:
        by frequency,by alfa
        MAF:
        TT=0./0 (ALFA)
        -=0.000004/1 (TOPMED)
        HGVS:
        4.

        rs1490682679 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          9:61854066 (GRCh38)
          9:44990218 (GRCh37)
          Canonical SPDI:
          NC_000009.12:61854065:G:A
          Gene:
          FAM27C (Varview), FAM27E4 (Varview)
          Functional Consequence:
          upstream_transcript_variant,2KB_upstream_variant
          Validated:
          by frequency,by alfa
          MAF:
          A=0./0 (ALFA)
          A=0.00005/7 (GnomAD)
          HGVS:
          5.

          rs1489866748 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>A,T [Show Flanks]
            Chromosome:
            9:61854238 (GRCh38)
            9:44990390 (GRCh37)
            Canonical SPDI:
            NC_000009.12:61854237:C:A,NC_000009.12:61854237:C:T
            Gene:
            FAM27C (Varview), FAM27E4 (Varview)
            Functional Consequence:
            upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            A=0.000004/1 (TOPMED)
            T=0.000031/4 (GnomAD)
            HGVS:
            6.

            rs1487663324 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              9:61854727 (GRCh38)
              9:44990879 (GRCh37)
              Canonical SPDI:
              NC_000009.12:61854726:G:A
              Gene:
              FAM27C (Varview), FAM27E4 (Varview)
              Functional Consequence:
              upstream_transcript_variant,intron_variant,2KB_upstream_variant
              Validated:
              by frequency,by alfa
              MAF:
              A=0./0 (ALFA)
              HGVS:
              7.

              rs1487232639 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>G [Show Flanks]
                Chromosome:
                9:61855682 (GRCh38)
                9:44991834 (GRCh37)
                Canonical SPDI:
                NC_000009.12:61855681:T:G
                Gene:
                FAM27C (Varview), FAM27E4 (Varview)
                Functional Consequence:
                500B_downstream_variant,downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
                Validated:
                by frequency,by alfa
                MAF:
                G=0.34193/4056 (ALFA)
                HGVS:
                8.

                rs1487049413 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>C,T [Show Flanks]
                  Chromosome:
                  9:61854765 (GRCh38)
                  9:44990917 (GRCh37)
                  Canonical SPDI:
                  NC_000009.12:61854764:G:C,NC_000009.12:61854764:G:T
                  Gene:
                  FAM27C (Varview), FAM27E4 (Varview)
                  Functional Consequence:
                  upstream_transcript_variant,intron_variant,2KB_upstream_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0.00043/7 (ALFA)
                  C=0.00016/4 (TOMMO)
                  C=0.00824/24 (KOREAN)
                  HGVS:
                  9.

                  rs1486553498 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>A,C [Show Flanks]
                    Chromosome:
                    9:61854820 (GRCh38)
                    9:44990972 (GRCh37)
                    Canonical SPDI:
                    NC_000009.12:61854819:T:A,NC_000009.12:61854819:T:C
                    Gene:
                    FAM27C (Varview), FAM27E4 (Varview)
                    Functional Consequence:
                    upstream_transcript_variant,intron_variant,2KB_upstream_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0.00208/34 (ALFA)
                    C=0.00764/22 (KOREAN)
                    HGVS:
                    10.

                    rs1486020336 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      9:61855563 (GRCh38)
                      9:44991715 (GRCh37)
                      Canonical SPDI:
                      NC_000009.12:61855562:C:T
                      Gene:
                      FAM27C (Varview), FAM27E4 (Varview)
                      Functional Consequence:
                      500B_downstream_variant,downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      T=0.33603/3986 (ALFA)
                      HGVS:
                      11.

                      rs1484808578 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        9:61852313 (GRCh38)
                        9:44988465 (GRCh37)
                        Canonical SPDI:
                        NC_000009.12:61852312:A:G
                        Gene:
                        FAM27C (Varview)
                        Functional Consequence:
                        upstream_transcript_variant,2KB_upstream_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        G=0.000084/1 (ALFA)
                        G=0.000038/5 (GnomAD)
                        HGVS:
                        12.

                        rs1484610343 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          9:61854380 (GRCh38)
                          9:44990532 (GRCh37)
                          Canonical SPDI:
                          NC_000009.12:61854379:A:G
                          Gene:
                          FAM27C (Varview), FAM27E4 (Varview)
                          Functional Consequence:
                          upstream_transcript_variant,intron_variant,2KB_upstream_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0.11024/1482 (ALFA)
                          G=0.03919/251 (1000Genomes)
                          G=0.08478/6368 (GnomAD)
                          G=0.12176/2041 (TOMMO)
                          A=0.5/1 (SGDP_PRJ)
                          HGVS:
                          13.

                          rs1483733429 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            CTCTGTGTGTGTGTGTGTGTGT>- [Show Flanks]
                            Chromosome:
                            9:61854555 (GRCh38)
                            9:44990707 (GRCh37)
                            Canonical SPDI:
                            NC_000009.12:61854543:TGTGTGTGTGTCTCTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGT
                            Gene:
                            FAM27C (Varview), FAM27E4 (Varview)
                            Functional Consequence:
                            upstream_transcript_variant,intron_variant,2KB_upstream_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            TGTGTGTGTGT=0.00059/7 (ALFA)
                            -=0.00054/47 (GnomAD)
                            HGVS:
                            14.

                            rs1483609396 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A,C,T [Show Flanks]
                              Chromosome:
                              9:61854298 (GRCh38)
                              9:44990450 (GRCh37)
                              Canonical SPDI:
                              NC_000009.12:61854297:G:A,NC_000009.12:61854297:G:C,NC_000009.12:61854297:G:T
                              Gene:
                              FAM27C (Varview), FAM27E4 (Varview)
                              Functional Consequence:
                              upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              A=0.0025/4 (Korea1K)
                              C=0.0628/554 (TOMMO)
                              A=0.125/2 (SGDP_PRJ)
                              C=0.2357/568 (KOREAN)
                              C=0.3436/771 (GnomAD_exomes)
                              HGVS:
                              15.

                              rs1483201289 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                9:61853758 (GRCh38)
                                9:44989910 (GRCh37)
                                Canonical SPDI:
                                NC_000009.12:61853757:C:T
                                Gene:
                                FAM27C (Varview)
                                Functional Consequence:
                                upstream_transcript_variant,2KB_upstream_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0.0016/19 (ALFA)
                                T=0.00144/77 (GnomAD)
                                T=0.00422/27 (1000Genomes)
                                HGVS:
                                16.

                                rs1482879433 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  9:61852146 (GRCh38)
                                  9:44988298 (GRCh37)
                                  Canonical SPDI:
                                  NC_000009.12:61852145:T:C
                                  Gene:
                                  FAM27C (Varview)
                                  Functional Consequence:
                                  upstream_transcript_variant,2KB_upstream_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  C=0.000084/1 (ALFA)
                                  C=0.000033/4 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1482746373 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>C [Show Flanks]
                                    Chromosome:
                                    9:61853931 (GRCh38)
                                    9:44990083 (GRCh37)
                                    Canonical SPDI:
                                    NC_000009.12:61853930:G:C
                                    Gene:
                                    FAM27C (Varview), FAM27E4 (Varview)
                                    Functional Consequence:
                                    upstream_transcript_variant,2KB_upstream_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000032/4 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1482138493 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>G,T [Show Flanks]
                                      Chromosome:
                                      9:61854214 (GRCh38)
                                      9:44990366 (GRCh37)
                                      Canonical SPDI:
                                      NC_000009.12:61854213:C:G,NC_000009.12:61854213:C:T
                                      Gene:
                                      FAM27C (Varview), FAM27E4 (Varview)
                                      Functional Consequence:
                                      upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0.003/49 (ALFA)
                                      C=0./0 (SGDP_PRJ)
                                      G=0.00112/2 (Korea1K)
                                      T=0.02411/404 (TOMMO)
                                      T=0.02513/70 (KOREAN)
                                      HGVS:
                                      19.

                                      rs1481234457 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        9:61854105 (GRCh38)
                                        9:44990257 (GRCh37)
                                        Canonical SPDI:
                                        NC_000009.12:61854104:G:A
                                        Gene:
                                        FAM27C (Varview), FAM27E4 (Varview)
                                        Functional Consequence:
                                        upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000014/2 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1481208244 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>C [Show Flanks]
                                          Chromosome:
                                          9:61852852 (GRCh38)
                                          9:44989004 (GRCh37)
                                          Canonical SPDI:
                                          NC_000009.12:61852851:G:C
                                          Gene:
                                          FAM27C (Varview)
                                          Functional Consequence:
                                          upstream_transcript_variant,2KB_upstream_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          C=0.00008/1 (ALFA)
                                          HGVS:

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