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Links from Gene

Items: 1 to 20 of 1000

1.

rs1491538184 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    CA>- [Show Flanks]
    Chromosome:
    19:5840323 (GRCh38)
    19:5840334 (GRCh37)
    Canonical SPDI:
    NC_000019.10:5840322:CA:
    Gene:
    FUT6 (Varview)
    Functional Consequence:
    2KB_upstream_variant,upstream_transcript_variant
    Validated:
    by frequency,by alfa
    MAF:
    -=0.00464/55 (ALFA)
    -=0.00172/48 (TOMMO)
    HGVS:
    2.

    rs1490960964 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      T>- [Show Flanks]
      Chromosome:
      19:5836656 (GRCh38)
      19:5836667 (GRCh37)
      Canonical SPDI:
      NC_000019.10:5836655:T:
      Gene:
      FUT6 (Varview)
      Functional Consequence:
      upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      -=0./0 (ALFA)
      -=0.000019/5 (TOPMED)
      -=0.000029/4 (GnomAD)
      HGVS:
      3.

      rs1490905161 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        19:5837722 (GRCh38)
        19:5837733 (GRCh37)
        Canonical SPDI:
        NC_000019.10:5837721:C:T
        Gene:
        FUT6 (Varview)
        Functional Consequence:
        intron_variant,genic_upstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        T=0.000011/3 (TOPMED)
        T=0.000014/2 (GnomAD)
        HGVS:
        4.

        rs1490772503 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>A [Show Flanks]
          Chromosome:
          19:5837649 (GRCh38)
          19:5837660 (GRCh37)
          Canonical SPDI:
          NC_000019.10:5837648:C:A
          Gene:
          FUT6 (Varview)
          Functional Consequence:
          intron_variant,genic_upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.000007/1 (GnomAD)
          A=0.000008/2 (TOPMED)
          HGVS:
          5.

          rs1490622093 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            GGGACCGATAGGAGGGAGAATAGGCAGGCG>- [Show Flanks]
            Chromosome:
            19:5834266 (GRCh38)
            19:5834277 (GRCh37)
            Canonical SPDI:
            NC_000019.10:5834264:GGGGACCGATAGGAGGGAGAATAGGCAGGCG:G
            Gene:
            FUT6 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by cluster
            MAF:
            -=0.00004/1 (TOMMO)
            -=0.00408/33 (GnomAD)
            HGVS:
            6.

            rs1490606402 [Homo sapiens]
              Variant type:
              DEL
              Alleles:
              AAAAA>- [Show Flanks]
              Chromosome:
              19:5836534 (GRCh38)
              19:5836545 (GRCh37)
              Canonical SPDI:
              NC_000019.10:5836533:AAAAA:
              Gene:
              FUT6 (Varview)
              Functional Consequence:
              upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              -=0./0 (ALFA)
              -=0.000007/1 (GnomAD)
              HGVS:
              7.

              rs1490275807 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                19:5838514 (GRCh38)
                19:5838525 (GRCh37)
                Canonical SPDI:
                NC_000019.10:5838513:C:T
                Gene:
                FUT6 (Varview)
                Functional Consequence:
                intron_variant,genic_upstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                T=0.000008/2 (TOPMED)
                T=0.000036/5 (GnomAD)
                HGVS:
                8.

                rs1490210109 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>G [Show Flanks]
                  Chromosome:
                  19:5840354 (GRCh38)
                  19:5840365 (GRCh37)
                  Canonical SPDI:
                  NC_000019.10:5840353:T:G
                  Gene:
                  FUT6 (Varview)
                  Functional Consequence:
                  2KB_upstream_variant,upstream_transcript_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000007/1 (GnomAD)
                  HGVS:
                  9.

                  rs1490033921 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G,T [Show Flanks]
                    Chromosome:
                    19:5830330 (GRCh38)
                    19:5830341 (GRCh37)
                    Canonical SPDI:
                    NC_000019.10:5830329:A:G,NC_000019.10:5830329:A:T
                    Gene:
                    FUT6 (Varview)
                    Functional Consequence:
                    downstream_transcript_variant,500B_downstream_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    G=0.000007/1 (GnomAD)
                    G=0.000011/3 (TOPMED)
                    HGVS:
                    10.

                    rs1489764155 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C,G [Show Flanks]
                      Chromosome:
                      19:5836231 (GRCh38)
                      19:5836242 (GRCh37)
                      Canonical SPDI:
                      NC_000019.10:5836230:T:C,NC_000019.10:5836230:T:G
                      Gene:
                      FUT6 (Varview)
                      Functional Consequence:
                      upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0./0 (ALFA)
                      C=0.01095/32 (KOREAN)
                      T=0.5/1 (SGDP_PRJ)
                      HGVS:
                      11.

                      rs1489735570 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>T [Show Flanks]
                        Chromosome:
                        19:5837308 (GRCh38)
                        19:5837319 (GRCh37)
                        Canonical SPDI:
                        NC_000019.10:5837307:G:T
                        Gene:
                        FUT6 (Varview)
                        Functional Consequence:
                        upstream_transcript_variant,intron_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:
                        12.

                        rs1489500502 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>G,T [Show Flanks]
                          Chromosome:
                          19:5833443 (GRCh38)
                          19:5833454 (GRCh37)
                          Canonical SPDI:
                          NC_000019.10:5833442:C:G,NC_000019.10:5833442:C:T
                          Gene:
                          FUT6 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0.000324/6 (ALFA)
                          T=0.000004/1 (TOPMED)
                          T=0.000015/2 (GnomAD)
                          G=0.000354/6 (TOMMO)
                          G=0.001339/6 (Estonian)
                          HGVS:
                          13.

                          rs1489495723 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>G [Show Flanks]
                            Chromosome:
                            19:5832819 (GRCh38)
                            19:5832830 (GRCh37)
                            Canonical SPDI:
                            NC_000019.10:5832818:C:G
                            Gene:
                            FUT6 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000029/4 (GnomAD)
                            G=0.01/6 (NorthernSweden)
                            HGVS:
                            14.

                            rs1489324296 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              19:5841602 (GRCh38)
                              19:5841613 (GRCh37)
                              Canonical SPDI:
                              NC_000019.10:5841601:C:T
                              Gene:
                              FUT6 (Varview)
                              Functional Consequence:
                              2KB_upstream_variant,upstream_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              T=0./0 (ALFA)
                              HGVS:
                              15.

                              rs1489252152 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                19:5834490 (GRCh38)
                                19:5834501 (GRCh37)
                                Canonical SPDI:
                                NC_000019.10:5834489:G:A
                                Gene:
                                FUT6 (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:
                                16.

                                rs1489130492 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  19:5831742 (GRCh38)
                                  19:5831753 (GRCh37)
                                  Canonical SPDI:
                                  NC_000019.10:5831741:T:C
                                  Gene:
                                  FUT6 (Varview)
                                  Functional Consequence:
                                  missense_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000004/1 (TOPMED)
                                  C=0.000007/1 (GnomAD)
                                  HGVS:
                                  NC_000019.10:g.5831742T>C, NC_000019.9:g.5831753T>C, NG_007505.1:g.12990A>G, NM_000150.4:c.826A>G, NM_000150.3:c.826A>G, NM_000150.2:c.826A>G, NM_001040701.2:c.826A>G, NM_001040701.1:c.826A>G, NM_001369505.1:c.826A>G, NM_001369504.1:c.826A>G, NM_001381956.1:c.826A>G, NM_001381958.1:c.826A>G, NM_001381955.1:c.826A>G, NM_001369502.1:c.826A>G, NM_001381959.1:c.826A>G, NM_001381957.1:c.826A>G, NW_025791810.1:g.5345T>C, XM_047438555.1:c.826A>G, XM_047438558.1:c.826A>G, XM_047438561.1:c.826A>G, XM_047438556.1:c.826A>G, XM_047438557.1:c.826A>G, XM_047438560.1:c.826A>G, XM_047438559.1:c.826A>G, XM_047438553.1:c.826A>G, XM_047438554.1:c.826A>G, NP_000141.1:p.Ser276Gly, NP_001035791.1:p.Ser276Gly, NP_001356434.1:p.Ser276Gly, NP_001356433.1:p.Ser276Gly, NP_001368885.1:p.Ser276Gly, NP_001368887.1:p.Ser276Gly, NP_001368884.1:p.Ser276Gly, NP_001356431.1:p.Ser276Gly, NP_001368888.1:p.Ser276Gly, NP_001368886.1:p.Ser276Gly, XP_047294511.1:p.Ser276Gly, XP_047294514.1:p.Ser276Gly, XP_047294517.1:p.Ser276Gly, XP_047294512.1:p.Ser276Gly, XP_047294513.1:p.Ser276Gly, XP_047294516.1:p.Ser276Gly, XP_047294515.1:p.Ser276Gly, XP_047294509.1:p.Ser276Gly, XP_047294510.1:p.Ser276Gly
                                  17.

                                  rs1488827934 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>A,T [Show Flanks]
                                    Chromosome:
                                    19:5840570 (GRCh38)
                                    19:5840581 (GRCh37)
                                    Canonical SPDI:
                                    NC_000019.10:5840569:C:A,NC_000019.10:5840569:C:T
                                    Gene:
                                    FUT6 (Varview)
                                    Functional Consequence:
                                    2KB_upstream_variant,upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    A=0.00137/4 (KOREAN)
                                    A=0.00212/36 (TOMMO)
                                    HGVS:
                                    18.

                                    rs1488816674 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>G,T [Show Flanks]
                                      Chromosome:
                                      19:5835201 (GRCh38)
                                      19:5835212 (GRCh37)
                                      Canonical SPDI:
                                      NC_000019.10:5835200:C:G,NC_000019.10:5835200:C:T
                                      Gene:
                                      FUT6 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      HGVS:
                                      19.

                                      rs1488781933 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        19:5835872 (GRCh38)
                                        19:5835883 (GRCh37)
                                        Canonical SPDI:
                                        NC_000019.10:5835871:G:A
                                        Gene:
                                        FUT6 (Varview)
                                        Functional Consequence:
                                        upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.00014/2 (TOMMO)
                                        HGVS:
                                        20.

                                        rs1488751624 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>G [Show Flanks]
                                          Chromosome:
                                          19:5836750 (GRCh38)
                                          19:5836761 (GRCh37)
                                          Canonical SPDI:
                                          NC_000019.10:5836749:C:G
                                          Gene:
                                          FUT6 (Varview)
                                          Functional Consequence:
                                          upstream_transcript_variant,intron_variant,genic_upstream_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:

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