U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from Gene

Items: 1 to 20 of 824

1.

rs1490833229 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>T [Show Flanks]
    Chromosome:
    6:144095177 (GRCh38)
    6:144416314 (GRCh37)
    Canonical SPDI:
    NC_000006.12:144095176:A:T
    Gene:
    SF3B5 (Varview)
    Functional Consequence:
    3_prime_UTR_variant
    Validated:
    by frequency,by alfa
    MAF:
    T=0./0 (ALFA)
    T=0.000007/1 (GnomAD)
    HGVS:
    2.

    rs1490639013 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      6:144096719 (GRCh38)
      6:144417856 (GRCh37)
      Canonical SPDI:
      NC_000006.12:144096718:C:T
      Gene:
      SF3B5 (Varview)
      Functional Consequence:
      2KB_upstream_variant,upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0.000671/3 (ALFA)
      T=0.000014/2 (GnomAD)
      T=0.00067/3 (Estonian)
      HGVS:
      3.

      rs1489223051 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>G [Show Flanks]
        Chromosome:
        6:144097021 (GRCh38)
        6:144418158 (GRCh37)
        Canonical SPDI:
        NC_000006.12:144097020:T:G
        Gene:
        SF3B5 (Varview)
        Functional Consequence:
        2KB_upstream_variant,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:
        4.

        rs1489007795 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C,G [Show Flanks]
          Chromosome:
          6:144096679 (GRCh38)
          6:144417816 (GRCh37)
          Canonical SPDI:
          NC_000006.12:144096678:T:C,NC_000006.12:144096678:T:G
          Gene:
          SF3B5 (Varview)
          Functional Consequence:
          2KB_upstream_variant,upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0./0 (ALFA)
          HGVS:
          5.

          rs1488547145 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>T [Show Flanks]
            Chromosome:
            6:144095958 (GRCh38)
            6:144417095 (GRCh37)
            Canonical SPDI:
            NC_000006.12:144095957:G:T
            Gene:
            SF3B5 (Varview)
            Functional Consequence:
            2KB_upstream_variant,upstream_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            T=0./0 (ALFA)
            T=0.000004/1 (TOPMED)
            HGVS:
            6.

            rs1488517113 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>A [Show Flanks]
              Chromosome:
              6:144096988 (GRCh38)
              6:144418125 (GRCh37)
              Canonical SPDI:
              NC_000006.12:144096987:T:A
              Gene:
              SF3B5 (Varview)
              Functional Consequence:
              2KB_upstream_variant,upstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0./0 (ALFA)
              A=0.000004/1 (TOPMED)
              A=0.000007/1 (GnomAD)
              HGVS:
              7.

              rs1488383318 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                6:144096527 (GRCh38)
                6:144417664 (GRCh37)
                Canonical SPDI:
                NC_000006.12:144096526:C:T
                Gene:
                SF3B5 (Varview)
                Functional Consequence:
                2KB_upstream_variant,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:
                8.

                rs1488158550 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>A [Show Flanks]
                  Chromosome:
                  6:144095166 (GRCh38)
                  6:144416303 (GRCh37)
                  Canonical SPDI:
                  NC_000006.12:144095165:T:A
                  Gene:
                  SF3B5 (Varview)
                  Functional Consequence:
                  3_prime_UTR_variant
                  HGVS:
                  9.

                  rs1487889731 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    6:144096920 (GRCh38)
                    6:144418057 (GRCh37)
                    Canonical SPDI:
                    NC_000006.12:144096919:T:C
                    Gene:
                    SF3B5 (Varview)
                    Functional Consequence:
                    2KB_upstream_variant,upstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000004/1 (TOPMED)
                    C=0.000007/1 (GnomAD)
                    HGVS:
                    10.

                    rs1487531870 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      6:144097465 (GRCh38)
                      6:144418602 (GRCh37)
                      Canonical SPDI:
                      NC_000006.12:144097464:C:T
                      Gene:
                      SF3B5 (Varview)
                      Functional Consequence:
                      2KB_upstream_variant,upstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000007/1 (GnomAD)
                      T=0.000011/3 (TOPMED)
                      HGVS:
                      11.

                      rs1485842192 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        6:144096307 (GRCh38)
                        6:144417444 (GRCh37)
                        Canonical SPDI:
                        NC_000006.12:144096306:C:T
                        Gene:
                        SF3B5 (Varview)
                        Functional Consequence:
                        2KB_upstream_variant,upstream_transcript_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000007/1 (GnomAD)
                        HGVS:
                        12.

                        rs1481791960 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          6:144094884 (GRCh38)
                          6:144416021 (GRCh37)
                          Canonical SPDI:
                          NC_000006.12:144094883:T:C
                          Gene:
                          SF3B5 (Varview)
                          Functional Consequence:
                          3_prime_UTR_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0.000071/1 (ALFA)
                          C=0.000011/3 (TOPMED)
                          C=0.000021/3 (GnomAD)
                          HGVS:
                          13.

                          rs1480393812 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>T [Show Flanks]
                            Chromosome:
                            6:144095717 (GRCh38)
                            6:144416854 (GRCh37)
                            Canonical SPDI:
                            NC_000006.12:144095716:G:T
                            Gene:
                            SF3B5 (Varview)
                            Functional Consequence:
                            2KB_upstream_variant,upstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000011/3 (TOPMED)
                            T=0.000043/6 (GnomAD)
                            HGVS:
                            14.

                            rs1479136441 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              6:144094752 (GRCh38)
                              6:144415889 (GRCh37)
                              Canonical SPDI:
                              NC_000006.12:144094751:T:C
                              Gene:
                              SF3B5 (Varview)
                              Functional Consequence:
                              downstream_transcript_variant,500B_downstream_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000004/1 (TOPMED)
                              C=0.000007/1 (GnomAD)
                              HGVS:
                              15.

                              rs1478911254 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>C [Show Flanks]
                                Chromosome:
                                6:144097192 (GRCh38)
                                6:144418329 (GRCh37)
                                Canonical SPDI:
                                NC_000006.12:144097191:A:C
                                Gene:
                                SF3B5 (Varview)
                                Functional Consequence:
                                2KB_upstream_variant,upstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000004/1 (TOPMED)
                                C=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1478107806 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>G [Show Flanks]
                                  Chromosome:
                                  6:144096019 (GRCh38)
                                  6:144417156 (GRCh37)
                                  Canonical SPDI:
                                  NC_000006.12:144096018:C:G
                                  Gene:
                                  SF3B5 (Varview)
                                  Functional Consequence:
                                  2KB_upstream_variant,upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  G=0.000071/1 (ALFA)
                                  G=0.000004/1 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1477898164 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>C,G [Show Flanks]
                                    Chromosome:
                                    6:144097534 (GRCh38)
                                    6:144418671 (GRCh37)
                                    Canonical SPDI:
                                    NC_000006.12:144097533:A:C,NC_000006.12:144097533:A:G
                                    Gene:
                                    SF3B5 (Varview)
                                    Functional Consequence:
                                    2KB_upstream_variant,upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    HGVS:
                                    18.

                                    rs1477097326 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      6:144097518 (GRCh38)
                                      6:144418655 (GRCh37)
                                      Canonical SPDI:
                                      NC_000006.12:144097517:T:C
                                      Gene:
                                      SF3B5 (Varview)
                                      Functional Consequence:
                                      2KB_upstream_variant,upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000011/3 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1475244424 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        6:144097448 (GRCh38)
                                        6:144418585 (GRCh37)
                                        Canonical SPDI:
                                        NC_000006.12:144097447:A:G
                                        Gene:
                                        SF3B5 (Varview)
                                        Functional Consequence:
                                        2KB_upstream_variant,upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000011/3 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1474016068 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          AGCACA>- [Show Flanks]
                                          Chromosome:
                                          6:144095679 (GRCh38)
                                          6:144416816 (GRCh37)
                                          Canonical SPDI:
                                          NC_000006.12:144095677:AAGCACA:A
                                          Gene:
                                          SF3B5 (Varview)
                                          Functional Consequence:
                                          2KB_upstream_variant,upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0./0 (ALFA)
                                          -=0.000008/2 (TOPMED)
                                          -=0.000014/2 (GnomAD)
                                          HGVS:

                                          Display Settings:

                                          Format
                                          Items per page
                                          Sort by

                                          Send to:

                                          Choose Destination

                                          Supplemental Content

                                          Find related data

                                          Recent activity

                                          Your browsing activity is empty.

                                          Activity recording is turned off.

                                          Turn recording back on

                                          See more...