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 11960

1.

rs1491519255 has merged into rs537264457 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    CT>- [Show Flanks]
    Chromosome:
    16:253509 (GRCh38)
    16:303508 (GRCh37)
    Canonical SPDI:
    NC_000016.10:253506:CTCT:CT
    Gene:
    FAM234A (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    CTCT=0.001779/25 (ALFA)
    -=0.000071/2 (TOMMO)
    -=0.002638/367 (GnomAD)
    -=0.002655/13 (1000Genomes)
    -=0.002709/717 (TOPMED)
    HGVS:

    2.

    rs1491504306 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      AT>- [Show Flanks]
      Chromosome:
      16:260654 (GRCh38)
      16:310653 (GRCh37)
      Canonical SPDI:
      NC_000016.10:260653:AT:
      Gene:
      FAM234A (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      -=0.000073/2 (ALFA)
      -=0.00003/8 (TOPMED)
      -=0.000035/1 (TOMMO)
      -=0.000071/10 (GnomAD)
      -=0.000087/13 (GnomAD_exomes)
      -=0.000223/1 (Estonian)
      -=0.000546/1 (Korea1K)
      HGVS:

      3.

      rs1491489060 has merged into rs370983209 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        AAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAAAAAAAAAAA [Show Flanks]
        Chromosome:
        16:241917 (GRCh38)
        16:291916 (GRCh37)
        Canonical SPDI:
        NC_000016.10:241905:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000016.10:241905:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000016.10:241905:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000016.10:241905:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000016.10:241905:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000016.10:241905:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000016.10:241905:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000016.10:241905:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000016.10:241905:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
        Gene:
        FAM234A (Varview)
        Functional Consequence:
        genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        AAAAAAAAAAAAA=0./0 (ALFA)
        AAAAAAAAAAAAA=0.00189/1 (NorthernSweden)
        HGVS:

        4.

        rs1491407018 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          ->ACAGGCTTTTCCTCTCCCT [Show Flanks]
          Chromosome:
          16:259956 (GRCh38)
          16:309956 (GRCh37)
          Canonical SPDI:
          NC_000016.10:259956:CTCTCCCTACAGGCTTTTCCTCTCCCT:CTCTCCCTACAGGCTTTTCCTCTCCCTACAGGCTTTTCCTCTCCCT
          Gene:
          FAM234A (Varview)
          Functional Consequence:
          coding_sequence_variant,splice_acceptor_variant,intron_variant,non_coding_transcript_variant
          Validated:
          by frequency
          MAF:
          CTCTCCCTACAGGCTTTTC=0.000012/3 (GnomAD_exomes)
          HGVS:

          5.

          rs1491356272 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            ->A [Show Flanks]
            Chromosome:
            16:233105 (GRCh38)
            16:283105 (GRCh37)
            Canonical SPDI:
            NC_000016.10:233105:A:AA
            Gene:
            FAM234A (Varview)
            Functional Consequence:
            2KB_upstream_variant,upstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            AA=0./0 (ALFA)
            A=0.000023/6 (TOPMED)
            A=0.00005/7 (GnomAD)
            HGVS:

            6.

            rs1491175754 [Homo sapiens]
              Variant type:
              DEL
              Alleles:
              CA>- [Show Flanks]
              Chromosome:
              16:241905 (GRCh38)
              16:291904 (GRCh37)
              Canonical SPDI:
              NC_000016.10:241904:CA:
              Gene:
              FAM234A (Varview)
              Functional Consequence:
              upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              -=0.00042/5 (ALFA)
              -=0.00067/19 (TOMMO)
              HGVS:

              7.

              rs1491025417 has merged into rs199754290 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                AAA>-,A,AA,AAAA [Show Flanks]
                Chromosome:
                16:237083 (GRCh38)
                16:287082 (GRCh37)
                Canonical SPDI:
                NC_000016.10:237078:AAAAAAA:AAAA,NC_000016.10:237078:AAAAAAA:AAAAA,NC_000016.10:237078:AAAAAAA:AAAAAA,NC_000016.10:237078:AAAAAAA:AAAAAAAA
                Gene:
                FAM234A (Varview)
                Functional Consequence:
                intron_variant,genic_upstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                AAAAAA=0./0 (ALFA)
                -=0.00057/9 (TOMMO)
                -=0.00109/2 (Korea1K)
                -=0.005/3 (NorthernSweden)
                HGVS:

                8.

                rs1491007311 has merged into rs35208632 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  TTTTTTT>-,TT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT [Show Flanks]
                  Chromosome:
                  16:252195 (GRCh38)
                  16:302194 (GRCh37)
                  Canonical SPDI:
                  NC_000016.10:252185:TTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000016.10:252185:TTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000016.10:252185:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000016.10:252185:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000016.10:252185:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000016.10:252185:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000016.10:252185:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000016.10:252185:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000016.10:252185:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:252185:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT
                  Gene:
                  FAM234A (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  TTTTTTTTTTTTTT=0./0 (ALFA)
                  HGVS:

                  9.

                  rs1490981500 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    16:264187 (GRCh38)
                    16:314186 (GRCh37)
                    Canonical SPDI:
                    NC_000016.10:264186:T:C
                    Gene:
                    FAM234A (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by cluster
                    MAF:
                    C=0.000015/3 (GnomAD_exomes)
                    C=0.000283/5 (TOMMO)
                    C=0.001092/2 (Korea1K)
                    HGVS:

                    10.

                    rs1490954420 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      16:239783 (GRCh38)
                      16:289782 (GRCh37)
                      Canonical SPDI:
                      NC_000016.10:239782:A:G
                      Gene:
                      FAM234A (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=0.000014/2 (GnomAD)
                      HGVS:

                      11.

                      rs1490950242 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        16:250085 (GRCh38)
                        16:300084 (GRCh37)
                        Canonical SPDI:
                        NC_000016.10:250084:C:T
                        Gene:
                        FAM234A (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000004/1 (TOPMED)
                        T=0.000007/1 (GnomAD)
                        HGVS:

                        12.

                        rs1490941981 has merged into rs1223937675 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          AAAA>-,AA,AAA,AAAAA,AAAAAA [Show Flanks]
                          Chromosome:
                          16:239094 (GRCh38)
                          16:289093 (GRCh37)
                          Canonical SPDI:
                          NC_000016.10:239087:AAAAAAAAAA:AAAAAA,NC_000016.10:239087:AAAAAAAAAA:AAAAAAAA,NC_000016.10:239087:AAAAAAAAAA:AAAAAAAAA,NC_000016.10:239087:AAAAAAAAAA:AAAAAAAAAAA,NC_000016.10:239087:AAAAAAAAAA:AAAAAAAAAAAA
                          Gene:
                          FAM234A (Varview)
                          Functional Consequence:
                          upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          AAAAAAAAAAA=0./0 (ALFA)
                          AA=0.000004/1 (TOPMED)
                          A=0.003821/7 (Korea1K)
                          HGVS:

                          13.

                          rs1490914079 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            16:250986 (GRCh38)
                            16:300985 (GRCh37)
                            Canonical SPDI:
                            NC_000016.10:250985:T:C
                            Gene:
                            FAM234A (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000004/1 (TOPMED)
                            C=0.000007/1 (GnomAD)
                            HGVS:

                            14.

                            rs1490660918 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              16:245679 (GRCh38)
                              16:295678 (GRCh37)
                              Canonical SPDI:
                              NC_000016.10:245678:C:T
                              Gene:
                              FAM234A (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000008/2 (TOPMED)
                              T=0.000035/1 (TOMMO)
                              HGVS:

                              15.

                              rs1490601384 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>C [Show Flanks]
                                Chromosome:
                                16:267622 (GRCh38)
                                16:317621 (GRCh37)
                                Canonical SPDI:
                                NC_000016.10:267621:G:C
                                Gene:
                                FAM234A (Varview)
                                Functional Consequence:
                                genic_downstream_transcript_variant,intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000067/7 (GnomAD)
                                C=0.002728/44 (TOMMO)
                                HGVS:

                                16.

                                rs1490493138 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  16:263798 (GRCh38)
                                  16:313797 (GRCh37)
                                  Canonical SPDI:
                                  NC_000016.10:263797:G:A
                                  Gene:
                                  FAM234A (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  A=0.000004/1 (GnomAD_exomes)
                                  HGVS:

                                  17.

                                  rs1490461625 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>A,T [Show Flanks]
                                    Chromosome:
                                    16:262547 (GRCh38)
                                    16:312546 (GRCh37)
                                    Canonical SPDI:
                                    NC_000016.10:262546:C:A,NC_000016.10:262546:C:T
                                    Gene:
                                    FAM234A (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,non_coding_transcript_variant,missense_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    T=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000016.10:g.262547C>A, NC_000016.10:g.262547C>T, NC_000016.9:g.312546C>A, NC_000016.9:g.312546C>T, NM_032039.4:c.965C>A, NM_032039.4:c.965C>T, NM_032039.3:c.965C>A, NM_032039.3:c.965C>T, NM_032039.2:c.965C>A, NM_032039.2:c.965C>T, XM_005255623.4:c.938C>A, XM_005255623.4:c.938C>T, XM_005255623.3:c.938C>A, XM_005255623.3:c.938C>T, XM_005255623.2:c.938C>A, XM_005255623.2:c.938C>T, XM_005255623.1:c.938C>A, XM_005255623.1:c.938C>T, XM_017023760.3:c.965C>A, XM_017023760.3:c.965C>T, XM_017023760.2:c.965C>A, XM_017023760.2:c.965C>T, XM_017023760.1:c.965C>A, XM_017023760.1:c.965C>T, XM_017023763.3:c.938C>A, XM_017023763.3:c.938C>T, XM_017023763.2:c.938C>A, XM_017023763.2:c.938C>T, XM_017023763.1:c.938C>A, XM_017023763.1:c.938C>T, XM_017023765.3:c.911C>A, XM_017023765.3:c.911C>T, XM_017023765.2:c.911C>A, XM_017023765.2:c.911C>T, XM_017023765.1:c.911C>A, XM_017023765.1:c.911C>T, XM_017023762.2:c.965C>A, XM_017023762.2:c.965C>T, XM_017023762.1:c.965C>A, XM_017023762.1:c.965C>T, XM_017023761.2:c.965C>A, XM_017023761.2:c.965C>T, XM_017023761.1:c.965C>A, XM_017023761.1:c.965C>T, XM_005255622.2:c.965C>A, XM_005255622.2:c.965C>T, XM_005255622.1:c.965C>A, XM_005255622.1:c.965C>T, XM_011522691.2:c.965C>A, XM_011522691.2:c.965C>T, XM_011522691.1:c.965C>A, XM_011522691.1:c.965C>T, XM_011522692.2:c.965C>A, XM_011522692.2:c.965C>T, XM_011522692.1:c.965C>A, XM_011522692.1:c.965C>T, XM_017023764.2:c.938C>A, XM_017023764.2:c.938C>T, XM_017023764.1:c.938C>A, XM_017023764.1:c.938C>T, NM_001284497.2:c.965C>A, NM_001284497.2:c.965C>T, NM_001284497.1:c.965C>A, NM_001284497.1:c.965C>T, XM_006720957.2:c.938C>A, XM_006720957.2:c.938C>T, XM_006720957.1:c.938C>A, XM_006720957.1:c.938C>T, NR_104317.2:n.1141C>A, NR_104317.2:n.1141C>T, NR_104317.1:n.1416C>A, NR_104317.1:n.1416C>T, XM_047434756.1:c.938C>A, XM_047434756.1:c.938C>T, XM_047434744.1:c.965C>A, XM_047434744.1:c.965C>T, XM_047434753.1:c.938C>A, XM_047434753.1:c.938C>T, XM_047434745.1:c.965C>A, XM_047434745.1:c.965C>T, XM_047434742.1:c.965C>A, XM_047434742.1:c.965C>T, XM_047434746.1:c.965C>A, XM_047434746.1:c.965C>T, XM_047434749.1:c.938C>A, XM_047434749.1:c.938C>T, XM_047434747.1:c.938C>A, XM_047434747.1:c.938C>T, XM_047434743.1:c.965C>A, XM_047434743.1:c.965C>T, XM_047434755.1:c.938C>A, XM_047434755.1:c.938C>T, XM_047434752.1:c.938C>A, XM_047434752.1:c.938C>T, XM_047434751.1:c.938C>A, XM_047434751.1:c.938C>T, XM_047434750.1:c.938C>A, XM_047434750.1:c.938C>T, XM_047434748.1:c.938C>A, XM_047434748.1:c.938C>T, NP_114428.1:p.Ser322Tyr, NP_114428.1:p.Ser322Phe, XP_005255680.1:p.Ser313Tyr, XP_005255680.1:p.Ser313Phe, XP_016879249.1:p.Ser322Tyr, XP_016879249.1:p.Ser322Phe, XP_016879252.1:p.Ser313Tyr, XP_016879252.1:p.Ser313Phe, XP_016879254.1:p.Ser304Tyr, XP_016879254.1:p.Ser304Phe, XP_016879251.1:p.Ser322Tyr, XP_016879251.1:p.Ser322Phe, XP_016879250.1:p.Ser322Tyr, XP_016879250.1:p.Ser322Phe, XP_005255679.1:p.Ser322Tyr, XP_005255679.1:p.Ser322Phe, XP_011520993.1:p.Ser322Tyr, XP_011520993.1:p.Ser322Phe, XP_011520994.1:p.Ser322Tyr, XP_011520994.1:p.Ser322Phe, XP_016879253.1:p.Ser313Tyr, XP_016879253.1:p.Ser313Phe, NP_001271426.1:p.Ser322Tyr, NP_001271426.1:p.Ser322Phe, XP_006721020.1:p.Ser313Tyr, XP_006721020.1:p.Ser313Phe, XP_047290712.1:p.Ser313Tyr, XP_047290712.1:p.Ser313Phe, XP_047290700.1:p.Ser322Tyr, XP_047290700.1:p.Ser322Phe, XP_047290709.1:p.Ser313Tyr, XP_047290709.1:p.Ser313Phe, XP_047290701.1:p.Ser322Tyr, XP_047290701.1:p.Ser322Phe, XP_047290698.1:p.Ser322Tyr, XP_047290698.1:p.Ser322Phe, XP_047290702.1:p.Ser322Tyr, XP_047290702.1:p.Ser322Phe, XP_047290705.1:p.Ser313Tyr, XP_047290705.1:p.Ser313Phe, XP_047290703.1:p.Ser313Tyr, XP_047290703.1:p.Ser313Phe, XP_047290699.1:p.Ser322Tyr, XP_047290699.1:p.Ser322Phe, XP_047290711.1:p.Ser313Tyr, XP_047290711.1:p.Ser313Phe, XP_047290708.1:p.Ser313Tyr, XP_047290708.1:p.Ser313Phe, XP_047290707.1:p.Ser313Tyr, XP_047290707.1:p.Ser313Phe, XP_047290706.1:p.Ser313Tyr, XP_047290706.1:p.Ser313Phe, XP_047290704.1:p.Ser313Tyr, XP_047290704.1:p.Ser313Phe

                                    18.

                                    rs1490331996 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      16:255073 (GRCh38)
                                      16:305072 (GRCh37)
                                      Canonical SPDI:
                                      NC_000016.10:255072:C:T
                                      Gene:
                                      FAM234A (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      T=0.000071/1 (ALFA)
                                      T=0.000008/2 (TOPMED)
                                      HGVS:

                                      19.

                                      rs1490327157 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        16:255143 (GRCh38)
                                        16:305142 (GRCh37)
                                        Canonical SPDI:
                                        NC_000016.10:255142:A:G
                                        Gene:
                                        FAM234A (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000004/1 (TOPMED)
                                        HGVS:

                                        20.

                                        rs1490275475 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>A [Show Flanks]
                                          Chromosome:
                                          16:256020 (GRCh38)
                                          16:306019 (GRCh37)
                                          Canonical SPDI:
                                          NC_000016.10:256019:C:A
                                          Gene:
                                          FAM234A (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000019/5 (TOPMED)
                                          A=0.000021/3 (GnomAD)
                                          HGVS:

                                          Display Settings:

                                          Format
                                          Items per page
                                          Sort by

                                          Send to:

                                          Choose Destination

                                          Supplemental Content

                                          Filters: Manage Filters

                                          Find related data

                                          Recent activity

                                          Clear Turn Off Turn On

                                          Your browsing activity is empty.

                                          Activity recording is turned off.

                                          Turn recording back on

                                          See more...