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Links from Gene

Items: 1 to 20 of 3412

1.

rs1491505550 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    CG>- [Show Flanks]
    Chromosome:
    11:3629330 (GRCh38)
    11:3650560 (GRCh37)
    Canonical SPDI:
    NC_000011.10:3629329:CG:
    Gene:
    TRPC2 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by cluster
    MAF:
    -=0.00201/30 (TOMMO)
    -=0.00685/4 (NorthernSweden)
    -=0.01163/226 (GnomAD)
    HGVS:
    2.

    rs1491475949 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      CA>- [Show Flanks]
      Chromosome:
      11:3629304 (GRCh38)
      11:3650534 (GRCh37)
      Canonical SPDI:
      NC_000011.10:3629302:ACA:A
      Gene:
      TRPC2 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      A=0./0 (ALFA)
      HGVS:
      3.

      rs1491400400 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        ->GT [Show Flanks]
        Chromosome:
        11:3629383 (GRCh38)
        11:3650614 (GRCh37)
        Canonical SPDI:
        NC_000011.10:3629383:T:TGT
        Gene:
        TRPC2 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        TGT=0./0 (ALFA)
        TG=0.000004/1 (TOPMED)
        HGVS:
        4.

        rs1491332734 [Homo sapiens]
          Variant type:
          SNV:
          Alleles:
          ->TG
          Chromosome:
          no mapping
          Canonical SPDI:
          5.

          rs1491239197 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            AT>- [Show Flanks]
            Chromosome:
            11:3629385 (GRCh38)
            11:3650615 (GRCh37)
            Canonical SPDI:
            NC_000011.10:3629382:ATAT:AT
            Gene:
            TRPC2 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            ATAT=0.00211/25 (ALFA)
            HGVS:
            6.

            rs1491204855 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              ->CATACATG [Show Flanks]
              Chromosome:
              11:3629330 (GRCh38)
              11:3650561 (GRCh37)
              Canonical SPDI:
              NC_000011.10:3629330:G:GCATACATG
              Gene:
              TRPC2 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              GCATACATG=0./0 (ALFA)
              HGVS:
              7.

              rs1491112136 has merged into rs1554960171 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                TTTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT [Show Flanks]
                Chromosome:
                11:3629502 (GRCh38)
                11:3650732 (GRCh37)
                Canonical SPDI:
                NC_000011.10:3629493:TTTTTTTTTTTTTTTT:TTTTTTTT,NC_000011.10:3629493:TTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000011.10:3629493:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000011.10:3629493:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000011.10:3629493:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000011.10:3629493:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000011.10:3629493:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000011.10:3629493:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000011.10:3629493:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000011.10:3629493:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000011.10:3629493:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT
                Gene:
                TRPC2 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                TTTTTTTTTTT=0./0 (ALFA)
                -=0.0018/3 (Korea1K)
                HGVS:
                8.

                rs1490903213 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>C [Show Flanks]
                  Chromosome:
                  11:3626121 (GRCh38)
                  11:3647351 (GRCh37)
                  Canonical SPDI:
                  NC_000011.10:3626120:A:C
                  Gene:
                  TRPC2 (Varview)
                  Functional Consequence:
                  2KB_upstream_variant,upstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000007/1 (GnomAD)
                  C=0.000019/5 (TOPMED)
                  HGVS:
                  9.

                  rs1490776964 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    TATACATACGTATACATACATA>- [Show Flanks]
                    Chromosome:
                    11:3629322 (GRCh38)
                    11:3650552 (GRCh37)
                    Canonical SPDI:
                    NC_000011.10:3629314:ATACATATATACATACGTATACATACATA:ATACATA
                    Gene:
                    TRPC2 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    ATACATA=0./0 (ALFA)
                    -=0.00009/2 (GnomAD)
                    HGVS:
                    10.

                    rs1490508641 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      11:3630411 (GRCh38)
                      11:3651641 (GRCh37)
                      Canonical SPDI:
                      NC_000011.10:3630410:G:A
                      Gene:
                      TRPC2 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000004/1 (TOPMED)
                      HGVS:
                      11.

                      rs1490287050 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        11:3629584 (GRCh38)
                        11:3650814 (GRCh37)
                        Canonical SPDI:
                        NC_000011.10:3629583:G:A
                        Gene:
                        TRPC2 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        A=0.000169/2 (ALFA)
                        A=0.000058/8 (GnomAD)
                        HGVS:
                        12.

                        rs1490164626 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>G [Show Flanks]
                          Chromosome:
                          11:3632221 (GRCh38)
                          11:3653451 (GRCh37)
                          Canonical SPDI:
                          NC_000011.10:3632220:C:G
                          Gene:
                          TRPC2 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000011/3 (TOPMED)
                          G=0.000014/2 (GnomAD)
                          HGVS:
                          13.

                          rs1490017309 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            11:3630713 (GRCh38)
                            11:3651943 (GRCh37)
                            Canonical SPDI:
                            NC_000011.10:3630712:C:T
                            Gene:
                            TRPC2 (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:
                            14.

                            rs1489798197 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              CTTT>- [Show Flanks]
                              Chromosome:
                              11:3630383 (GRCh38)
                              11:3651613 (GRCh37)
                              Canonical SPDI:
                              NC_000011.10:3630380:TTCTTT:TT
                              Gene:
                              TRPC2 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              TT=0./0 (ALFA)
                              -=0.000022/3 (GnomAD)
                              -=0.000074/2 (TOMMO)
                              HGVS:
                              15.

                              rs1489697333 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>A [Show Flanks]
                                Chromosome:
                                11:3636101 (GRCh38)
                                11:3657331 (GRCh37)
                                Canonical SPDI:
                                NC_000011.10:3636100:T:A
                                Gene:
                                TRPC2 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                A=0./0 (ALFA)
                                HGVS:
                                16.

                                rs1489691243 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  11:3632204 (GRCh38)
                                  11:3653434 (GRCh37)
                                  Canonical SPDI:
                                  NC_000011.10:3632203:T:C
                                  Gene:
                                  TRPC2 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000007/1 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1489664011 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>A,G [Show Flanks]
                                    Chromosome:
                                    11:3637040 (GRCh38)
                                    11:3658270 (GRCh37)
                                    Canonical SPDI:
                                    NC_000011.10:3637039:C:A,NC_000011.10:3637039:C:G
                                    Gene:
                                    TRPC2 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000008/2 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1489660277 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      11:3627369 (GRCh38)
                                      11:3648599 (GRCh37)
                                      Canonical SPDI:
                                      NC_000011.10:3627368:G:A
                                      Gene:
                                      TRPC2 (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:
                                      19.

                                      rs1489589776 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        11:3624983 (GRCh38)
                                        11:3646213 (GRCh37)
                                        Canonical SPDI:
                                        NC_000011.10:3624982:C:T
                                        Gene:
                                        TRPC2 (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=0.000021/3 (GnomAD)
                                        T=0.000212/4 (TOMMO)
                                        T=0.00308/9 (KOREAN)
                                        HGVS:
                                        20.

                                        rs1489528090 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          11:3626992 (GRCh38)
                                          11:3648222 (GRCh37)
                                          Canonical SPDI:
                                          NC_000011.10:3626991:A:G
                                          Gene:
                                          TRPC2 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.00003/8 (TOPMED)
                                          HGVS:

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