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 1188

1.

rs1490666267 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>T [Show Flanks]
    Chromosome:
    13:111116693 (GRCh38)
    13:111769040 (GRCh37)
    Canonical SPDI:
    NC_000013.11:111116692:G:T
    Gene:
    ARHGEF7 (Varview), ARHGEF7-AS2 (Varview)
    Functional Consequence:
    intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    T=0.000004/1 (TOPMED)
    T=0.000007/1 (GnomAD)
    HGVS:
    2.

    rs1488815566 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      13:111115909 (GRCh38)
      13:111768256 (GRCh37)
      Canonical SPDI:
      NC_000013.11:111115908:G:A
      Gene:
      ARHGEF7 (Varview), ARHGEF7-AS2 (Varview)
      Functional Consequence:
      intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0./0 (ALFA)
      A=0.000008/2 (TOPMED)
      A=0.000022/3 (GnomAD)
      HGVS:
      3.

      rs1488172179 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        13:111113470 (GRCh38)
        13:111765817 (GRCh37)
        Canonical SPDI:
        NC_000013.11:111113469:T:C
        Gene:
        ARHGEF7 (Varview), ARHGEF7-AS2 (Varview)
        Functional Consequence:
        500B_downstream_variant,2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0./0 (ALFA)
        C=0.000007/1 (GnomAD)
        C=0.000008/2 (TOPMED)
        HGVS:
        4.

        rs1487685882 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>T [Show Flanks]
          Chromosome:
          13:111113763 (GRCh38)
          13:111766110 (GRCh37)
          Canonical SPDI:
          NC_000013.11:111113762:G:T
          Gene:
          ARHGEF7 (Varview), ARHGEF7-AS2 (Varview)
          Functional Consequence:
          500B_downstream_variant,2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          T=0./0 (ALFA)
          T=0.000015/4 (TOPMED)
          HGVS:
          5.

          rs1486905036 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>T [Show Flanks]
            Chromosome:
            13:111117249 (GRCh38)
            13:111769596 (GRCh37)
            Canonical SPDI:
            NC_000013.11:111117248:A:T
            Gene:
            ARHGEF7 (Varview), ARHGEF7-AS2 (Varview)
            Functional Consequence:
            intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            T=0.000071/1 (ALFA)
            T=0.000008/2 (TOPMED)
            HGVS:
            6.

            rs1486701907 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              13:111114274 (GRCh38)
              13:111766621 (GRCh37)
              Canonical SPDI:
              NC_000013.11:111114273:G:A
              Gene:
              ARHGEF7 (Varview), ARHGEF7-AS2 (Varview)
              Functional Consequence:
              2KB_upstream_variant,non_coding_transcript_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.

              rs1486379258 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                CAT>- [Show Flanks]
                Chromosome:
                13:111117268 (GRCh38)
                13:111769615 (GRCh37)
                Canonical SPDI:
                NC_000013.11:111117265:ATCAT:AT
                Gene:
                ARHGEF7 (Varview), ARHGEF7-AS2 (Varview)
                Functional Consequence:
                intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                AT=0.000071/1 (ALFA)
                -=0.000011/3 (TOPMED)
                -=0.000021/3 (GnomAD)
                HGVS:
                8.

                rs1485499422 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  13:111115339 (GRCh38)
                  13:111767686 (GRCh37)
                  Canonical SPDI:
                  NC_000013.11:111115338:G:A
                  Gene:
                  ARHGEF7 (Varview), ARHGEF7-AS2 (Varview)
                  Functional Consequence:
                  genic_upstream_transcript_variant,non_coding_transcript_variant,5_prime_UTR_variant,intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000015/2 (GnomAD)
                  A=0.000023/6 (TOPMED)
                  HGVS:
                  9.

                  rs1484812991 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    13:111114819 (GRCh38)
                    13:111767166 (GRCh37)
                    Canonical SPDI:
                    NC_000013.11:111114818:C:T
                    Gene:
                    ARHGEF7 (Varview), ARHGEF7-AS2 (Varview)
                    Functional Consequence:
                    genic_upstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant,5_prime_UTR_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0.000071/1 (ALFA)
                    T=0.000004/1 (TOPMED)
                    T=0.000007/1 (GnomAD)
                    HGVS:
                    10.

                    rs1484803579 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>A [Show Flanks]
                      Chromosome:
                      13:111115037 (GRCh38)
                      13:111767384 (GRCh37)
                      Canonical SPDI:
                      NC_000013.11:111115036:C:A
                      Gene:
                      ARHGEF7 (Varview), ARHGEF7-AS2 (Varview)
                      Functional Consequence:
                      genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,non_coding_transcript_variant,5_prime_UTR_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000004/1 (TOPMED)
                      A=0.000007/1 (GnomAD)
                      HGVS:
                      11.
                      12.

                      rs1484010295 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>G [Show Flanks]
                        Chromosome:
                        13:111115793 (GRCh38)
                        13:111768140 (GRCh37)
                        Canonical SPDI:
                        NC_000013.11:111115792:T:G
                        Gene:
                        ARHGEF7 (Varview), ARHGEF7-AS2 (Varview)
                        Functional Consequence:
                        intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000007/1 (GnomAD)
                        G=0.000156/1 (1000Genomes)
                        HGVS:
                        13.

                        rs1483486604 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A,C [Show Flanks]
                          Chromosome:
                          13:111116467 (GRCh38)
                          13:111768814 (GRCh37)
                          Canonical SPDI:
                          NC_000013.11:111116466:G:A,NC_000013.11:111116466:G:C
                          Gene:
                          ARHGEF7 (Varview), ARHGEF7-AS2 (Varview)
                          Functional Consequence:
                          intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0./0 (ALFA)
                          A=0.000007/1 (GnomAD)
                          A=0.000035/1 (TOMMO)
                          HGVS:
                          14.

                          rs1483396581 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>A,T [Show Flanks]
                            Chromosome:
                            13:111113665 (GRCh38)
                            13:111766012 (GRCh37)
                            Canonical SPDI:
                            NC_000013.11:111113664:C:A,NC_000013.11:111113664:C:T
                            Gene:
                            ARHGEF7 (Varview), ARHGEF7-AS2 (Varview)
                            Functional Consequence:
                            500B_downstream_variant,2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000004/1 (TOPMED)
                            HGVS:
                            15.

                            rs1483032488 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              13:111115993 (GRCh38)
                              13:111768340 (GRCh37)
                              Canonical SPDI:
                              NC_000013.11:111115992:T:C
                              Gene:
                              ARHGEF7 (Varview), ARHGEF7-AS2 (Varview)
                              Functional Consequence:
                              intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              C=0./0 (ALFA)
                              HGVS:
                              16.

                              rs1482848912 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                13:111116288 (GRCh38)
                                13:111768635 (GRCh37)
                                Canonical SPDI:
                                NC_000013.11:111116287:C:T
                                Gene:
                                ARHGEF7 (Varview), ARHGEF7-AS2 (Varview)
                                Functional Consequence:
                                intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000009/1 (GnomAD)
                                T=0.000225/1 (Estonian)
                                HGVS:
                                17.

                                rs1482442197 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>C [Show Flanks]
                                  Chromosome:
                                  13:111117000 (GRCh38)
                                  13:111769347 (GRCh37)
                                  Canonical SPDI:
                                  NC_000013.11:111116999:G:C
                                  Gene:
                                  ARHGEF7 (Varview), ARHGEF7-AS2 (Varview)
                                  Functional Consequence:
                                  intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_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:
                                  18.

                                  rs1481432859 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    13:111114560 (GRCh38)
                                    13:111766907 (GRCh37)
                                    Canonical SPDI:
                                    NC_000013.11:111114559:C:T
                                    Gene:
                                    ARHGEF7 (Varview), ARHGEF7-AS2 (Varview)
                                    Functional Consequence:
                                    2KB_upstream_variant,non_coding_transcript_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:
                                    19.

                                    rs1480773408 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>G [Show Flanks]
                                      Chromosome:
                                      13:111116767 (GRCh38)
                                      13:111769114 (GRCh37)
                                      Canonical SPDI:
                                      NC_000013.11:111116766:T:G
                                      Gene:
                                      ARHGEF7 (Varview), ARHGEF7-AS2 (Varview)
                                      Functional Consequence:
                                      intron_variant,2KB_upstream_variant,upstream_transcript_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:
                                      20.

                                      rs1480768314 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>A [Show Flanks]
                                        Chromosome:
                                        13:111116698 (GRCh38)
                                        13:111769045 (GRCh37)
                                        Canonical SPDI:
                                        NC_000013.11:111116697:C:A
                                        Gene:
                                        ARHGEF7 (Varview), ARHGEF7-AS2 (Varview)
                                        Functional Consequence:
                                        intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0.000066/1 (ALFA)
                                        A=0.000057/8 (GnomAD)
                                        A=0.000223/1 (Estonian)
                                        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...