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Items: 1 to 20 of 7782

1.

rs1491410792 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    ->T [Show Flanks]
    Chromosome:
    7:100813295 (GRCh38)
    7:100410918 (GRCh37)
    Canonical SPDI:
    NC_000007.14:100813295:T:TT
    Gene:
    EPHB4 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TT=0./0 (ALFA)
    T=0.000007/1 (GnomAD)
    T=0.000011/3 (TOPMED)
    HGVS:
    2.

    rs1491394848 has merged into rs33978512 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      TTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
      Chromosome:
      7:100817870 (GRCh38)
      7:100415492 (GRCh37)
      Canonical SPDI:
      NC_000007.14:100817859:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000007.14:100817859:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000007.14:100817859:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000007.14:100817859:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000007.14:100817859:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000007.14:100817859:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000007.14:100817859:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000007.14:100817859:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000007.14:100817859:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000007.14:100817859:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000007.14:100817859:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000007.14:100817859:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000007.14:100817859:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:100817859:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:100817859:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:100817859:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:100817859:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:100817859:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:100817859:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:100817859:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:100817859:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:100817859:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:100817859:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:100817859:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:100817859:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:100817859:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:100817859:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:100817859:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:100817859:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:100817859:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
      Gene:
      EPHB4 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      TTTTTTTTTT=0./0 (ALFA)
      HGVS:
      NC_000007.14:g.100817870_100817883del, NC_000007.14:g.100817871_100817883del, NC_000007.14:g.100817872_100817883del, NC_000007.14:g.100817873_100817883del, NC_000007.14:g.100817874_100817883del, NC_000007.14:g.100817875_100817883del, NC_000007.14:g.100817876_100817883del, NC_000007.14:g.100817877_100817883del, NC_000007.14:g.100817878_100817883del, NC_000007.14:g.100817879_100817883del, NC_000007.14:g.100817880_100817883del, NC_000007.14:g.100817881_100817883del, NC_000007.14:g.100817882_100817883del, NC_000007.14:g.100817883del, NC_000007.14:g.100817883dup, NC_000007.14:g.100817882_100817883dup, NC_000007.14:g.100817881_100817883dup, NC_000007.14:g.100817880_100817883dup, NC_000007.14:g.100817879_100817883dup, NC_000007.14:g.100817878_100817883dup, NC_000007.14:g.100817877_100817883dup, NC_000007.14:g.100817876_100817883dup, NC_000007.14:g.100817875_100817883dup, NC_000007.14:g.100817874_100817883dup, NC_000007.14:g.100817873_100817883dup, NC_000007.14:g.100817872_100817883dup, NC_000007.14:g.100817871_100817883dup, NC_000007.14:g.100817870_100817883dup, NC_000007.14:g.100817869_100817883dup, NC_000007.14:g.100817867_100817883dup, NC_000007.13:g.100415492_100415505del, NC_000007.13:g.100415493_100415505del, NC_000007.13:g.100415494_100415505del, NC_000007.13:g.100415495_100415505del, NC_000007.13:g.100415496_100415505del, NC_000007.13:g.100415497_100415505del, NC_000007.13:g.100415498_100415505del, NC_000007.13:g.100415499_100415505del, NC_000007.13:g.100415500_100415505del, NC_000007.13:g.100415501_100415505del, NC_000007.13:g.100415502_100415505del, NC_000007.13:g.100415503_100415505del, NC_000007.13:g.100415504_100415505del, NC_000007.13:g.100415505del, NC_000007.13:g.100415505dup, NC_000007.13:g.100415504_100415505dup, NC_000007.13:g.100415503_100415505dup, NC_000007.13:g.100415502_100415505dup, NC_000007.13:g.100415501_100415505dup, NC_000007.13:g.100415500_100415505dup, NC_000007.13:g.100415499_100415505dup, NC_000007.13:g.100415498_100415505dup, NC_000007.13:g.100415497_100415505dup, NC_000007.13:g.100415496_100415505dup, NC_000007.13:g.100415495_100415505dup, NC_000007.13:g.100415494_100415505dup, NC_000007.13:g.100415493_100415505dup, NC_000007.13:g.100415492_100415505dup, NC_000007.13:g.100415491_100415505dup, NC_000007.13:g.100415489_100415505dup, NG_052671.1:g.14649_14662del, NG_052671.1:g.14650_14662del, NG_052671.1:g.14651_14662del, NG_052671.1:g.14652_14662del, NG_052671.1:g.14653_14662del, NG_052671.1:g.14654_14662del, NG_052671.1:g.14655_14662del, NG_052671.1:g.14656_14662del, NG_052671.1:g.14657_14662del, NG_052671.1:g.14658_14662del, NG_052671.1:g.14659_14662del, NG_052671.1:g.14660_14662del, NG_052671.1:g.14661_14662del, NG_052671.1:g.14662del, NG_052671.1:g.14662dup, NG_052671.1:g.14661_14662dup, NG_052671.1:g.14660_14662dup, NG_052671.1:g.14659_14662dup, NG_052671.1:g.14658_14662dup, NG_052671.1:g.14657_14662dup, NG_052671.1:g.14656_14662dup, NG_052671.1:g.14655_14662dup, NG_052671.1:g.14654_14662dup, NG_052671.1:g.14653_14662dup, NG_052671.1:g.14652_14662dup, NG_052671.1:g.14651_14662dup, NG_052671.1:g.14650_14662dup, NG_052671.1:g.14649_14662dup, NG_052671.1:g.14648_14662dup, NG_052671.1:g.14646_14662dup
      3.

      rs1491333995 [Homo sapiens]
        Variant type:
        INS
        Alleles:
        ->G [Show Flanks]
        Chromosome:
        7:100813307 (GRCh38)
        7:100410930 (GRCh37)
        Canonical SPDI:
        NC_000007.14:100813307::G
        Gene:
        EPHB4 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        G=0.00008/1 (ALFA)
        G=0.00001/1 (GnomAD)
        HGVS:
        4.

        rs1491301708 has merged into rs750195537 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          TTTTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
          Chromosome:
          7:100813316 (GRCh38)
          7:100410938 (GRCh37)
          Canonical SPDI:
          NC_000007.14:100813306:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000007.14:100813306:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000007.14:100813306:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000007.14:100813306:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000007.14:100813306:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000007.14:100813306:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000007.14:100813306:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000007.14:100813306:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000007.14:100813306:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000007.14:100813306:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000007.14:100813306:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000007.14:100813306:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:100813306:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:100813306:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:100813306:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:100813306:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:100813306:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:100813306:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:100813306:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:100813306:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:100813306:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:100813306:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:100813306:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
          Gene:
          EPHB4 (Varview)
          Functional Consequence:
          intron_variant
          Clinical significance:
          benign
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          TTTTTTTTT=0./0 (ALFA)
          -=0.000079/21 (TOPMED)
          HGVS:
          NC_000007.14:g.100813316_100813329del, NC_000007.14:g.100813318_100813329del, NC_000007.14:g.100813319_100813329del, NC_000007.14:g.100813320_100813329del, NC_000007.14:g.100813321_100813329del, NC_000007.14:g.100813323_100813329del, NC_000007.14:g.100813324_100813329del, NC_000007.14:g.100813325_100813329del, NC_000007.14:g.100813326_100813329del, NC_000007.14:g.100813327_100813329del, NC_000007.14:g.100813328_100813329del, NC_000007.14:g.100813329del, NC_000007.14:g.100813329dup, NC_000007.14:g.100813328_100813329dup, NC_000007.14:g.100813327_100813329dup, NC_000007.14:g.100813326_100813329dup, NC_000007.14:g.100813325_100813329dup, NC_000007.14:g.100813324_100813329dup, NC_000007.14:g.100813317_100813329dup, NC_000007.14:g.100813316_100813329dup, NC_000007.14:g.100813313_100813329dup, NC_000007.14:g.100813329_100813330insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.100813329_100813330insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.100410938_100410951del, NC_000007.13:g.100410940_100410951del, NC_000007.13:g.100410941_100410951del, NC_000007.13:g.100410942_100410951del, NC_000007.13:g.100410943_100410951del, NC_000007.13:g.100410945_100410951del, NC_000007.13:g.100410946_100410951del, NC_000007.13:g.100410947_100410951del, NC_000007.13:g.100410948_100410951del, NC_000007.13:g.100410949_100410951del, NC_000007.13:g.100410950_100410951del, NC_000007.13:g.100410951del, NC_000007.13:g.100410951dup, NC_000007.13:g.100410950_100410951dup, NC_000007.13:g.100410949_100410951dup, NC_000007.13:g.100410948_100410951dup, NC_000007.13:g.100410947_100410951dup, NC_000007.13:g.100410946_100410951dup, NC_000007.13:g.100410939_100410951dup, NC_000007.13:g.100410938_100410951dup, NC_000007.13:g.100410935_100410951dup, NC_000007.13:g.100410951_100410952insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.100410951_100410952insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_052671.1:g.19202_19215del, NG_052671.1:g.19204_19215del, NG_052671.1:g.19205_19215del, NG_052671.1:g.19206_19215del, NG_052671.1:g.19207_19215del, NG_052671.1:g.19209_19215del, NG_052671.1:g.19210_19215del, NG_052671.1:g.19211_19215del, NG_052671.1:g.19212_19215del, NG_052671.1:g.19213_19215del, NG_052671.1:g.19214_19215del, NG_052671.1:g.19215del, NG_052671.1:g.19215dup, NG_052671.1:g.19214_19215dup, NG_052671.1:g.19213_19215dup, NG_052671.1:g.19212_19215dup, NG_052671.1:g.19211_19215dup, NG_052671.1:g.19210_19215dup, NG_052671.1:g.19203_19215dup, NG_052671.1:g.19202_19215dup, NG_052671.1:g.19199_19215dup, NG_052671.1:g.19215_19216insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_052671.1:g.19215_19216insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
          5.

          rs1491259488 [Homo sapiens]
            Variant type:
            INS
            Alleles:
            ->G [Show Flanks]
            Chromosome:
            7:100817860 (GRCh38)
            7:100415483 (GRCh37)
            Canonical SPDI:
            NC_000007.14:100817860::G
            Gene:
            EPHB4 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            G=0./0 (ALFA)
            HGVS:
            6.

            rs1491219865 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              GC>- [Show Flanks]
              Chromosome:
              7:100826965 (GRCh38)
              7:100424587 (GRCh37)
              Canonical SPDI:
              NC_000007.14:100826963:CGC:C
              Gene:
              EPHB4 (Varview), SLC12A9 (Varview)
              Functional Consequence:
              upstream_transcript_variant,5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
              Clinical significance:
              benign
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0.037001/770 (ALFA)
              -=0.012457/209 (TOMMO)
              -=0.016376/30 (Korea1K)
              -=0.019885/83 (Estonian)
              -=0.03956/6063 (GnomAD_exomes)
              -=0.05/2 (GENOME_DK)
              -=0.051021/6635 (GnomAD)
              -=0.051366/13596 (TOPMED)
              -=0.063687/1529 (ExAC)
              -=0.475/5700 (GoESP)
              HGVS:
              7.

              rs1491011925 has merged into rs5886141 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                AA>-,A,AAA,AAAA [Show Flanks]
                Chromosome:
                7:100811292 (GRCh38)
                7:100408914 (GRCh37)
                Canonical SPDI:
                NC_000007.14:100811278:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000007.14:100811278:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000007.14:100811278:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000007.14:100811278:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA
                Gene:
                EPHB4 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                AAAAAAAAAAAAAAAAA=0./0 (ALFA)
                A=0.2668/1336 (1000Genomes)
                A=0.4/16 (GENOME_DK)
                HGVS:
                8.

                rs1490823105 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>T [Show Flanks]
                  Chromosome:
                  7:100811678 (GRCh38)
                  7:100409300 (GRCh37)
                  Canonical SPDI:
                  NC_000007.14:100811677:G:T
                  Gene:
                  EPHB4 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000021/3 (GnomAD)
                  HGVS:
                  9.

                  rs1490813751 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    7:100826865 (GRCh38)
                    7:100424487 (GRCh37)
                    Canonical SPDI:
                    NC_000007.14:100826864:C:T
                    Gene:
                    EPHB4 (Varview), SLC12A9 (Varview)
                    Functional Consequence:
                    2KB_upstream_variant,intron_variant,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:
                    10.

                    rs1490446260 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      7:100808466 (GRCh38)
                      7:100406088 (GRCh37)
                      Canonical SPDI:
                      NC_000007.14:100808465:A:G
                      Gene:
                      EPHB4 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000007/1 (GnomAD)
                      G=0.000011/3 (TOPMED)
                      HGVS:
                      11.

                      rs1490423196 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>T [Show Flanks]
                        Chromosome:
                        7:100824986 (GRCh38)
                        7:100422608 (GRCh37)
                        Canonical SPDI:
                        NC_000007.14:100824985:G:T
                        Gene:
                        EPHB4 (Varview), SLC12A9 (Varview)
                        Functional Consequence:
                        2KB_upstream_variant,intron_variant,upstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000021/3 (GnomAD)
                        HGVS:
                        12.

                        rs1490411269 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          7:100823561 (GRCh38)
                          7:100421183 (GRCh37)
                          Canonical SPDI:
                          NC_000007.14:100823560:T:C
                          Gene:
                          EPHB4 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          C=0./0 (ALFA)
                          HGVS:
                          13.

                          rs1490192281 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            7:100803118 (GRCh38)
                            7:100400740 (GRCh37)
                            Canonical SPDI:
                            NC_000007.14:100803117:G:A
                            Gene:
                            EPHB4 (Varview)
                            Functional Consequence:
                            3_prime_UTR_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000008/2 (TOPMED)
                            A=0.000014/2 (GnomAD)
                            HGVS:
                            14.

                            rs1490054814 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              7:100805916 (GRCh38)
                              7:100403538 (GRCh37)
                              Canonical SPDI:
                              NC_000007.14:100805915:C:T
                              Gene:
                              EPHB4 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000004/1 (TOPMED)
                              T=0.000014/2 (GnomAD)
                              HGVS:
                              15.

                              rs1490039914 has merged into rs1227942508 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                T>-,TT [Show Flanks]
                                Chromosome:
                                7:100808229 (GRCh38)
                                7:100405851 (GRCh37)
                                Canonical SPDI:
                                NC_000007.14:100808228:TTTTTTT:TTTTTT,NC_000007.14:100808228:TTTTTTT:TTTTTTTT
                                Gene:
                                EPHB4 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                TTTTTTTT=0./0 (ALFA)
                                -=0.00004/1 (TOMMO)
                                HGVS:
                                16.

                                rs1489926508 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>A [Show Flanks]
                                  Chromosome:
                                  7:100805106 (GRCh38)
                                  7:100402728 (GRCh37)
                                  Canonical SPDI:
                                  NC_000007.14:100805105:T:A
                                  Gene:
                                  EPHB4 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0.000216/4 (ALFA)
                                  A=0.000004/1 (TOPMED)
                                  A=0.000014/2 (GnomAD)
                                  A=0.000893/4 (Estonian)
                                  HGVS:
                                  17.

                                  rs1489922161 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>G [Show Flanks]
                                    Chromosome:
                                    7:100805158 (GRCh38)
                                    7:100402780 (GRCh37)
                                    Canonical SPDI:
                                    NC_000007.14:100805157:C:G
                                    Gene:
                                    EPHB4 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by cluster
                                    MAF:
                                    G=0.000004/1 (GnomAD_exomes)
                                    G=0.000007/1 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1489919709 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>G,T [Show Flanks]
                                      Chromosome:
                                      7:100828313 (GRCh38)
                                      7:100425935 (GRCh37)
                                      Canonical SPDI:
                                      NC_000007.14:100828312:C:G,NC_000007.14:100828312:C:T
                                      Gene:
                                      EPHB4 (Varview), SLC12A9 (Varview)
                                      Functional Consequence:
                                      genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.00007/1 (TOMMO)
                                      HGVS:
                                      19.

                                      rs1489705793 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>C,G [Show Flanks]
                                        Chromosome:
                                        7:100820447 (GRCh38)
                                        7:100418069 (GRCh37)
                                        Canonical SPDI:
                                        NC_000007.14:100820446:A:C,NC_000007.14:100820446:A:G
                                        Gene:
                                        EPHB4 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000004/1 (TOPMED)
                                        C=0.000007/1 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1489640074 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A,T [Show Flanks]
                                          Chromosome:
                                          7:100804856 (GRCh38)
                                          7:100402478 (GRCh37)
                                          Canonical SPDI:
                                          NC_000007.14:100804855:G:A,NC_000007.14:100804855:G:T
                                          Gene:
                                          EPHB4 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          HGVS:

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