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Links from Gene

Items: 1 to 20 of 13415

1.

rs1491574847 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    ->A [Show Flanks]
    Chromosome:
    4:2839315 (GRCh38)
    4:2841043 (GRCh37)
    Canonical SPDI:
    NC_000004.12:2839315:A:AA
    Gene:
    SH3BP2 (Varview)
    Functional Consequence:
    3_prime_UTR_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    AA=0./0 (ALFA)
    A=0.000004/1 (TOPMED)
    A=0.000007/1 (GnomAD)
    HGVS:
    2.

    rs1491560925 has merged into rs138848543 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      GTGT>-,GT,GTGTGT,GTGTGTGT [Show Flanks]
      Chromosome:
      4:2802542 (GRCh38)
      4:2804269 (GRCh37)
      Canonical SPDI:
      NC_000004.12:2802532:TGTGTGTGTGTGT:TGTGTGTGT,NC_000004.12:2802532:TGTGTGTGTGTGT:TGTGTGTGTGT,NC_000004.12:2802532:TGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000004.12:2802532:TGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT
      Gene:
      SH3BP2 (Varview)
      Functional Consequence:
      intron_variant,genic_upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      TGTGTGTGT=0.0004/3 (ALFA)
      TG=0.0539/270 (1000Genomes)
      TG=0.35/14 (GENOME_DK)
      HGVS:
      3.

      rs1491417124 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        AT>- [Show Flanks]
        Chromosome:
        4:2827057 (GRCh38)
        4:2828784 (GRCh37)
        Canonical SPDI:
        NC_000004.12:2827056:AT:
        Gene:
        SH3BP2 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        -=0./0 (ALFA)
        -=0.000004/1 (TOPMED)
        -=0.000007/1 (GnomAD_exomes)
        HGVS:
        4.

        rs1491336114 [Homo sapiens]
          Variant type:
          INS
          Alleles:
          ->A [Show Flanks]
          Chromosome:
          4:2802485 (GRCh38)
          4:2804213 (GRCh37)
          Canonical SPDI:
          NC_000004.12:2802485::A
          Gene:
          SH3BP2 (Varview)
          Functional Consequence:
          intron_variant,genic_upstream_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          A=0./0 (ALFA)
          A=0.000022/3 (GnomAD)
          HGVS:
          5.

          rs1491323230 has merged into rs34241051 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            CC>-,C,CCC,CCCC,CCCCC [Show Flanks]
            Chromosome:
            4:2800558 (GRCh38)
            4:2802285 (GRCh37)
            Canonical SPDI:
            NC_000004.12:2800549:CCCCCCCCCC:CCCCCCCC,NC_000004.12:2800549:CCCCCCCCCC:CCCCCCCCC,NC_000004.12:2800549:CCCCCCCCCC:CCCCCCCCCCC,NC_000004.12:2800549:CCCCCCCCCC:CCCCCCCCCCCC,NC_000004.12:2800549:CCCCCCCCCC:CCCCCCCCCCCCC
            Gene:
            SH3BP2 (Varview)
            Functional Consequence:
            intron_variant,genic_upstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            CCCCCCCCC=0./0 (ALFA)
            -=0.4167/2087 (1000Genomes)
            HGVS:
            6.

            rs1491177538 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              GT>- [Show Flanks]
              Chromosome:
              4:2802488 (GRCh38)
              4:2804215 (GRCh37)
              Canonical SPDI:
              NC_000004.12:2802484:TGTGT:TGT
              Gene:
              SH3BP2 (Varview)
              Functional Consequence:
              intron_variant,genic_upstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              TGT=0./0 (ALFA)
              -=0.00008/11 (GnomAD)
              HGVS:
              7.

              rs1491150622 has merged into rs34241051 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                CC>-,C,CCC,CCCC,CCCCC [Show Flanks]
                Chromosome:
                4:2800558 (GRCh38)
                4:2802285 (GRCh37)
                Canonical SPDI:
                NC_000004.12:2800549:CCCCCCCCCC:CCCCCCCC,NC_000004.12:2800549:CCCCCCCCCC:CCCCCCCCC,NC_000004.12:2800549:CCCCCCCCCC:CCCCCCCCCCC,NC_000004.12:2800549:CCCCCCCCCC:CCCCCCCCCCCC,NC_000004.12:2800549:CCCCCCCCCC:CCCCCCCCCCCCC
                Gene:
                SH3BP2 (Varview)
                Functional Consequence:
                intron_variant,genic_upstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                CCCCCCCCC=0./0 (ALFA)
                -=0.4167/2087 (1000Genomes)
                HGVS:
                8.

                rs1491085446 has merged into rs150785584 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  AT>-,ATAT,ATATAT,ATATATAT,ATATGTGTATATATGTATATATGTGTATATGTATATATATAT [Show Flanks]
                  Chromosome:
                  4:2802588 (GRCh38)
                  4:2804315 (GRCh37)
                  Canonical SPDI:
                  NC_000004.12:2802580:TATATATAT:TATATAT,NC_000004.12:2802580:TATATATAT:TATATATATAT,NC_000004.12:2802580:TATATATAT:TATATATATATAT,NC_000004.12:2802580:TATATATAT:TATATATATATATAT,NC_000004.12:2802580:TATATATAT:TATATATATATGTGTATATATGTATATATGTGTATATGTATATATATAT
                  Gene:
                  SH3BP2 (Varview)
                  Functional Consequence:
                  genic_upstream_transcript_variant,intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  TATATATATAT=0./0 (ALFA)
                  TA=0.0301/55 (Korea1K)
                  TA=0.0667/14 (Vietnamese)
                  TA=0.125/5 (GENOME_DK)
                  TA=0.15/90 (NorthernSweden)
                  TA=0.2114/211 (GoNL)
                  HGVS:
                  9.

                  rs1491073912 has merged into rs35988257 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    AT>-,ATAT,ATATAT [Show Flanks]
                    Chromosome:
                    4:2802552 (GRCh38)
                    4:2804279 (GRCh37)
                    Canonical SPDI:
                    NC_000004.12:2802544:TATATATAT:TATATAT,NC_000004.12:2802544:TATATATAT:TATATATATAT,NC_000004.12:2802544:TATATATAT:TATATATATATAT
                    Gene:
                    SH3BP2 (Varview)
                    Functional Consequence:
                    intron_variant,genic_upstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    TATATATATAT=0./0 (ALFA)
                    TA=0.0248/5 (Vietnamese)
                    TA=0.0917/55 (NorthernSweden)
                    TA=0.1276/639 (1000Genomes)
                    HGVS:
                    10.

                    rs1491021430 has merged into rs141519244 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      TGTG>-,TG,TGTGTG,TGTGTGTG,TGTGTGTGTG [Show Flanks]
                      Chromosome:
                      4:2826401 (GRCh38)
                      4:2828128 (GRCh37)
                      Canonical SPDI:
                      NC_000004.12:2826394:TGTGTGTGTG:TGTGTG,NC_000004.12:2826394:TGTGTGTGTG:TGTGTGTG,NC_000004.12:2826394:TGTGTGTGTG:TGTGTGTGTGTG,NC_000004.12:2826394:TGTGTGTGTG:TGTGTGTGTGTGTG,NC_000004.12:2826394:TGTGTGTGTG:TGTGTGTGTGTGTGTG
                      Gene:
                      SH3BP2 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      TGTGTGTG=0./0 (ALFA)
                      TG=0.00018/3 (TOMMO)
                      HGVS:
                      11.

                      rs1490961873 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        4:2793119 (GRCh38)
                        4:2794846 (GRCh37)
                        Canonical SPDI:
                        NC_000004.12:2793118:G:A
                        Gene:
                        SH3BP2 (Varview)
                        Functional Consequence:
                        genic_upstream_transcript_variant,5_prime_UTR_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000007/1 (GnomAD)
                        A=0.000008/2 (TOPMED)
                        HGVS:
                        12.

                        rs1490937255 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A [Show Flanks]
                          Chromosome:
                          4:2792366 (GRCh38)
                          4:2794093 (GRCh37)
                          Canonical SPDI:
                          NC_000004.12:2792365:C:A
                          Gene:
                          SH3BP2 (Varview)
                          Functional Consequence:
                          upstream_transcript_variant,2KB_upstream_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000008/2 (TOPMED)
                          A=0.000156/1 (1000Genomes)
                          A=0.001416/24 (TOMMO)
                          HGVS:
                          13.

                          rs1490909755 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A,T [Show Flanks]
                            Chromosome:
                            4:2830257 (GRCh38)
                            4:2831984 (GRCh37)
                            Canonical SPDI:
                            NC_000004.12:2830256:G:A,NC_000004.12:2830256:G:T
                            Gene:
                            SH3BP2 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            T=0./0 (ALFA)
                            A=0.000008/2 (TOPMED)
                            HGVS:
                            14.

                            rs1490886145 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              4:2818625 (GRCh38)
                              4:2820352 (GRCh37)
                              Canonical SPDI:
                              NC_000004.12:2818624:C:T
                              Gene:
                              SH3BP2 (Varview)
                              Functional Consequence:
                              intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000008/2 (TOPMED)
                              HGVS:
                              15.

                              rs1490868602 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>C [Show Flanks]
                                Chromosome:
                                4:2806896 (GRCh38)
                                4:2808623 (GRCh37)
                                Canonical SPDI:
                                NC_000004.12:2806895:A:C
                                Gene:
                                SH3BP2 (Varview)
                                Functional Consequence:
                                intron_variant,genic_upstream_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                C=0./0 (ALFA)
                                HGVS:
                                17.

                                rs1490818584 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>G,T [Show Flanks]
                                  Chromosome:
                                  4:2821099 (GRCh38)
                                  4:2822826 (GRCh37)
                                  Canonical SPDI:
                                  NC_000004.12:2821098:C:G,NC_000004.12:2821098:C:T
                                  Gene:
                                  SH3BP2 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000004/1 (TOPMED)
                                  T=0.000248/4 (TOMMO)
                                  HGVS:
                                  18.

                                  rs1490793298 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    4:2823182 (GRCh38)
                                    4:2824909 (GRCh37)
                                    Canonical SPDI:
                                    NC_000004.12:2823181:C:T
                                    Gene:
                                    SH3BP2 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000008/2 (TOPMED)
                                    T=0.000014/2 (GnomAD)
                                    T=0.000177/3 (TOMMO)
                                    T=0.001028/3 (KOREAN)
                                    HGVS:
                                    19.

                                    rs1490731719 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A,C [Show Flanks]
                                      Chromosome:
                                      4:2799007 (GRCh38)
                                      4:2800734 (GRCh37)
                                      Canonical SPDI:
                                      NC_000004.12:2799006:G:A,NC_000004.12:2799006:G:C
                                      Gene:
                                      SH3BP2 (Varview)
                                      Functional Consequence:
                                      intron_variant,genic_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:
                                      20.

                                      rs1490683562 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>G,T [Show Flanks]
                                        Chromosome:
                                        4:2810648 (GRCh38)
                                        4:2812375 (GRCh37)
                                        Canonical SPDI:
                                        NC_000004.12:2810647:C:G,NC_000004.12:2810647:C:T
                                        Gene:
                                        SH3BP2 (Varview)
                                        Functional Consequence:
                                        intron_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)
                                        G=0.00046/8 (TOMMO)
                                        G=0.001092/2 (Korea1K)
                                        G=0.001711/5 (KOREAN)
                                        HGVS:

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