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Items: 1 to 20 of 1000

1.

rs1491543571 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    CA>- [Show Flanks]
    Chromosome:
    3:15309916 (GRCh38)
    3:15351423 (GRCh37)
    Canonical SPDI:
    NC_000003.12:15309915:CA:
    Gene:
    SH3BP5 (Varview)
    Functional Consequence:
    intron_variant,genic_upstream_transcript_variant
    Validated:
    by frequency,by alfa
    MAF:
    -=0./0 (ALFA)
    HGVS:

    2.

    rs1491484657 [Homo sapiens]
      Variant type:
      INS
      Alleles:
      ->A,G,T [Show Flanks]
      Chromosome:
      3:15309907 (GRCh38)
      3:15351415 (GRCh37)
      Canonical SPDI:
      NC_000003.12:15309907::A,NC_000003.12:15309907::G,NC_000003.12:15309907::T
      Gene:
      SH3BP5 (Varview)
      Functional Consequence:
      intron_variant,genic_upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0./0 (ALFA)
      G=0.00046/7 (TOMMO)
      G=0.00055/1 (Korea1K)
      HGVS:

      3.

      rs1491483878 has merged into rs11358968 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        AAAAAAAAAAA>-,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA [Show Flanks]
        Chromosome:
        3:15304823 (GRCh38)
        3:15346330 (GRCh37)
        Canonical SPDI:
        NC_000003.12:15304814:AAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000003.12:15304814:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:15304814:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:15304814:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:15304814:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:15304814:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:15304814:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:15304814:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:15304814:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:15304814:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000003.12:15304814:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:15304814:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:15304814:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:15304814:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
        Gene:
        SH3BP5 (Varview)
        Functional Consequence:
        intron_variant,genic_upstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        AAAAAAAAAAAA=0./0 (ALFA)
        -=0.000008/2 (TOPMED)
        -=0.187857/724 (ALSPAC)
        -=0.455072/2279 (1000Genomes)
        HGVS:
        NC_000003.12:g.15304823_15304833del, NC_000003.12:g.15304827_15304833del, NC_000003.12:g.15304828_15304833del, NC_000003.12:g.15304829_15304833del, NC_000003.12:g.15304830_15304833del, NC_000003.12:g.15304831_15304833del, NC_000003.12:g.15304832_15304833del, NC_000003.12:g.15304833del, NC_000003.12:g.15304833dup, NC_000003.12:g.15304832_15304833dup, NC_000003.12:g.15304831_15304833dup, NC_000003.12:g.15304830_15304833dup, NC_000003.12:g.15304829_15304833dup, NC_000003.12:g.15304828_15304833dup, NC_000003.11:g.15346330_15346340del, NC_000003.11:g.15346334_15346340del, NC_000003.11:g.15346335_15346340del, NC_000003.11:g.15346336_15346340del, NC_000003.11:g.15346337_15346340del, NC_000003.11:g.15346338_15346340del, NC_000003.11:g.15346339_15346340del, NC_000003.11:g.15346340del, NC_000003.11:g.15346340dup, NC_000003.11:g.15346339_15346340dup, NC_000003.11:g.15346338_15346340dup, NC_000003.11:g.15346337_15346340dup, NC_000003.11:g.15346336_15346340dup, NC_000003.11:g.15346335_15346340dup

        4.

        rs1491422955 [Homo sapiens]
          Variant type:
          DEL
          Alleles:
          AG>- [Show Flanks]
          Chromosome:
          3:15294290 (GRCh38)
          3:15335797 (GRCh37)
          Canonical SPDI:
          NC_000003.12:15294289:AG:
          Gene:
          SH3BP5 (Varview)
          Functional Consequence:
          intron_variant,genic_upstream_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          -=0./0 (ALFA)
          -=0.00001/1 (GnomAD)
          HGVS:

          5.

          rs1491421798 has merged into rs61530998 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            TTTT>-,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT [Show Flanks]
            Chromosome:
            3:15264288 (GRCh38)
            3:15305795 (GRCh37)
            Canonical SPDI:
            NC_000003.12:15264278:TTTTTTTTTTTTT:TTTTTTTTT,NC_000003.12:15264278:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000003.12:15264278:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000003.12:15264278:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:15264278:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:15264278:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:15264278:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT
            Gene:
            SH3BP5 (Varview), SH3BP5-AS1 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            TTTTTTTTTTT=0./0 (ALFA)
            TT=0.12109/449 (TWINSUK)
            TT=0.125/5 (GENOME_DK)
            TT=0.12558/484 (ALSPAC)
            TT=0.20607/1032 (1000Genomes)
            HGVS:

            6.

            rs1491420179 has merged into rs1553619762 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              CC>-,CCCC,CCCCC,CCCCCC,CCCCCCC [Show Flanks]
              Chromosome:
              3:15320643 (GRCh38)
              3:15362150 (GRCh37)
              Canonical SPDI:
              NC_000003.12:15320640:CCCC:CC,NC_000003.12:15320640:CCCC:CCCCCC,NC_000003.12:15320640:CCCC:CCCCCCC,NC_000003.12:15320640:CCCC:CCCCCCCC,NC_000003.12:15320640:CCCC:CCCCCCCCC
              Gene:
              SH3BP5 (Varview)
              Functional Consequence:
              intron_variant,genic_upstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              CCCCCC=0./0 (ALFA)
              -=0.000004/1 (TOPMED)
              HGVS:

              7.

              rs1491416947 [Homo sapiens]
                Variant type:
                DEL
                Alleles:
                AG>- [Show Flanks]
                Chromosome:
                3:15337083 (GRCh38)
                3:15378590 (GRCh37)
                Canonical SPDI:
                NC_000003.12:15337082:AG:
                Gene:
                SH3BP5 (Varview)
                Functional Consequence:
                intron_variant,genic_upstream_transcript_variant
                Validated:
                by frequency,by cluster
                MAF:
                -=0.0228/88 (ALSPAC)
                -=0.0259/96 (TWINSUK)
                HGVS:

                8.

                rs1491329852 [Homo sapiens]
                  Variant type:
                  DEL
                  Alleles:
                  CA>- [Show Flanks]
                  Chromosome:
                  3:15276019 (GRCh38)
                  3:15317526 (GRCh37)
                  Canonical SPDI:
                  NC_000003.12:15276018:CA:
                  Gene:
                  SH3BP5 (Varview)
                  Functional Consequence:
                  intron_variant,genic_upstream_transcript_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  -=0./0 (ALFA)
                  HGVS:

                  9.

                  rs1491288471 [Homo sapiens]
                    Variant type:
                    DEL
                    Alleles:
                    AT>- [Show Flanks]
                    Chromosome:
                    3:15257832 (GRCh38)
                    3:15299339 (GRCh37)
                    Canonical SPDI:
                    NC_000003.12:15257831:AT:
                    Gene:
                    SH3BP5 (Varview), SH3BP5-AS1 (Varview)
                    Functional Consequence:
                    intron_variant
                    HGVS:

                    10.

                    rs1491286643 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      ->AGTG,G [Show Flanks]
                      Chromosome:
                      3:15294290 (GRCh38)
                      3:15335798 (GRCh37)
                      Canonical SPDI:
                      NC_000003.12:15294290:G:GAGTG,NC_000003.12:15294290:G:GG
                      Gene:
                      SH3BP5 (Varview)
                      Functional Consequence:
                      intron_variant,genic_upstream_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      GG=0./0 (ALFA)
                      GAGT=0.000031/4 (GnomAD)
                      HGVS:

                      11.

                      rs1491198453 [Homo sapiens]
                        Variant type:
                        DEL
                        Alleles:
                        CT>- [Show Flanks]
                        Chromosome:
                        3:15296694 (GRCh38)
                        3:15338201 (GRCh37)
                        Canonical SPDI:
                        NC_000003.12:15296693:CT:
                        Gene:
                        SH3BP5 (Varview)
                        Functional Consequence:
                        intron_variant,genic_upstream_transcript_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        -=0./0 (ALFA)
                        HGVS:

                        12.

                        rs1491172507 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          AA>- [Show Flanks]
                          Chromosome:
                          3:15255263 (GRCh38)
                          3:15296770 (GRCh37)
                          Canonical SPDI:
                          NC_000003.12:15255261:AAA:A
                          Gene:
                          SH3BP5 (Varview), SH3BP5-AS1 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,3_prime_UTR_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          A=0./0 (ALFA)
                          -=0.000007/1 (GnomAD)
                          HGVS:

                          13.

                          rs1491162185 [Homo sapiens]
                            Variant type:
                            DEL
                            Alleles:
                            CA>- [Show Flanks]
                            Chromosome:
                            3:15304814 (GRCh38)
                            3:15346321 (GRCh37)
                            Canonical SPDI:
                            NC_000003.12:15304813:CA:
                            Gene:
                            SH3BP5 (Varview)
                            Functional Consequence:
                            intron_variant,genic_upstream_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            -=0./0 (ALFA)
                            HGVS:

                            14.

                            rs1491097343 [Homo sapiens]
                              Variant type:
                              INS
                              Alleles:
                              ->G [Show Flanks]
                              Chromosome:
                              3:15264279 (GRCh38)
                              3:15305787 (GRCh37)
                              Canonical SPDI:
                              NC_000003.12:15264279::G
                              Gene:
                              SH3BP5 (Varview), SH3BP5-AS1 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000008/2 (TOPMED)
                              G=0.000014/1 (GnomAD)
                              HGVS:

                              15.

                              rs1491090241 [Homo sapiens]
                                Variant type:
                                INS
                                Alleles:
                                ->TGCA,TGTGCA,TGTGTGCA [Show Flanks]
                                Chromosome:
                                3:15294331 (GRCh38)
                                3:15335839 (GRCh37)
                                Canonical SPDI:
                                NC_000003.12:15294331::TGCA,NC_000003.12:15294331::TGTGCA,NC_000003.12:15294331::TGTGTGCA
                                Gene:
                                SH3BP5 (Varview)
                                Functional Consequence:
                                intron_variant,genic_upstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                TGTGCA=0./0 (ALFA)
                                TGTGTGCA=0.000004/1 (TOPMED)
                                HGVS:

                                16.

                                rs1491084158 has merged into rs59276192 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  AAAAAAAAA>-,A,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA [Show Flanks]
                                  Chromosome:
                                  3:15318540 (GRCh38)
                                  3:15360047 (GRCh37)
                                  Canonical SPDI:
                                  NC_000003.12:15318530:AAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000003.12:15318530:AAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000003.12:15318530:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:15318530:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:15318530:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:15318530:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:15318530:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:15318530:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:15318530:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:15318530:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000003.12:15318530:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:15318530:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA
                                  Gene:
                                  SH3BP5 (Varview)
                                  Functional Consequence:
                                  genic_upstream_transcript_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  AAAAAAAAAA=0./0 (ALFA)
                                  -=0.000004/1 (TOPMED)
                                  A=0.254792/1276 (1000Genomes)
                                  HGVS:
                                  NC_000003.12:g.15318540_15318548del, NC_000003.12:g.15318541_15318548del, NC_000003.12:g.15318543_15318548del, NC_000003.12:g.15318545_15318548del, NC_000003.12:g.15318546_15318548del, NC_000003.12:g.15318547_15318548del, NC_000003.12:g.15318548del, NC_000003.12:g.15318548dup, NC_000003.12:g.15318547_15318548dup, NC_000003.12:g.15318546_15318548dup, NC_000003.12:g.15318545_15318548dup, NC_000003.12:g.15318544_15318548dup, NC_000003.11:g.15360047_15360055del, NC_000003.11:g.15360048_15360055del, NC_000003.11:g.15360050_15360055del, NC_000003.11:g.15360052_15360055del, NC_000003.11:g.15360053_15360055del, NC_000003.11:g.15360054_15360055del, NC_000003.11:g.15360055del, NC_000003.11:g.15360055dup, NC_000003.11:g.15360054_15360055dup, NC_000003.11:g.15360053_15360055dup, NC_000003.11:g.15360052_15360055dup, NC_000003.11:g.15360051_15360055dup

                                  17.

                                  rs1491080390 has merged into rs5846865 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    AA>-,A,AAA,AAAA,AAAAA [Show Flanks]
                                    Chromosome:
                                    3:15316741 (GRCh38)
                                    3:15358248 (GRCh37)
                                    Canonical SPDI:
                                    NC_000003.12:15316730:AAAAAAAAAAAA:AAAAAAAAAA,NC_000003.12:15316730:AAAAAAAAAAAA:AAAAAAAAAAA,NC_000003.12:15316730:AAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:15316730:AAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:15316730:AAAAAAAAAAAA:AAAAAAAAAAAAAAA
                                    Gene:
                                    SH3BP5 (Varview), LOC124906370 (Varview)
                                    Functional Consequence:
                                    500B_downstream_variant,intron_variant,downstream_transcript_variant,genic_upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    AAAAAAAAAAA=0./0 (ALFA)
                                    -=0.4682/1325 (1000Genomes)
                                    HGVS:

                                    18.

                                    rs1491035011 has merged into rs370667091 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      CC>-,C,CCC,CCCC,CCCCC [Show Flanks]
                                      Chromosome:
                                      3:15254513 (GRCh38)
                                      3:15296020 (GRCh37)
                                      Canonical SPDI:
                                      NC_000003.12:15254506:CCCCCCCC:CCCCCC,NC_000003.12:15254506:CCCCCCCC:CCCCCCC,NC_000003.12:15254506:CCCCCCCC:CCCCCCCCC,NC_000003.12:15254506:CCCCCCCC:CCCCCCCCCC,NC_000003.12:15254506:CCCCCCCC:CCCCCCCCCCC
                                      Gene:
                                      SH3BP5 (Varview), SH3BP5-AS1 (Varview)
                                      Functional Consequence:
                                      3_prime_UTR_variant,non_coding_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      CCCCCCCCCC=0./0 (ALFA)
                                      C=0.00601/6 (GoNL)
                                      C=0.01923/4 (Vietnamese)
                                      -=0.0873/425 (1000Genomes)
                                      HGVS:
                                      NC_000003.12:g.15254513_15254514del, NC_000003.12:g.15254514del, NC_000003.12:g.15254514dup, NC_000003.12:g.15254513_15254514dup, NC_000003.12:g.15254512_15254514dup, NC_000003.11:g.15296020_15296021del, NC_000003.11:g.15296021del, NC_000003.11:g.15296021dup, NC_000003.11:g.15296020_15296021dup, NC_000003.11:g.15296019_15296021dup, NM_004844.5:c.*1578_*1579del, NM_004844.5:c.*1579del, NM_004844.5:c.*1579dup, NM_004844.5:c.*1578_*1579dup, NM_004844.5:c.*1577_*1579dup, NM_004844.4:c.*1578_*1579del, NM_004844.4:c.*1579del, NM_004844.4:c.*1579dup, NM_004844.4:c.*1578_*1579dup, NM_004844.4:c.*1577_*1579dup, NM_001018009.4:c.*1578_*1579del, NM_001018009.4:c.*1579del, NM_001018009.4:c.*1579dup, NM_001018009.4:c.*1578_*1579dup, NM_001018009.4:c.*1577_*1579dup, NM_001018009.3:c.*1578_*1579del, NM_001018009.3:c.*1579del, NM_001018009.3:c.*1579dup, NM_001018009.3:c.*1578_*1579dup, NM_001018009.3:c.*1577_*1579dup, XM_011534251.3:c.*1578_*1579del, XM_011534251.3:c.*1579del, XM_011534251.3:c.*1579dup, XM_011534251.3:c.*1578_*1579dup, XM_011534251.3:c.*1577_*1579dup, XM_017007525.2:c.*1578_*1579del, XM_017007525.2:c.*1579del, XM_017007525.2:c.*1579dup, XM_017007525.2:c.*1578_*1579dup, XM_017007525.2:c.*1577_*1579dup, NR_046084.1:n.330_331del, NR_046084.1:n.331del, NR_046084.1:n.331dup, NR_046084.1:n.330_331dup, NR_046084.1:n.329_331dup, XM_047449240.1:c.*1578_*1579del, XM_047449240.1:c.*1579del, XM_047449240.1:c.*1579dup, XM_047449240.1:c.*1578_*1579dup, XM_047449240.1:c.*1577_*1579dup, XM_047449244.1:c.*1578_*1579del, XM_047449244.1:c.*1579del, XM_047449244.1:c.*1579dup, XM_047449244.1:c.*1578_*1579dup, XM_047449244.1:c.*1577_*1579dup, XM_047449241.1:c.*1578_*1579del, XM_047449241.1:c.*1579del, XM_047449241.1:c.*1579dup, XM_047449241.1:c.*1578_*1579dup, XM_047449241.1:c.*1577_*1579dup, XM_047449242.1:c.*1578_*1579del, XM_047449242.1:c.*1579del, XM_047449242.1:c.*1579dup, XM_047449242.1:c.*1578_*1579dup, XM_047449242.1:c.*1577_*1579dup, XM_047449245.1:c.*1578_*1579del, XM_047449245.1:c.*1579del, XM_047449245.1:c.*1579dup, XM_047449245.1:c.*1578_*1579dup, XM_047449245.1:c.*1577_*1579dup

                                      19.

                                      rs1490987613 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C,G [Show Flanks]
                                        Chromosome:
                                        3:15264234 (GRCh38)
                                        3:15305741 (GRCh37)
                                        Canonical SPDI:
                                        NC_000003.12:15264233:T:C,NC_000003.12:15264233:T:G
                                        Gene:
                                        SH3BP5 (Varview), SH3BP5-AS1 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000007/1 (GnomAD)
                                        HGVS:

                                        20.

                                        rs1490916366 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          G>- [Show Flanks]
                                          Chromosome:
                                          3:15279509 (GRCh38)
                                          3:15321016 (GRCh37)
                                          Canonical SPDI:
                                          NC_000003.12:15279508:GGGG:GGG
                                          Gene:
                                          SH3BP5 (Varview)
                                          Functional Consequence:
                                          intron_variant,genic_upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          GGG=0.000071/1 (ALFA)
                                          -=0.000007/1 (GnomAD)
                                          -=0.000011/3 (TOPMED)
                                          HGVS:

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