Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs397515453
rs397515453
PIK3R1
11 0.752 0.440 5 68296301 missense variant C/T snv 0.820 1.000 10 2013 2018
dbSNP: rs397514047
rs397514047
PIK3R1
1 1.000 0.160 5 68294575 missense variant G/A snv 0.800 1.000 3 2013 2013
dbSNP: rs587777709
rs587777709
PIK3R1
3 0.882 0.160 5 68293835 splice donor variant G/A;C;T snv 0.700 1.000 4 2012 2016
dbSNP: rs1561299903
rs1561299903
PIK3R1
3 0.882 0.160 5 68295287 frameshift variant -/T delins 0.700 1.000 3 2013 2014
dbSNP: rs797045063
rs797045063
PIK3R1
1 1.000 0.160 5 68294570 missense variant T/C snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519838
rs1057519838
PIK3R1
4 0.882 0.160 5 68293790 stop gained C/T snv 0.700 0
dbSNP: rs398122384
rs398122384
PIK3R1
1 1.000 0.160 5 68296298 frameshift variant -/T delins 0.700 0
dbSNP: rs398122385
rs398122385
PIK3R1
1 1.000 0.160 5 68296262 frameshift variant -/C ins 0.700 0
dbSNP: rs515726149
rs515726149
PIK3R1
1 1.000 0.160 5 68296248 missense variant G/A snv 0.700 0
dbSNP: rs515726150
rs515726150
PIK3R1
1 1.000 0.160 5 68296260 frameshift variant AA/- delins 0.700 0
dbSNP: rs515726151
rs515726151
PIK3R1
1 1.000 0.160 5 68296327 stop gained T/G snv 0.700 0
dbSNP: rs587784325
rs587784325
PIK3R1
1 1.000 0.160 5 68293187 missense variant C/T snv 0.700 0