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: rs104886003
rs104886003
PIK3CA
71 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs121913279
rs121913279
PIK3CA
101 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs150579345
rs150579345
NTRK1
1 1 156876508 missense variant G/A snv 1.4E-04 9.8E-05 0.010 1.000 1 2015 2015
dbSNP: rs752742313
rs752742313
PIK3CB
36 0.637 0.320 3 138655502 missense variant C/T snv 1.2E-05 0.010 1.000 1 2015 2015
dbSNP: rs759471657
rs759471657
NTRK1
1 1 156876418 stop gained G/A;C;T snv 1.2E-05; 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs762560832
rs762560832
FLT4
1 5 180620995 missense variant G/A snv 2.8E-05 4.9E-05 0.010 1.000 1 2012 2012