Source: CLINVAR ×
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
34 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 0.700 1.000 2 2013 2014
dbSNP: rs1057519830
rs1057519830
EGFR
1 1.000 0.040 7 55163737 missense variant C/T snv 0.700 1.000 1 2013 2013
dbSNP: rs121913231
rs121913231
EGFR
2 1.000 0.080 7 55174794 missense variant C/T snv 8.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs121913344
rs121913344
TP53
5 0.925 0.200 17 7673704 stop gained G/A;T snv 0.700 1.000 1 2014 2014
dbSNP: rs146795390
rs146795390
EGFR
1 0.827 0.080 7 55191776 missense variant G/A snv 8.0E-06 7.0E-06 0.700 1.000 1 2010 2010
dbSNP: rs77543610
rs77543610
FGFR2
12 0.667 0.560 10 121520160 missense variant G/C snv 0.700 1.000 1 2013 2013