Source: CURATED ×
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: rs118203682
rs118203682
TSC1
5 0.882 0.160 9 132902640 stop gained G/A snv 0.700 0
dbSNP: rs121909231
rs121909231
PTEN
29 0.667 0.600 10 87961095 stop gained C/A;T snv 0.700 0
dbSNP: rs45517403
rs45517403
TSC2
2 1.000 0.040 16 2088143 missense variant A/C;G snv 0.700 0
dbSNP: rs879255280
rs879255280
SMO
15 0.701 0.200 7 129206557 missense variant C/T snv 0.700 0
dbSNP: rs886041091
rs886041091
NTRK2
18 0.807 0.120 9 84751990 missense variant A/G snv 0.700 0