Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs727503110
rs727503110
KRAS
0.882 0.160 12 25245320 missense variant T/A;C snv
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		0.800 0
dbSNP: rs727503110
rs727503110
KRAS
0.882 0.160 12 25245320 missense variant T/A;C snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.700 1.000 5 2002 2011
dbSNP: rs727503110
rs727503110
KRAS
0.882 0.160 12 25245320 missense variant T/A;C snv
CUI: C3809005
Disease: CARDIOFACIOCUTANEOUS SYNDROME 2
CARDIOFACIOCUTANEOUS SYNDROME 2 		0.700 0