Disease: NOONAN SYNDROME 10 ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1223430276
rs1223430276 		1.000 22 20991684 missense variant G/A snv 7.0E-06
CUI: C4225280
Disease: NOONAN SYNDROME 10
NOONAN SYNDROME 10 		0.800 1.000 7 2006 2019
dbSNP: rs797045165
rs797045165 		0.925 22 20991686 missense variant C/T snv 7.0E-06
CUI: C4225280
Disease: NOONAN SYNDROME 10
NOONAN SYNDROME 10 		0.800 1.000 6 2015 2019
dbSNP: rs797045166
rs797045166 		1.000 22 20990474 missense variant G/A snv
CUI: C4225280
Disease: NOONAN SYNDROME 10
NOONAN SYNDROME 10 		0.800 1.000 6 2015 2019
dbSNP: rs148677674
rs148677674 		0.882 0.160 22 20994988 missense variant C/A;T snv 2.4E-05; 1.6E-04
CUI: C4225280
Disease: NOONAN SYNDROME 10
NOONAN SYNDROME 10 		0.700 0
dbSNP: rs189150283
rs189150283 		0.925 22 20992304 stop gained C/T snv 6.0E-05 7.0E-05
CUI: C4225280
Disease: NOONAN SYNDROME 10
NOONAN SYNDROME 10 		0.700 0
dbSNP: rs869320686
rs869320686 		0.882 22 20990476 missense variant G/A snv
CUI: C4225280
Disease: NOONAN SYNDROME 10
NOONAN SYNDROME 10 		0.700 0