Source: CLINVAR

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: rs189150283
rs189150283
LZTR1
0.925 22 20992304 stop gained C/T snv 6.0E-05 7.0E-05
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs189150283
rs189150283
LZTR1
0.925 22 20992304 stop gained C/T snv 6.0E-05 7.0E-05
CUI: C3810283
Disease: SCHWANNOMATOSIS 2
SCHWANNOMATOSIS 2 		0.700 0
dbSNP: rs189150283
rs189150283
LZTR1
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