Disease: HERMANSKY-PUDLAK SYNDROME 8 ×
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: rs281865115
rs281865115 		1.000 19 45179427 stop gained C/A snv
CUI: C3888026
Disease: HERMANSKY-PUDLAK SYNDROME 8
HERMANSKY-PUDLAK SYNDROME 8 		0.700 0
dbSNP: rs281865116
rs281865116 		0.925 0.200 19 45179742 frameshift variant C/- delins
CUI: C3888026
Disease: HERMANSKY-PUDLAK SYNDROME 8
HERMANSKY-PUDLAK SYNDROME 8 		0.700 0