CP, ceruloplasmin, 1356

N. diseases: 283; N. variants: 64
Disease: HERMANSKY-PUDLAK SYNDROME 3 ×
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: rs1277509410
rs1277509410 		1.000 3 149167180 frameshift variant GAGA/- delins 2.1E-05
CUI: C3888001
Disease: HERMANSKY-PUDLAK SYNDROME 3
HERMANSKY-PUDLAK SYNDROME 3 		0.700 0
dbSNP: rs281865095
rs281865095 		0.925 0.200 3 149163950 splice donor variant G/A;C;T snv 4.0E-06; 4.0E-06; 1.2E-05
CUI: C3888001
Disease: HERMANSKY-PUDLAK SYNDROME 3
HERMANSKY-PUDLAK SYNDROME 3 		0.700 0
dbSNP: rs397507168
rs397507168 		0.925 0.200 3 149163840 splice acceptor variant A/G snv 8.0E-06
CUI: C3888001
Disease: HERMANSKY-PUDLAK SYNDROME 3
HERMANSKY-PUDLAK SYNDROME 3 		0.700 0