FDPS, farnesyl diphosphate synthase, 2224

N. diseases: 83; N. variants: 3
Disease: POROKERATOSIS 9, MULTIPLE TYPES ×
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: rs863225241
rs863225241 		1.000 1 155317996 missense variant G/A snv 4.0E-06
CUI: C4225262
Disease: POROKERATOSIS 9, MULTIPLE TYPES
POROKERATOSIS 9, MULTIPLE TYPES 		0.800 0
dbSNP: rs769193201
rs769193201 		1.000 1 155318292 splice donor variant G/A;T snv 4.0E-06
CUI: C4225262
Disease: POROKERATOSIS 9, MULTIPLE TYPES
POROKERATOSIS 9, MULTIPLE TYPES 		0.700 0