FDPS, farnesyl diphosphate synthase, 2224

N. diseases: 83; N. variants: 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: 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
dbSNP: rs2297480
rs2297480 		0.851 0.280 1 155309691 non coding transcript exon variant T/G snv 0.28
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.010 1.000 1 2011 2011
dbSNP: rs2297480
rs2297480 		0.851 0.280 1 155309691 non coding transcript exon variant T/G snv 0.28
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2011 2011
dbSNP: rs2297480
rs2297480 		0.851 0.280 1 155309691 non coding transcript exon variant T/G snv 0.28
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2011 2011
dbSNP: rs2297480
rs2297480 		0.851 0.280 1 155309691 non coding transcript exon variant T/G snv 0.28
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.010 1.000 1 2019 2019