PTDSS1, phosphatidylserine synthase 1, 9791

N. diseases: 94; 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: rs587777088
rs587777088 		1.000 0.240 8 96309607 missense variant A/G snv
CUI: C0432269
Disease: Lenz Majewski hyperostotic dwarfism
Lenz Majewski hyperostotic dwarfism 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.800 1.000 1 2014 2014
dbSNP: rs587777089
rs587777089 		1.000 0.240 8 96304092 missense variant C/T snv
CUI: C0432269
Disease: Lenz Majewski hyperostotic dwarfism
Lenz Majewski hyperostotic dwarfism 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.800 1.000 1 2014 2014
dbSNP: rs587777090
rs587777090 		1.000 0.240 8 96304081 missense variant T/C snv
CUI: C0432269
Disease: Lenz Majewski hyperostotic dwarfism
Lenz Majewski hyperostotic dwarfism 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.800 1.000 1 2014 2014