PITRM1, pitrilysin metallopeptidase 1, 10531

N. diseases: 11; 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: rs3740607
rs3740607 		10 3147188 synonymous variant C/T snv 0.53 0.50
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs7094698
rs7094698 		1.000 0.080 10 3141555 3 prime UTR variant A/G snv 0.69
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.700 1.000 1 2011 2011
dbSNP: rs1249144069
rs1249144069 		0.925 0.200 10 3165320 missense variant C/T snv 1.4E-05
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.010 1.000 1 2016 2016
dbSNP: rs1249144069
rs1249144069 		0.925 0.200 10 3165320 missense variant C/T snv 1.4E-05
CUI: C0033975
Disease: Psychotic Disorders
Psychotic Disorders 		Mental Disorders 0.010 1.000 1 2016 2016
dbSNP: rs1249144069
rs1249144069 		0.925 0.200 10 3165320 missense variant C/T snv 1.4E-05
CUI: C0442874
Disease: Neuropathy
Neuropathy 		Nervous System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1249144069
rs1249144069 		0.925 0.200 10 3165320 missense variant C/T snv 1.4E-05
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.010 1.000 1 2016 2016
dbSNP: rs1249144069
rs1249144069 		0.925 0.200 10 3165320 missense variant C/T snv 1.4E-05
CUI: C0349204
Disease: Nonorganic psychosis
Nonorganic psychosis 		Mental Disorders 0.010 1.000 1 2016 2016