PRCP, prolylcarboxypeptidase, 5547

N. diseases: 68; N. variants: 7
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: rs10898041
rs10898041
11 82860272 intron variant G/A snv 0.14
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement
0.700 1.000 1 2018 2018
dbSNP: rs12289095
rs12289095
0.882 0.120 11 82858764 5 prime UTR variant G/A snv 0.13
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis
Musculoskeletal Diseases 0.700 1.000 1 2018 2018
dbSNP: rs12289095
rs12289095
0.882 0.120 11 82858764 5 prime UTR variant G/A snv 0.13
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
0.700 1.000 1 2018 2018
dbSNP: rs12289095
rs12289095
0.882 0.120 11 82858764 5 prime UTR variant G/A snv 0.13
CUI: C0027404
Disease: Narcolepsy
Narcolepsy
Nervous System Diseases; Mental Disorders 0.700 1.000 1 2009 2009
dbSNP: rs2229437
rs2229437
11 82853252 missense variant T/A;G snv 1.6E-05; 0.16
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement
0.700 1.000 1 2018 2018
dbSNP: rs1268970749
rs1268970749
11 82838473 synonymous variant T/C snv 4.0E-06
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs2229437
rs2229437
11 82853252 missense variant T/A;G snv 1.6E-05; 0.16
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
Cardiovascular Diseases 0.010 1.000 1 2006 2006
dbSNP: rs2298668
rs2298668
11 82853252 missense variant T/A;G snv
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
Cardiovascular Diseases 0.010 1.000 1 2006 2006
dbSNP: rs7104980
rs7104980
1.000 0.040 11 82864153 intron variant C/G snv 0.52
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension
Cardiovascular Diseases 0.010 1.000 1 2013 2013
dbSNP: rs749455351
rs749455351
11 82824910 missense variant T/C snv 1.6E-05
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2015 2015