CPN1, carboxypeptidase N subunit 1, 1369

N. diseases: 31; N. variants: 8
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: rs61871700
rs61871700 		10 100068504 intron variant C/A;T snv
CUI: C0201973
Disease: Creatine kinase measurement
Creatine kinase measurement 		0.800 1.000 1 2013 2013
dbSNP: rs3750716
rs3750716 		0.925 0.120 10 100057106 synonymous variant C/G;T snv 6.6E-03
CUI: C0011633
Disease: Dermatomyositis
Dermatomyositis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.710 1.000 1 2016 2016
dbSNP: rs11596211
rs11596211 		10 100080362 intron variant T/A snv 0.25
CUI: C0021704
Disease: Intelligence
Intelligence 		Behavior and Behavior Mechanisms 0.700 1.000 1 2018 2018
dbSNP: rs11599750
rs11599750 		10 100045685 intron variant C/T snv 0.40
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2010 2010
dbSNP: rs11599750
rs11599750 		10 100045685 intron variant C/T snv 0.40
CUI: C0489786
Disease: Height
Height 		0.700 1.000 1 2010 2010
dbSNP: rs11599750
rs11599750 		10 100045685 intron variant C/T snv 0.40
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs4295981
rs4295981 		10 100043668 intron variant C/T snv 0.37
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs4919420
rs4919420 		10 100046495 intron variant A/G snv 0.40
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs61751507
rs61751507 		1.000 0.080 10 100069757 missense variant C/T snv 4.2E-02 3.4E-02
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs61751507
rs61751507 		1.000 0.080 10 100069757 missense variant C/T snv 4.2E-02 3.4E-02
CUI: C0398782
Disease: Carboxypeptidase N Deficiency
Carboxypeptidase N Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 2003 2003
dbSNP: rs61751507
rs61751507 		1.000 0.080 10 100069757 missense variant C/T snv 4.2E-02 3.4E-02
CUI: C0201973
Disease: Creatine kinase measurement
Creatine kinase measurement 		0.700 1.000 1 2018 2018
dbSNP: rs61871700
rs61871700 		10 100068504 intron variant C/A;T snv
CUI: C0202202
Disease: Protein measurement
Protein measurement 		0.700 1.000 1 2013 2013
dbSNP: rs61871700
rs61871700 		10 100068504 intron variant C/A;T snv
CUI: C0750863
Disease: Finding of creatine kinase level
Finding of creatine kinase level 		0.700 1.000 1 2013 2013
dbSNP: rs7084921
rs7084921 		10 100054045 intron variant C/T snv 0.44
CUI: C0177804
Disease: Bone Mineral Density Test
Bone Mineral Density Test 		0.700 1.000 1 2012 2012
dbSNP: rs3750716
rs3750716 		0.925 0.120 10 100057106 synonymous variant C/G;T snv 6.6E-03
CUI: C0221056
Disease: Adult type dermatomyositis
Adult type dermatomyositis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2016 2016