NPNT, nephronectin, 255743

N. diseases: 55; 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: rs13112725
rs13112725 		4 105990585 intron variant G/C snv 0.70
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 4 2017 2018
dbSNP: rs34712979
rs34712979 		1.000 0.040 4 105897896 splice region variant G/A;T snv 0.17
CUI: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function 		0.700 1.000 3 2015 2019
dbSNP: rs34712979
rs34712979 		1.000 0.040 4 105897896 splice region variant G/A;T snv 0.17
CUI: C0042834
Disease: Vital capacity
Vital capacity 		0.700 1.000 2 2017 2019
dbSNP: rs56388530
rs56388530 		4 105989801 intron variant C/A;T snv
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 2 2019 2019
dbSNP: rs13112725
rs13112725 		4 105990585 intron variant G/C snv 0.70
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.700 1.000 1 2017 2017
dbSNP: rs2866784
rs2866784 		0.925 0.040 4 105992198 intron variant T/C snv 0.14
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.700 1.000 1 2018 2018
dbSNP: rs2866784
rs2866784 		0.925 0.040 4 105992198 intron variant T/C snv 0.14
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		Musculoskeletal Diseases 0.700 1.000 1 2018 2018
dbSNP: rs34712979
rs34712979 		1.000 0.040 4 105897896 splice region variant G/A;T snv 0.17
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.700 1.000 1 2019 2019
dbSNP: rs34712979
rs34712979 		1.000 0.040 4 105897896 splice region variant G/A;T snv 0.17
CUI: C0035242
Disease: Respiratory Tract Diseases
Respiratory Tract Diseases 		Respiratory Tract Diseases 0.700 1.000 1 2019 2019
dbSNP: rs34712979
rs34712979 		1.000 0.040 4 105897896 splice region variant G/A;T snv 0.17
CUI: C1518922
Disease: peak expiratory flow (procedure)
peak expiratory flow (procedure) 		0.700 1.000 1 2019 2019
dbSNP: rs56388530
rs56388530 		4 105989801 intron variant C/A;T snv
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		Cardiovascular Diseases 0.700 1.000 1 2019 2019
dbSNP: rs6856422
rs6856422 		4 105920805 intron variant G/T snv 0.59
CUI: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function 		0.700 1.000 1 2015 2015
dbSNP: rs7664805
rs7664805 		4 105922801 intron variant G/A;C snv
CUI: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function 		0.700 1.000 1 2015 2015
dbSNP: rs78213340
rs78213340 		4 105898456 intron variant T/A;C snv 5.4E-02
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018