PAPPA2, pappalysin 2, 60676

N. diseases: 28; N. variants: 13
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: rs1325598
rs1325598 		1 176823113 intron variant A/G snv 0.62
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 2 2010 2015
dbSNP: rs1044299
rs1044299 		1 176842737 3 prime UTR variant C/G;T snv
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs1044299
rs1044299 		1 176842737 3 prime UTR variant C/G;T snv
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		0.700 1.000 1 2019 2019
dbSNP: rs10913200
rs10913200 		1 176552519 intron variant G/A snv 1.8E-02
CUI: C0005612
Disease: Birth Weight
Birth Weight 		Pathological Conditions, Signs and Symptoms 0.700 1.000 1 2019 2019
dbSNP: rs10913213
rs10913213 		1 176594124 intron variant C/G snv 0.32
CUI: C1314691
Disease: Age at menarche
Age at menarche 		Behavior and Behavior Mechanisms 0.700 1.000 1 2019 2019
dbSNP: rs115607791
rs115607791 		1 176689885 intron variant A/G snv 5.8E-03
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs1325598
rs1325598 		1 176823113 intron variant A/G snv 0.62
CUI: C0489786
Disease: Height
Height 		0.700 1.000 1 2010 2010
dbSNP: rs201111080
rs201111080 		1 176670971 missense variant G/T snv 1.9E-04 1.8E-04
CUI: C0017741
Disease: Glucose tolerance test
Glucose tolerance test 		0.700 1.000 1 2017 2017
dbSNP: rs4233168
rs4233168 		1 176530924 intron variant A/T snv 0.94
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs4507975
rs4507975 		1 176715296 intron variant A/G snv 0.32
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		Cardiovascular Diseases 0.700 1.000 1 2013 2013
dbSNP: rs5778914
rs5778914 		1 176818614 intron variant T/- del 0.65
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs6689901
rs6689901 		0.925 0.040 1 176653062 intron variant A/T snv 0.18
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		Musculoskeletal Diseases 0.700 1.000 1 2018 2018
dbSNP: rs6689901
rs6689901 		0.925 0.040 1 176653062 intron variant A/T snv 0.18
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.700 1.000 1 2018 2018
dbSNP: rs7515586
rs7515586 		1 176466431 intron variant C/T snv 0.13
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 1 2012 2012
dbSNP: rs7531549
rs7531549 		1 176464908 intron variant G/A;T snv
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 1 2012 2012
dbSNP: rs726252
rs726252 		1.000 0.080 1 176691111 3 prime UTR variant C/T snv 0.55
CUI: C4551649
Disease: Congenital Dysplasia Of The Hip
Congenital Dysplasia Of The Hip 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.020 1.000 2 2012 2014