PRKG2, protein kinase cGMP-dependent 2, 5593

N. diseases: 31; 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: rs17484474
rs17484474 		4 81204967 synonymous variant C/G snv 2.4E-02 2.4E-02
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2015 2015
dbSNP: rs3822224
rs3822224 		4 81089619 3 prime UTR variant T/C snv 4.1E-02
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs41332544
rs41332544 		0.925 0.040 4 81203180 intron variant A/G snv 1.7E-02
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.700 1.000 1 2018 2018
dbSNP: rs41332544
rs41332544 		0.925 0.040 4 81203180 intron variant A/G snv 1.7E-02
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		Musculoskeletal Diseases 0.700 1.000 1 2018 2018
dbSNP: rs710839
rs710839 		4 81213633 intron variant T/C snv 0.36
CUI: C0489786
Disease: Height
Height 		0.700 1.000 1 2011 2011
dbSNP: rs984924
rs984924 		4 81199758 intron variant A/G snv 0.20
CUI: C0678909
Disease: Brain Waves
Brain Waves 		0.700 1.000 1 2018 2018
dbSNP: rs6837293
rs6837293 		0.925 0.160 4 81141777 intron variant C/A;T snv
CUI: C0740394
Disease: Hyperuricemia
Hyperuricemia 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2009 2009
dbSNP: rs6837293
rs6837293 		0.925 0.160 4 81141777 intron variant C/A;T snv
CUI: C0018099
Disease: Gout
Gout 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.010 1.000 1 2009 2009
dbSNP: rs7688672
rs7688672 		0.925 0.160 4 81148295 intron variant G/A snv 0.39
CUI: C0018099
Disease: Gout
Gout 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.010 1.000 1 2009 2009
dbSNP: rs7688672
rs7688672 		0.925 0.160 4 81148295 intron variant G/A snv 0.39
CUI: C0740394
Disease: Hyperuricemia
Hyperuricemia 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2009 2009