PRKCSH, protein kinase C substrate 80K-H, 5589

N. diseases: 44; N. variants: 5
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: rs313624
rs313624 		1.000 0.080 19 11442095 intron variant A/G snv 0.63
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 2013 2013
dbSNP: rs139991238
rs139991238 		1.000 0.120 19 11441305 missense variant G/A snv 1.5E-03 1.3E-03
CUI: C0267834
Disease: Liver cyst
Liver cyst 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs1460548929
rs1460548929 		0.925 0.040 19 11442432 missense variant A/G snv 4.0E-06
CUI: C1536085
Disease: Geographic Atrophy
Geographic Atrophy 		Eye Diseases 0.010 1.000 1 2009 2009
dbSNP: rs1460548929
rs1460548929 		0.925 0.040 19 11442432 missense variant A/G snv 4.0E-06
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.010 1.000 1 2009 2009
dbSNP: rs151207349
rs151207349 		0.925 0.040 19 11441343 missense variant C/T snv 7.0E-04 5.7E-04
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.010 1.000 1 2009 2009
dbSNP: rs151207349
rs151207349 		0.925 0.040 19 11441343 missense variant C/T snv 7.0E-04 5.7E-04
CUI: C1536085
Disease: Geographic Atrophy
Geographic Atrophy 		Eye Diseases 0.010 1.000 1 2009 2009
dbSNP: rs746231889
rs746231889 		1.000 0.120 19 11447152 missense variant C/A;G;T snv 4.0E-06; 1.9E-04
CUI: C0085413
Disease: Polycystic Kidney, Autosomal Dominant
Polycystic Kidney, Autosomal Dominant 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 < 0.001 1 2005 2005