P2RY2, purinergic receptor P2Y2, 5029

N. diseases: 136; N. variants: 10
Disease: Cystic Fibrosis ×
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: rs1626154
rs1626154 		1.000 0.120 11 73235159 missense variant C/A;G;T snv 4.1E-06; 1.0E-04; 0.15
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.010 1.000 1 2006 2006
dbSNP: rs2511241
rs2511241 		1.000 0.120 11 73234296 missense variant C/G;T snv 4.0E-06; 0.93
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.010 1.000 1 2006 2006
dbSNP: rs3741156
rs3741156 		1.000 0.120 11 73235095 missense variant G/A;C snv 0.29 0.20
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.010 1.000 1 2006 2006