STX1A, syntaxin 1A, 6804

N. diseases: 74; N. variants: 9
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: rs2228607
rs2228607 		0.925 0.160 7 73708593 synonymous variant A/G snv 0.51 0.53
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 2013 2013
dbSNP: rs4363087
rs4363087 		0.925 0.160 7 73703866 3 prime UTR variant T/C snv 0.42 0.32
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 2013 2013