ADAR, adenosine deaminase RNA specific, 103

N. diseases: 256; N. variants: 32
Disease: AICARDI-GOUTIERES SYNDROME ×
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: rs145588689
rs145588689 		0.882 0.200 1 154602065 missense variant G/C;T snv 2.2E-03; 4.0E-06
CUI: C0393591
Disease: AICARDI-GOUTIERES SYNDROME
AICARDI-GOUTIERES SYNDROME 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases 0.700 1.000 2 2012 2014