TREX1, three prime repair exonuclease 1, 11277

N. diseases: 241; N. variants: 36
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: rs121908117
rs121908117 		0.708 0.440 3 48466707 missense variant G/A snv
CUI: C0393591
Disease: AICARDI-GOUTIERES SYNDROME
AICARDI-GOUTIERES SYNDROME 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases 0.030 1.000 3 2008 2012
dbSNP: rs72556554
rs72556554 		0.776 0.400 3 48466996 missense variant G/A;C snv 2.1E-04; 2.7E-04
CUI: C0393591
Disease: AICARDI-GOUTIERES SYNDROME
AICARDI-GOUTIERES SYNDROME 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases 0.030 1.000 3 2008 2017
dbSNP: rs78846775
rs78846775 		0.827 0.240 3 48467253 missense variant G/A;T snv
CUI: C0393591
Disease: AICARDI-GOUTIERES SYNDROME
AICARDI-GOUTIERES SYNDROME 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases 0.020 1.000 2 2008 2014