Source: CURATED

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs75184679
rs75184679
RNASEH2B
0.776 0.360 13 50945445 missense variant G/A snv 1.4E-03 1.4E-03
CUI: C0393591
Disease: AICARDI-GOUTIERES SYNDROME
AICARDI-GOUTIERES SYNDROME 		0.700 1.000 11 2006 2016
dbSNP: rs138603088
rs138603088
SAMHD1
0.882 0.120 20 36930783 missense variant A/T snv 2.4E-05 2.1E-05
CUI: C0393591
Disease: AICARDI-GOUTIERES SYNDROME
AICARDI-GOUTIERES SYNDROME 		0.700 1.000 7 2009 2018
dbSNP: rs77103971
rs77103971
RNASEH2A ; HOOK2
0.925 0.120 19 12810323 missense variant C/T snv 4.0E-06 2.8E-05
CUI: C0393591
Disease: AICARDI-GOUTIERES SYNDROME
AICARDI-GOUTIERES SYNDROME 		0.700 1.000 4 2007 2013
dbSNP: rs145588689
rs145588689
ADAR
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 		0.700 1.000 2 2012 2014