RNASEH2A, ribonuclease H2 subunit A, 10535

N. diseases: 116; N. variants: 18
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: rs77103971
rs77103971 		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 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases 0.700 1.000 4 2007 2013