RNASEH2C, ribonuclease H2 subunit C, 84153

N. diseases: 120; N. variants: 11
Disease: AICARDI-GOUTIERES SYNDROME 3 ×
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: rs75328625
rs75328625 		1.000 0.120 11 65720721 missense variant C/T snv 4.6E-06
CUI: C1835916
Disease: AICARDI-GOUTIERES SYNDROME 3
AICARDI-GOUTIERES SYNDROME 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases 0.700 1.000 3 2006 2010