RNASEH2A, ribonuclease H2 subunit A, 10535

N. diseases: 116; N. variants: 18
Disease: AICARDI-GOUTIERES SYNDROME 4 ×
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: rs397515479
rs397515479 		1.000 0.120 19 12806748 synonymous variant C/T snv
CUI: C1835912
Disease: AICARDI-GOUTIERES SYNDROME 4
AICARDI-GOUTIERES SYNDROME 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases 0.700 0