RNASEH2A, ribonuclease H2 subunit A, 10535

N. diseases: 116; N. variants: 18
Disease: AICARDI-GOUTIERES SYNDROME 4 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397515479
rs397515479
Entrez Id: 10535;29911
Gene Symbol: RNASEH2A;HOOK2
RNASEH2A;HOOK2
CUI: C1835912
Disease:
AICARDI-GOUTIERES SYNDROME 4 		T 0.700 CausalMutation CLINVAR