Disease: AICARDI-GOUTIERES SYNDROME 7 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1559810905
rs1559810905
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1
CUI: C3888244
Disease:
AICARDI-GOUTIERES SYNDROME 7 		A 0.700 CausalMutation CLINVAR An extremely severe case of Aicardi-Goutières syndrome 7 with a novel variant in IFIH1. 30965144 2020