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: rs376048533
rs376048533
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1
CUI: C3888244
Disease:
AICARDI-GOUTIERES SYNDROME 7 		T 0.700 CausalMutation CLINVAR Further evidence for specific IFIH1 mutation as a cause of Singleton-Merten syndrome with phenotypic heterogeneity. 28319323 2017
dbSNP: rs376048533
rs376048533
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1
CUI: C3888244
Disease:
AICARDI-GOUTIERES SYNDROME 7 		T 0.700 CausalMutation CLINVAR A specific IFIH1 gain-of-function mutation causes Singleton-Merten syndrome. 25620204 2015