Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1559810905
rs1559810905
IFIH1
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		A 0.700 CausalMutation CLINVAR An extremely severe case of Aicardi-Goutières syndrome 7 with a novel variant in IFIH1. 30965144

2020