Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777447
rs587777447
IFIH1
0.800 GeneticVariation UNIPROT Aicardi-Goutières syndrome is caused by IFIH1 mutations. 24995871

2014
dbSNP: rs587777447
rs587777447
IFIH1
0.800 GeneticVariation UNIPROT Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling. 24686847

2014
dbSNP: rs587777447
rs587777447
IFIH1
C 0.800 CausalMutation CLINVAR