rs376048533, IFIH1

N. diseases: 4
Disease: Singleton Merten syndrome ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Singleton Merten syndrome
CUI: C0432254
Disease: Singleton Merten syndrome
0.020 GeneticVariation BEFREE These data confirm the pathogenicity of IFIH1 c.2465G>A p.(Arg822Gln) for Singleton-Merten syndrome and affirm the striking phenotypic heterogeneity of this disorder. 28319323 2017
Singleton Merten syndrome
CUI: C0432254
Disease: Singleton Merten syndrome
0.020 GeneticVariation BEFREE More recently, mutations in IFIH1 were reported in a variety of neuroimmunological phenotypes, including Aicardi-Goutières syndrome, while a specific Arg822Gln mutation in IFIH1 was described in 3 discrete families with Singleton-Merten syndrome (SMS). 28475458 2017