Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs779453109
rs779453109
HNRNPU
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		C 0.700 CausalMutation CLINVAR Clinical and molecular characterization of de novo loss of function variants in HNRNPU. 28815871

2017