Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387906639
rs387906639
HARS1 ; DND1
CUI: C3281066
Disease: USHER SYNDROME, TYPE IIIB
USHER SYNDROME, TYPE IIIB 		0.800 GeneticVariation UNIPROT Genetic mapping and exome sequencing identify variants associated with five novel diseases. 22279524

2012
dbSNP: rs387906639
rs387906639
HARS1 ; DND1
CUI: C3281066
Disease: USHER SYNDROME, TYPE IIIB
USHER SYNDROME, TYPE IIIB 		G 0.800 CausalMutation CLINVAR