Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1135402760
rs1135402760
BRSK2
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		C 0.700 GeneticVariation CLINVAR Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder. 30879638

2019