Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1135402760
rs1135402760
Entrez Id: 9024
Gene Symbol: BRSK2
BRSK2
CUI: C0557874
Disease:
Global developmental delay
C 0.700 GeneticVariation CLINVAR Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder. 30879638 2019
dbSNP: rs1554904159
rs1554904159
Entrez Id: 9024;107984298
Gene Symbol: BRSK2;LOC107984298
BRSK2;LOC107984298
CUI: C0557874
Disease:
Global developmental delay
A 0.700 CausalMutation CLINVAR Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder. 30879638 2019