Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057518939
rs1057518939
VPS13B
CUI: C0349588
Disease: Short stature
Short stature 		C 0.700 CausalMutation CLINVAR

dbSNP: rs386834061
rs386834061
VPS13B
CUI: C0349588
Disease: Short stature
Short stature 		T 0.700 CausalMutation CLINVAR