Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1567499068
rs1567499068
Entrez Id: 49855
Gene Symbol: SCAPER
SCAPER
CUI: C0349588
Disease:
Short stature
A 0.700 CausalMutation CLINVAR SCAPER localizes to primary cilia and its mutation affects cilia length, causing Bardet-Biedl syndrome. 30723319 2019