rs1567499068, SCAPER

N. diseases: 6
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Poor school performance
CUI: C1843367
Disease: Poor school performance
0.700 CausalMutation CLINVAR SCAPER localizes to primary cilia and its mutation affects cilia length, causing Bardet-Biedl syndrome. 30723319 2019
Brachydactyly
CUI: C0221357
Disease: Brachydactyly
0.700 CausalMutation CLINVAR SCAPER localizes to primary cilia and its mutation affects cilia length, causing Bardet-Biedl syndrome. 30723319 2019
obsolete Peripheral retinopathy
CUI: C4072867
Disease: obsolete Peripheral retinopathy
0.700 CausalMutation CLINVAR SCAPER localizes to primary cilia and its mutation affects cilia length, causing Bardet-Biedl syndrome. 30723319 2019
Speech Disorders
CUI: C0037822
Disease: Speech Disorders
0.700 CausalMutation CLINVAR SCAPER localizes to primary cilia and its mutation affects cilia length, causing Bardet-Biedl syndrome. 30723319 2019
Short stature
CUI: C0349588
Disease: Short stature
0.700 CausalMutation CLINVAR SCAPER localizes to primary cilia and its mutation affects cilia length, causing Bardet-Biedl syndrome. 30723319 2019
Obesity
CUI: C0028754
Disease: Obesity
0.700 CausalMutation CLINVAR SCAPER localizes to primary cilia and its mutation affects cilia length, causing Bardet-Biedl syndrome. 30723319 2019