rs1057518939, VPS13B

N. diseases: 9
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hypoplastic feet
CUI: C1848673
Disease: Hypoplastic feet
0.700 CausalMutation CLINVAR
Short stature
CUI: C0349588
Disease: Short stature
0.700 CausalMutation CLINVAR
Retinal Dystrophies
CUI: C0854723
Disease: Retinal Dystrophies
0.700 CausalMutation CLINVAR
Poor school performance
CUI: C1843367
Disease: Poor school performance
0.700 CausalMutation CLINVAR
Recurrent aphthous ulcer
CUI: C2937365
Disease: Recurrent aphthous ulcer
0.700 CausalMutation CLINVAR
Progressive visual loss
CUI: C1839364
Disease: Progressive visual loss
0.700 CausalMutation CLINVAR
Neutrophil count decreased
CUI: C0853697
Disease: Neutrophil count decreased
0.700 CausalMutation CLINVAR
Small hand
CUI: C0575802
Disease: Small hand
0.700 CausalMutation CLINVAR
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
0.700 CausalMutation CLINVAR