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: C0575802
Disease: Small hand
Small hand 		C 0.700 CausalMutation CLINVAR

dbSNP: rs1057518939
rs1057518939
VPS13B
CUI: C0853697
Disease: Neutrophil count decreased
Neutrophil count decreased 		C 0.700 CausalMutation CLINVAR

dbSNP: rs1057518939
rs1057518939
VPS13B
CUI: C2937365
Disease: Recurrent aphthous ulcer
Recurrent aphthous ulcer 		C 0.700 CausalMutation CLINVAR

dbSNP: rs1057518939
rs1057518939
VPS13B
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet 		C 0.700 CausalMutation CLINVAR

dbSNP: rs1057518939
rs1057518939
VPS13B
CUI: C0349588
Disease: Short stature
Short stature 		C 0.700 CausalMutation CLINVAR

dbSNP: rs1057518939
rs1057518939
VPS13B
CUI: C1839364
Disease: Progressive visual loss
Progressive visual loss 		C 0.700 CausalMutation CLINVAR

dbSNP: rs1057518939
rs1057518939
VPS13B
CUI: C1843367
Disease: Poor school performance
Poor school performance 		C 0.700 CausalMutation CLINVAR

dbSNP: rs1057518939
rs1057518939
VPS13B
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		C 0.700 CausalMutation CLINVAR

dbSNP: rs1057518939
rs1057518939
VPS13B
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		C 0.700 CausalMutation CLINVAR