Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs386834061
rs386834061
VPS13B
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		T 0.700 GeneticVariation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015
dbSNP: rs386834061
rs386834061
VPS13B
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		T 0.700 GeneticVariation CLINVAR Clinical and molecular characterization of Italian patients affected by Cohen syndrome. 17990063

2007
dbSNP: rs386834061
rs386834061
VPS13B
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		T 0.700 GeneticVariation CLINVAR Allelic heterogeneity in the COH1 gene explains clinical variability in Cohen syndrome. 15154116

2004
dbSNP: rs386834061
rs386834061
VPS13B
CUI: C2937365
Disease: Recurrent aphthous ulcer
Recurrent aphthous ulcer 		T 0.700 CausalMutation CLINVAR

dbSNP: rs386834061
rs386834061
VPS13B
CUI: C0853697
Disease: Neutrophil count decreased
Neutrophil count decreased 		T 0.700 CausalMutation CLINVAR

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

dbSNP: rs386834061
rs386834061
VPS13B
CUI: C1839364
Disease: Progressive visual loss
Progressive visual loss 		T 0.700 CausalMutation CLINVAR

dbSNP: rs386834061
rs386834061
VPS13B
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		T 0.700 CausalMutation CLINVAR

dbSNP: rs386834061
rs386834061
VPS13B
CUI: C1843367
Disease: Poor school performance
Poor school performance 		T 0.700 CausalMutation CLINVAR

dbSNP: rs386834061
rs386834061
VPS13B
CUI: C0575802
Disease: Small hand
Small hand 		T 0.700 CausalMutation CLINVAR

dbSNP: rs386834061
rs386834061
VPS13B
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		T 0.700 CausalMutation CLINVAR

dbSNP: rs386834061
rs386834061
VPS13B
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet 		T 0.700 CausalMutation CLINVAR