Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs120074149
rs120074149
VPS13B
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		G 0.800 CausalMutation CLINVAR

dbSNP: rs120074153
rs120074153
VPS13B
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		A 0.800 CausalMutation CLINVAR

dbSNP: rs120074155
rs120074155
VPS13B
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		C 0.800 CausalMutation CLINVAR

dbSNP: rs28940272
rs28940272
VPS13B
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		G 0.800 CausalMutation CLINVAR

dbSNP: rs386834104
rs386834104
VPS13B
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		G 0.800 GeneticVariation CLINVAR

dbSNP: rs1034855385
rs1034855385
VPS13B
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516245
rs1057516245
VPS13B
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516274
rs1057516274
VPS13B
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516276
rs1057516276
VPS13B
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516284
rs1057516284
VPS13B
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		TGT 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516287
rs1057516287
VPS13B
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516302
rs1057516302
VPS13B
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516324
rs1057516324
VPS13B
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516331
rs1057516331
VPS13B
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516422
rs1057516422
VPS13B
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516437
rs1057516437
VPS13B
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516484
rs1057516484
VPS13B
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516489
rs1057516489
VPS13B
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516494
rs1057516494
VPS13B
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516495
rs1057516495
VPS13B
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516532
rs1057516532
VPS13B
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516538
rs1057516538
VPS13B
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516558
rs1057516558
VPS13B
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516559
rs1057516559
VPS13B
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516568
rs1057516568
VPS13B
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		T 0.700 GeneticVariation CLINVAR