Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267606815
rs267606815
CUI: C0268341
Disease: Ehlers-Danlos syndrome type 5
Ehlers-Danlos syndrome type 5
T 0.700 CausalMutation CLINVAR

dbSNP: rs267606816
rs267606816
CUI: C0268341
Disease: Ehlers-Danlos syndrome type 5
Ehlers-Danlos syndrome type 5
T 0.700 CausalMutation CLINVAR

dbSNP: rs267606817
rs267606817
CUI: C0268341
Disease: Ehlers-Danlos syndrome type 5
Ehlers-Danlos syndrome type 5
T 0.700 CausalMutation CLINVAR

dbSNP: rs797045044
rs797045044
CUI: C0268341
Disease: Ehlers-Danlos syndrome type 5
Ehlers-Danlos syndrome type 5
T 0.700 GeneticVariation CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545

2016