Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1345176461
rs1345176461
IRF2BPL ; LOC107984638
CUI: C1857108
Disease: Limitation of joint mobility
Limitation of joint mobility 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs397515789
rs397515789
FBN1
CUI: C1857108
Disease: Limitation of joint mobility
Limitation of joint mobility 		T 0.700 CausalMutation CLINVAR

dbSNP: rs878853169
rs878853169
NBEA
CUI: C1857108
Disease: Limitation of joint mobility
Limitation of joint mobility 		T 0.700 GeneticVariation CLINVAR NBEA: Developmental disease gene with early generalized epilepsy phenotypes. 30269351

2018