Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267607038
rs267607038
SETBP1
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		C 0.700 CausalMutation CLINVAR The genomic and clinical landscape of fetal akinesia. 31680123

2020