SETBP1, SET binding protein 1, 26040

N. diseases: 257; N. variants: 28
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267607038
rs267607038
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C0003886
Disease:
Arthrogryposis
C 0.700 CausalMutation CLINVAR The genomic and clinical landscape of fetal akinesia. 31680123 2020