RPS28, ribosomal protein S28, 6234

N. diseases: 38; N. variants: 1
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs786203997
rs786203997
Entrez Id: 4701;6234
Gene Symbol: NDUFA7;RPS28
NDUFA7;RPS28
CUI: C4225411
Disease:
DIAMOND-BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS 		G 0.700 CausalMutation CLINVAR