SBDS, SBDS ribosome maturation factor, 51119

N. diseases: 105; N. variants: 17
Disease: Shwachman syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113993997
rs113993997
Entrez Id: 51119
Gene Symbol: SBDS
SBDS
CUI: C0272170
Disease:
Shwachman syndrome 		G 0.700 CausalMutation CLINVAR