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: rs120074160
rs120074160
Entrez Id: 51119
Gene Symbol: SBDS
SBDS
CUI: C0272170
Disease:
Shwachman syndrome 		0.010 GeneticVariation BEFREE We further show that the common SDS-related K62X truncation is non-functional. 15701631 2005