SBDS, SBDS ribosome maturation factor, 51119

N. diseases: 105; N. variants: 17
Disease: SHWACHMAN-DIAMOND SYNDROME 1 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113993992
rs113993992
Entrez Id: 51119
Gene Symbol: SBDS
SBDS
CUI: C4692625
Disease:
SHWACHMAN-DIAMOND SYNDROME 1 		G 0.700 CausalMutation CLINVAR