Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113993993
rs113993993
SBDS
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome 		G 0.700 CausalMutation CLINVAR Shwachman-Diamond syndrome: diarrhea, no longer required? 22935661

2013
dbSNP: rs113993993
rs113993993
SBDS
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome 		G 0.700 CausalMutation CLINVAR Altered intracellular localization and mobility of SBDS protein upon mutation in Shwachman-Diamond syndrome. 21695142

2011
dbSNP: rs113993993
rs113993993
SBDS
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome 		G 0.700 CausalMutation CLINVAR Novel SBDS mutations caused by gene conversion in Japanese patients with Shwachman-Diamond syndrome. 14749921

2004
dbSNP: rs113993993
rs113993993
SBDS
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome 		G 0.700 CausalMutation CLINVAR Mutations in SBDS are associated with Shwachman-Diamond syndrome. 12496757

2003