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: C4692625
Disease: SHWACHMAN-DIAMOND SYNDROME 1
SHWACHMAN-DIAMOND SYNDROME 1 		G 0.700 CausalMutation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015
dbSNP: rs113993993
rs113993993
SBDS
CUI: C4692625
Disease: SHWACHMAN-DIAMOND SYNDROME 1
SHWACHMAN-DIAMOND SYNDROME 1 		G 0.700 CausalMutation CLINVAR Young-age-onset pancreatoduodenal carcinoma in Shwachman-Diamond syndrome. 24629175

2014
dbSNP: rs113993993
rs113993993
SBDS
CUI: C4692625
Disease: SHWACHMAN-DIAMOND SYNDROME 1
SHWACHMAN-DIAMOND SYNDROME 1 		G 0.700 CausalMutation CLINVAR Variable clinical presentation of Shwachman-Diamond syndrome: update from the North American Shwachman-Diamond Syndrome Registry. 24388329

2014
dbSNP: rs113993993
rs113993993
SBDS
CUI: C4692625
Disease: SHWACHMAN-DIAMOND SYNDROME 1
SHWACHMAN-DIAMOND SYNDROME 1 		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 Shwachman-Diamond syndrome: diarrhea, no longer required? 22935661

2013
dbSNP: rs113993993
rs113993993
SBDS
CUI: C4692625
Disease: SHWACHMAN-DIAMOND SYNDROME 1
SHWACHMAN-DIAMOND SYNDROME 1 		G 0.700 CausalMutation CLINVAR Acquired copy number neutral loss of heterozygosity of chromosome 7 associated with clonal haematopoiesis in a patient with Shwachman-Diamond syndrome. 22934832

2012
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: C4692625
Disease: SHWACHMAN-DIAMOND SYNDROME 1
SHWACHMAN-DIAMOND SYNDROME 1 		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: C4692625
Disease: SHWACHMAN-DIAMOND SYNDROME 1
SHWACHMAN-DIAMOND SYNDROME 1 		G 0.700 CausalMutation CLINVAR The isochromosome i(7)(q10) carrying c.258+2t>c mutation of the SBDS gene does not promote development of myeloid malignancies in patients with Shwachman syndrome. 19148133

2009
dbSNP: rs113993993
rs113993993
SBDS
CUI: C4692625
Disease: SHWACHMAN-DIAMOND SYNDROME 1
SHWACHMAN-DIAMOND SYNDROME 1 		G 0.700 CausalMutation CLINVAR The Shwachman-Diamond SBDS protein localizes to the nucleolus. 15860664

2005
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: C4692625
Disease: SHWACHMAN-DIAMOND SYNDROME 1
SHWACHMAN-DIAMOND SYNDROME 1 		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
dbSNP: rs113993993
rs113993993
SBDS
CUI: C4692625
Disease: SHWACHMAN-DIAMOND SYNDROME 1
SHWACHMAN-DIAMOND SYNDROME 1 		G 0.700 CausalMutation CLINVAR Mutations in SBDS are associated with Shwachman-Diamond syndrome. 12496757

2003
dbSNP: rs113993993
rs113993993
SBDS
CUI: C0349588
Disease: Short stature
Short stature 		G 0.700 CausalMutation CLINVAR

dbSNP: rs113993993
rs113993993
SBDS
CUI: C0457756
Disease: Tooth absent
Tooth absent 		G 0.700 CausalMutation CLINVAR

dbSNP: rs113993993
rs113993993
SBDS
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		G 0.700 CausalMutation CLINVAR

dbSNP: rs113993993
rs113993993
SBDS
CUI: C0002874
Disease: Aplastic Anemia
Aplastic Anemia 		G 0.700 CausalMutation CLINVAR

dbSNP: rs113993993
rs113993993
SBDS
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		G 0.700 CausalMutation CLINVAR

dbSNP: rs113993993
rs113993993
SBDS
CUI: C4692625
Disease: SHWACHMAN-DIAMOND SYNDROME 1
SHWACHMAN-DIAMOND SYNDROME 1 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs113993993
rs113993993
SBDS
CUI: C2684859
Disease: APLASTIC ANEMIA, SUSCEPTIBILITY TO (finding)
APLASTIC ANEMIA, SUSCEPTIBILITY TO (finding) 		G 0.700 SusceptibilityMutation CLINVAR

dbSNP: rs113993993
rs113993993
SBDS
CUI: C0038002
Disease: Splenomegaly
Splenomegaly 		G 0.700 CausalMutation CLINVAR