Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113993991
rs113993991
SBDS
AG 0.710 CausalMutation CLINVAR Association of isochromosome (7)(q10) in Shwachman-Diamond syndrome with the severity of cytopenia. 29375851

2018
dbSNP: rs113993991
rs113993991
SBDS
AG 0.710 CausalMutation CLINVAR Spectrum and prevalence of genetic predisposition in medulloblastoma: a retrospective genetic study and prospective validation in a clinical trial cohort. 29753700

2018
dbSNP: rs113993991
rs113993991
SBDS
AG 0.710 CausalMutation CLINVAR Diffuse alterations in grey and white matter associated with cognitive impairment in Shwachman-Diamond syndrome: evidence from a multimodal approach. 25844324

2015
dbSNP: rs113993991
rs113993991
SBDS
AG 0.710 CausalMutation CLINVAR Shwachman-Diamond syndrome (SDS) in a preterm neonate. 26081292

2015
dbSNP: rs113993991
rs113993991
SBDS
AG 0.710 CausalMutation CLINVAR Two cases of Shwachman-Diamond syndrome in adolescents confirmed by genetic analysis. 25729736

2015
dbSNP: rs113993991
rs113993991
SBDS
AG 0.710 CausalMutation CLINVAR Variable clinical presentation of Shwachman-Diamond syndrome: update from the North American Shwachman-Diamond Syndrome Registry. 24388329

2014
dbSNP: rs113993991
rs113993991
SBDS
AG 0.710 CausalMutation CLINVAR Young-age-onset pancreatoduodenal carcinoma in Shwachman-Diamond syndrome. 24629175

2014
dbSNP: rs113993991
rs113993991
SBDS
AG 0.710 CausalMutation CLINVAR Shwachman-Diamond syndrome: diarrhea, no longer required? 22935661

2013
dbSNP: rs113993991
rs113993991
SBDS
AG 0.710 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: rs113993991
rs113993991
SBDS
AG 0.710 CausalMutation CLINVAR Altered intracellular localization and mobility of SBDS protein upon mutation in Shwachman-Diamond syndrome. 21695142

2011
dbSNP: rs113993991
rs113993991
SBDS
AG 0.710 CausalMutation CLINVAR These data are consistent with absence of homozygosity for the common K62X truncation mutation in individuals with SDS, indicating that the SDS disease phenotype is a consequence of expression of hypomorphic SBDS alleles and that complete loss of SBDS function is likely to be lethal. 15701631

2005
dbSNP: rs113993991
rs113993991
SBDS
AG 0.710 CausalMutation CLINVAR The Shwachman-Diamond SBDS protein localizes to the nucleolus. 15860664

2005
dbSNP: rs113993991
rs113993991
SBDS
0.710 GeneticVariation BEFREE We further show that the common SDS-related K62X truncation is non-functional. 15701631

2005
dbSNP: rs113993991
rs113993991
SBDS
AG 0.710 CausalMutation CLINVAR Novel SBDS mutations caused by gene conversion in Japanese patients with Shwachman-Diamond syndrome. 14749921

2004
dbSNP: rs113993991
rs113993991
SBDS
AG 0.710 CausalMutation CLINVAR Congenital aplastic anemia caused by mutations in the SBDS gene: a rare presentation of Shwachman-Diamond syndrome. 15342903

2004
dbSNP: rs113993991
rs113993991
SBDS
AG 0.710 CausalMutation CLINVAR Mutations in SBDS are associated with Shwachman-Diamond syndrome. 12496757

2003