Disease: Chylomicron retention disease ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28942109
rs28942109
Entrez Id: 51128
Gene Symbol: SAR1B
SAR1B
CUI: C0795956
Disease:
Chylomicron retention disease 		T 0.800 GeneticVariation CLINVAR Chylomicron retention disease: a long term study of two cohorts. 19285442 2009
dbSNP: rs28942109
rs28942109
Entrez Id: 51128
Gene Symbol: SAR1B
SAR1B
CUI: C0795956
Disease:
Chylomicron retention disease 		0.800 GeneticVariation UNIPROT Novel missense mutations of SAR1B gene in an infant with chylomicron retention disease. 19274794 2009
dbSNP: rs28942109
rs28942109
Entrez Id: 51128
Gene Symbol: SAR1B
SAR1B
CUI: C0795956
Disease:
Chylomicron retention disease 		T 0.800 GeneticVariation CLINVAR Anderson or chylomicron retention disease: molecular impact of five mutations in the SAR1B gene on the structure and the functionality of Sar1b protein. 17945526 2008
dbSNP: rs28942109
rs28942109
Entrez Id: 51128
Gene Symbol: SAR1B
SAR1B
CUI: C0795956
Disease:
Chylomicron retention disease 		0.800 GeneticVariation UNIPROT SIL1 and SARA2 mutations in Marinesco-Sjögren and chylomicron retention diseases. 17309654 2007
dbSNP: rs28942109
rs28942109
Entrez Id: 51128
Gene Symbol: SAR1B
SAR1B
CUI: C0795956
Disease:
Chylomicron retention disease 		0.800 GeneticVariation UNIPROT Mutations in a Sar1 GTPase of COPII vesicles are associated with lipid absorption disorders. 12692552 2003
dbSNP: rs28942109
rs28942109
Entrez Id: 51128
Gene Symbol: SAR1B
SAR1B
CUI: C0795956
Disease:
Chylomicron retention disease 		T 0.800 GeneticVariation CLINVAR Mutations in a Sar1 GTPase of COPII vesicles are associated with lipid absorption disorders. 12692552 2003
dbSNP: rs28942109
rs28942109
Entrez Id: 51128
Gene Symbol: SAR1B
SAR1B
CUI: C0795956
Disease:
Chylomicron retention disease 		T 0.800 CausalMutation CLINVAR