Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121917846
rs121917846
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 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: rs28942110
rs28942110
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: rs121917846
rs121917846
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 SIL1 and SARA2 mutations in Marinesco-Sjögren and chylomicron retention diseases. 17309654 2007
dbSNP: rs28942110
rs28942110
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: rs121917846
rs121917846
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 		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: rs28942110
rs28942110
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: rs121917846
rs121917846
Entrez Id: 51128
Gene Symbol: SAR1B
SAR1B
CUI: C0795956
Disease:
Chylomicron retention disease 		T 0.800 CausalMutation CLINVAR
dbSNP: rs28942109
rs28942109
Entrez Id: 51128
Gene Symbol: SAR1B
SAR1B
CUI: C0795956
Disease:
Chylomicron retention disease 		T 0.800 CausalMutation CLINVAR
dbSNP: rs28942110
rs28942110
Entrez Id: 51128
Gene Symbol: SAR1B
SAR1B
CUI: C0795956
Disease:
Chylomicron retention disease 		T 0.800 CausalMutation CLINVAR
dbSNP: rs1254114609
rs1254114609
Entrez Id: 51128
Gene Symbol: SAR1B
SAR1B
CUI: C0795956
Disease:
Chylomicron retention disease 		0.700 GeneticVariation UNIPROT
dbSNP: rs137853125
rs137853125
Entrez Id: 51128
Gene Symbol: SAR1B
SAR1B
CUI: C0795956
Disease:
Chylomicron retention disease 		A 0.700 CausalMutation CLINVAR
dbSNP: rs137853126
rs137853126
Entrez Id: 51128
Gene Symbol: SAR1B
SAR1B
CUI: C0795956
Disease:
Chylomicron retention disease 		A 0.700 CausalMutation CLINVAR
dbSNP: rs28942109
rs28942109
Entrez Id: 51128
Gene Symbol: SAR1B
SAR1B
CUI: C0151718
Disease:
Hypocholesterolemia 		0.010 GeneticVariation BEFREE Finally, genotype-phenotype correlation is not obvious in our cohort with CRD; even if, the Canadian subjects with the allele 409G>A had a more severe degree (P<0.001) of hypocholesterolemia than the other patients, many clinical data are inconsistent with a hypothetical genotype-phenotype correlation. 19285442 2009
dbSNP: rs28942109
rs28942109
Entrez Id: 51128
Gene Symbol: SAR1B
SAR1B
CUI: C3489532
Disease:
Cone-Rod Dystrophy 2 		0.010 GeneticVariation BEFREE Finally, genotype-phenotype correlation is not obvious in our cohort with CRD; even if, the Canadian subjects with the allele 409G>A had a more severe degree (P<0.001) of hypocholesterolemia than the other patients, many clinical data are inconsistent with a hypothetical genotype-phenotype correlation. 19285442 2009