Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs771541567
rs771541567
APOB
0.040 GeneticVariation BEFREE FHBL due to R463W apoB mutation is a cause of intestinal fat accumulation and postprandial lipid absorption impairment. 19344897

2009
dbSNP: rs771541567
rs771541567
APOB
0.040 GeneticVariation BEFREE Only a single amino acid substitution (R463W) has been reported as the cause of FHBL. 17570373

2007
dbSNP: rs771541567
rs771541567
APOB
0.040 GeneticVariation BEFREE We reported the first missense APOB mutation, R463W, in an FHBL kindred (Burnett, J. R., Shan, J., Miskie, B. 17588943

2007
dbSNP: rs771541567
rs771541567
APOB
0.040 GeneticVariation BEFREE Heterozygotes for R463W had the typical FHBL phenotype, whereas homozygotes had barely detectable apoB-100. 12551903

2003