Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918383
rs121918383
APOB
A 0.700 CausalMutation CLINVAR

dbSNP: rs121918384
rs121918384
APOB
A 0.700 CausalMutation CLINVAR

dbSNP: rs121918385
rs121918385
APOB
T 0.700 CausalMutation CLINVAR

dbSNP: rs121918386
rs121918386
APOB
A 0.700 CausalMutation CLINVAR

dbSNP: rs121918387
rs121918387
APOB
C 0.700 CausalMutation CLINVAR

dbSNP: rs121918389
rs121918389
APOB
A 0.700 CausalMutation CLINVAR

dbSNP: rs121918390
rs121918390
APOB
A 0.700 CausalMutation CLINVAR

dbSNP: rs1553383898
rs1553383898
APOB
C 0.700 CausalMutation CLINVAR

dbSNP: rs1553384177
rs1553384177
APOB
C 0.700 CausalMutation CLINVAR

dbSNP: rs1553384441
rs1553384441
APOB
CCTAAG 0.700 CausalMutation CLINVAR

dbSNP: rs1553385404
rs1553385404
APOB
T 0.700 CausalMutation CLINVAR

dbSNP: rs281865425
rs281865425
APOB
C 0.700 CausalMutation CLINVAR

dbSNP: rs387906569
rs387906569
APOB
T 0.700 CausalMutation CLINVAR

dbSNP: rs397514255
rs397514255
APOB
G 0.700 CausalMutation CLINVAR

dbSNP: rs397514256
rs397514256
APOB
A 0.700 CausalMutation CLINVAR

dbSNP: rs587776852
rs587776852
APOB
T 0.700 CausalMutation CLINVAR

dbSNP: rs606231236
rs606231236
APOB
ACC 0.700 CausalMutation CLINVAR

dbSNP: rs759934326
rs759934326
APOB
A 0.700 CausalMutation CLINVAR

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
dbSNP: rs369067856
rs369067856
PCSK9
0.010 GeneticVariation BEFREE Compared to control cells, cells originally derived from an individual with ADH (HLC-S127R) secreted less PCSK9 in the media (-38.5%; P=0.038) and had a 71% decrease (P<0.001) of low-density lipoprotein (LDL) uptake, whereas cells originally derived from an individual with FHBL (HLC-R104C/V114A) displayed a strong decrease in PCSK9 secretion (-89.7%; P<0.001) and had a 106% increase (P=0.0104) of LDL uptake. 26586530

2016
dbSNP: rs775988212
rs775988212
PCSK9
0.010 GeneticVariation BEFREE Compared to control cells, cells originally derived from an individual with ADH (HLC-S127R) secreted less PCSK9 in the media (-38.5%; P=0.038) and had a 71% decrease (P<0.001) of low-density lipoprotein (LDL) uptake, whereas cells originally derived from an individual with FHBL (HLC-R104C/V114A) displayed a strong decrease in PCSK9 secretion (-89.7%; P<0.001) and had a 106% increase (P=0.0104) of LDL uptake. 26586530

2016
dbSNP: rs879254464
rs879254464
LDLR
0.010 GeneticVariation BEFREE Compared to control cells, cells originally derived from an individual with ADH (HLC-S127R) secreted less PCSK9 in the media (-38.5%; P=0.038) and had a 71% decrease (P<0.001) of low-density lipoprotein (LDL) uptake, whereas cells originally derived from an individual with FHBL (HLC-R104C/V114A) displayed a strong decrease in PCSK9 secretion (-89.7%; P<0.001) and had a 106% increase (P=0.0104) of LDL uptake. 26586530

2016