Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs34754243
rs34754243
ABCG8
0.700 GeneticVariation UNIPROT Missense mutations in ABCG5 and ABCG8 disrupt heterodimerization and trafficking. 15054092

2004
dbSNP: rs34754243
rs34754243
ABCG8
0.700 GeneticVariation UNIPROT Two genes that map to the STSL locus cause sitosterolemia: genomic structure and spectrum of mutations involving sterolin-1 and sterolin-2, encoded by ABCG5 and ABCG8, respectively. 11452359

2001
dbSNP: rs34754243
rs34754243
ABCG8
0.700 GeneticVariation UNIPROT Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters. 11099417

2000