Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs575266356
rs575266356
DYNC2LI1 ; ABCG5
0.710 GeneticVariation UNIPROT Missense mutations in ABCG5 and ABCG8 disrupt heterodimerization and trafficking. 15054092

2004
dbSNP: rs575266356
rs575266356
DYNC2LI1 ; ABCG5
0.710 GeneticVariation UNIPROT In this paper we describe three novel mutations causing sitosterolemia: 1) a frameshift mutation (c.336-337insA) in ABCG5 that results in premature termination of the protein at amino acid 197; 2) a missense mutation that changes a conserved residue c.1311C>G; N437K) in ABCG5 and 3) a splice site mutation in ABCG8 (IVS1-2A>G). 11668628

2001
dbSNP: rs575266356
rs575266356
DYNC2LI1 ; ABCG5
0.710 GeneticVariation UNIPROT Identification of a gene, ABCG5, important in the regulation of dietary cholesterol absorption. 11138003

2001
dbSNP: rs575266356
rs575266356
DYNC2LI1 ; ABCG5
0.710 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: rs575266356
rs575266356
DYNC2LI1 ; ABCG5
0.710 GeneticVariation BEFREE In this paper we describe three novel mutations causing sitosterolemia: 1) a frameshift mutation (c.336-337insA) in ABCG5 that results in premature termination of the protein at amino acid 197; 2) a missense mutation that changes a conserved residue c.1311C>G; N437K) in ABCG5 and 3) a splice site mutation in ABCG8 (IVS1-2A>G). 11668628

2001