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rs6544718

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0
(T;T)
Make rs6544718(C;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position43877786
GeneABCG8
is asnp
is mentioned by
dbSNPrs6544718
ebirs6544718
HLIrs6544718
Exacrs6544718
Varsomers6544718
Maprs6544718
PheGenIrs6544718
hapmaprs6544718
1000 genomesrs6544718
hgdprs6544718
ensemblrs6544718
gopubmedrs6544718
geneviewrs6544718
scholarrs6544718
googlers6544718
pharmgkbrs6544718
gwascentralrs6544718
openSNPrs6544718
23andMers6544718
23andMe allrs6544718
SNP Nexus

SNPshotrs6544718
SNPdbers6544718
MSV3drs6544718
GWAS Ctlgrs6544718
GMAF0.1065
Max Magnitude0
? (C;C) (C;T) (T;T) 28
Venter snp
Source plos
Gene ABCG8
allele C
frequency 0.208
sift TOLERATED
HuRef 1103658083737
Disease Association Defects in ABCG8 are a cause of sitosterolemia (MIM:210250); also known as phytosterolemia or shellfish sterolemia. It is a rare autosomal recessive disorder characterized by increased intestinal absorption of all sterols including cholesterol, plant and shellfish sterols, and decreased biliary excretion of dietary sterols into bile. Sitosterolemia patients have hypercholesterolemia, very high levels of plant sterols in the plasma, and frequently develop tendon and tuberous xanthomas, accelerated atherosclerosis and premature coronary artery disease.



[PMID 15996216OA-icon.png] Sitosterolaemia in Switzerland: molecular genetics links the US Amish-Mennonites to their European roots.


[PMID 16507104OA-icon.png] A detailed Hapmap of the Sitosterolemia locus spanning 69 kb; differences between Caucasians and African-Americans.


[PMID 20170916] Association of selected ABC gene family single nucleotide polymorphisms with postprandial lipoproteins: results from the population-based Hortega study.


GET Evidence
ABCG8-V632A
aa_change Val632Ala
aa_change_short V632A
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.838632
summary



[PMID 25920552] Lipids, obesity and gallbladder disease in women: insights from genetic studies using the cardiovascular gene-centric 50K SNP array