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rs4148217

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs4148217(A;A)
Make rs4148217(A;C)
ReferenceGRCh38 38.1/141
Chromosome2
Position43872294
GeneABCG8
is asnp
is mentioned by
dbSNPrs4148217
ebirs4148217
HLIrs4148217
Exacrs4148217
Varsomers4148217
Maprs4148217
PheGenIrs4148217
hapmaprs4148217
1000 genomesrs4148217
hgdprs4148217
ensemblrs4148217
gopubmedrs4148217
geneviewrs4148217
scholarrs4148217
googlers4148217
pharmgkbrs4148217
gwascentralrs4148217
openSNPrs4148217
23andMers4148217
23andMe allrs4148217
SNP Nexus

SNPshotrs4148217
SNPdbers4148217
MSV3drs4148217
GWAS Ctlgrs4148217
GMAF0.2181
Max Magnitude0
? (A;A) (A;C) (C;C) 28


Venter snp
Source plos
Gene ABCG8
allele A
frequency 0.254
sift TOLERATED
HuRef 1103658083729
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 21062971] Cholesterol Metabolism Gene Polymorphisms and the Risk of Biliary Tract Cancers and Stones: A Population-Based Case-Control Study in Shanghai, China


[PMID 22548731OA-icon.png] Association of ATP binding cassette transporter G8 rs4148217 SNP and serum lipid levels in Mulao and Han nationalities


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


[PMID 18778477OA-icon.png] Genomic variation in myeloma: design, content, and initial application of the Bank On A Cure SNP Panel to detect associations with progression-free survival.


[PMID 19005228OA-icon.png] The effects of ABCG5/G8 polymorphisms on plasma HDL cholesterol concentrations depend on smoking habit in the Boston Puerto Rican Health Study.


GET Evidence
ABCG8-T400K
aa_change Thr400Lys
aa_change_short T400K
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.21965
summary



ClinVar
Risk rs4148217(A;A)
Alt rs4148217(A;A)
Reference rs4148217(C;C)
Significance Non-pathogenic
Disease not specified
Variation info
Gene ABCG8
CLNDBN not specified
Reversed 0
HGVS NC_000002.11:g.44099433C>A
CLNSRC
CLNACC RCV000180363.1,