rs4148217

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs4148217(A;A)

Make rs4148217(A;C)

Reference

GRCh38 38.1/141

Chromosome

2

Position

43872294

Gene

ABCG8

is a	snp
is	mentioned by
dbSNP	rs4148217
dbSNP (classic)	rs4148217
ClinGen	rs4148217
ebi	rs4148217
HLI	rs4148217
Exac	rs4148217
Gnomad	rs4148217
Varsome	rs4148217
LitVar	rs4148217
Map	rs4148217
PheGenI	rs4148217
Biobank	rs4148217
1000 genomes	rs4148217
hgdp	rs4148217
ensembl	rs4148217
geneview	rs4148217
scholar	rs4148217
google	rs4148217
pharmgkb	rs4148217
gwascentral	rs4148217
openSNP	rs4148217
23andMe	rs4148217
SNPshot	rs4148217
SNPdbe	rs4148217
MSV3d	rs4148217
GWAS Ctlg	rs4148217

GMAF

0.2181

Max Magnitude

0

?

(A;A) (A;C) (C;C)

28

[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 22548731 ] Association of ATP binding cassette transporter G8 rs4148217 SNP and serum lipid levels in Mulao and Han nationalities

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

[PMID 18778477 ] 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 19005228 ] The effects of ABCG5/G8 polymorphisms on plasma HDL cholesterol concentrations depend on smoking habit in the Boston Puerto Rican Health Study.

ClinVar
Risk	rs4148217(A;A) rs4148217(T;T)
Alt	rs4148217(A;A) rs4148217(T;T)
Reference	Rs4148217(C;C)
Significance	Non-pathogenic
Disease	not specified Sitosterolemia
Variation	info
Gene	ABCG8
CLNDBN	not specified Sitosterolemia
Reversed	0
HGVS	NC_000002.11:g.44099433C>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000180363.1, RCV000289049.1,

[PMID 32647408 ] Association of Common Single Nucleotide Polymorphisms of Candidate Genes with Gallstone Disease: A Meta-Analysis.