rs4148211

plus

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

Make rs4148211(A;G)

Make rs4148211(G;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

43844604

Gene	ABCG8, LOC102725159

is a	snp
is	mentioned by
dbSNP	rs4148211
dbSNP (classic)	rs4148211
ClinGen	rs4148211
ebi	rs4148211
HLI	rs4148211
Exac	rs4148211
Gnomad	rs4148211
Varsome	rs4148211
LitVar	rs4148211
Map	rs4148211
PheGenI	rs4148211
Biobank	rs4148211
1000 genomes	rs4148211
hgdp	rs4148211
ensembl	rs4148211
geneview	rs4148211
scholar	rs4148211
google	rs4148211
pharmgkb	rs4148211
gwascentral	rs4148211
openSNP	rs4148211
23andMe	rs4148211
SNPshot	rs4148211
SNPdbe	rs4148211
MSV3d	rs4148211
GWAS Ctlg	rs4148211

GMAF

0.4412

Max Magnitude

0

?

(A;A) (A;G) (G;G)

28

[PMID 22655090 ] ATP-binding cassette transporter G5 and G8 polymorphisms and several environmental factors with serum lipid levels

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

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

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

ClinVar
Risk	rs4148211(G;G)
Alt	rs4148211(G;G)
Reference	Rs4148211(A;A)
Significance	Non-pathogenic
Disease	Sitosterolemia not specified
Variation	info
Gene	ABCG8
CLNDBN	Sitosterolemia not specified
Reversed	0
HGVS	NC_000002.11:g.44071743A>G
CLNSRC
CLNACC	RCV000315492.1, RCV000324327.1,

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