rs6720173

plus

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

Make rs6720173(C;C)

Make rs6720173(C;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

43813262

Gene	ABCG5, DYNC2LI1

is a	snp
is	mentioned by
dbSNP	rs6720173
dbSNP (classic)	rs6720173
ClinGen	rs6720173
ebi	rs6720173
HLI	rs6720173
Exac	rs6720173
Gnomad	rs6720173
Varsome	rs6720173
LitVar	rs6720173
Map	rs6720173
PheGenI	rs6720173
Biobank	rs6720173
1000 genomes	rs6720173
hgdp	rs6720173
ensembl	rs6720173
geneview	rs6720173
scholar	rs6720173
google	rs6720173
pharmgkb	rs6720173
gwascentral	rs6720173
openSNP	rs6720173
23andMe	rs6720173
SNPshot	rs6720173
SNPdbe	rs6720173
MSV3d	rs6720173
GWAS Ctlg	rs6720173

GMAF

0.2112

Max Magnitude

0

?

(C;C) (C;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 16507104 ] A detailed Hapmap of the Sitosterolemia locus spanning 69 kb; differences between Caucasians and African-Americans.

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

ClinVar
Risk	rs6720173(C;C)
Alt	rs6720173(C;C)
Reference	Rs6720173(G;G)
Significance	Non-pathogenic
Disease	Sitosterolemia
Variation	info
Gene	DYNC2LI1 ABCG5
CLNDBN	Sitosterolemia
Reversed	0
HGVS	NC_000002.11:g.44040401G>C
CLNSRC
CLNACC	RCV000318037.1,