rs137852990

Orientation

plus

Stabilized

plus

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

Make rs137852990(A;A)

Make rs137852990(A;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

43852692

Gene

ABCG8

is a	snp
is	mentioned by
dbSNP	rs137852990
dbSNP (classic)	rs137852990
ClinGen	rs137852990
ebi	rs137852990
HLI	rs137852990
Exac	rs137852990
Gnomad	rs137852990
Varsome	rs137852990
LitVar	rs137852990
Map	rs137852990
PheGenI	rs137852990
Biobank	rs137852990
1000 genomes	rs137852990
hgdp	rs137852990
ensembl	rs137852990
geneview	rs137852990
scholar	rs137852990
google	rs137852990
pharmgkb	rs137852990
gwascentral	rs137852990
openSNP	rs137852990
23andMe	rs137852990
SNPshot	rs137852990
SNPdbe	rs137852990
MSV3d	rs137852990
GWAS Ctlg	rs137852990

GMAF

0.0009183

Max Magnitude

0

OMIM	605460
Desc
Variant	0004
Related	also

ClinVar
Risk	rs137852990(A;A)
Alt	rs137852990(A;A)
Reference	Rs137852990(G;G)
Significance	Pathogenic
Disease	Sitosterolemia
Variation	info
Gene	ABCG8
CLNDBN	Sitosterolemia
Reversed	0
HGVS	NC_000002.11:g.44079831G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000005258.2,