rs137852993

Orientation

plus

Stabilized

plus

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

Make rs137852993(A;A)

Make rs137852993(A;C)

Reference

GRCh38 38.1/141

Chromosome

2

Position

43852483

Gene

ABCG8

is a	snp
is	mentioned by
dbSNP	rs137852993
dbSNP (classic)	rs137852993
ClinGen	rs137852993
ebi	rs137852993
HLI	rs137852993
Exac	rs137852993
Gnomad	rs137852993
Varsome	rs137852993
LitVar	rs137852993
Map	rs137852993
PheGenI	rs137852993
Biobank	rs137852993
1000 genomes	rs137852993
hgdp	rs137852993
ensembl	rs137852993
geneview	rs137852993
scholar	rs137852993
google	rs137852993
pharmgkb	rs137852993
gwascentral	rs137852993
openSNP	rs137852993
23andMe	rs137852993
SNPshot	rs137852993
SNPdbe	rs137852993
MSV3d	rs137852993
GWAS Ctlg	rs137852993

Max Magnitude

0

OMIM	605460
Desc
Variant	0008
Related	also

ClinVar
Risk	rs137852993(A;A)
Alt	rs137852993(A;A)
Reference	Rs137852993(C;C)
Significance	Pathogenic
Disease	Sitosterolemia
Variation	info
Gene	ABCG8
CLNDBN	Sitosterolemia
Reversed	0
HGVS	NC_000002.11:g.44079622C>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000005262.3,