rs137852991

Orientation

plus

Stabilized

plus

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

Make rs137852991(C;T)

Make rs137852991(T;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

43873809

Gene

ABCG8

is a	snp
is	mentioned by
dbSNP	rs137852991
dbSNP (classic)	rs137852991
ClinGen	rs137852991
ebi	rs137852991
HLI	rs137852991
Exac	rs137852991
Gnomad	rs137852991
Varsome	rs137852991
LitVar	rs137852991
Map	rs137852991
PheGenI	rs137852991
Biobank	rs137852991
1000 genomes	rs137852991
hgdp	rs137852991
ensembl	rs137852991
geneview	rs137852991
scholar	rs137852991
google	rs137852991
pharmgkb	rs137852991
gwascentral	rs137852991
openSNP	rs137852991
23andMe	rs137852991
SNPshot	rs137852991
SNPdbe	rs137852991
MSV3d	rs137852991
GWAS Ctlg	rs137852991

Max Magnitude

0

OMIM	605460
Desc
Variant	0006
Related	also

ClinVar
Risk	rs137852991(T;T)
Alt	rs137852991(T;T)
Reference	Rs137852991(C;C)
Significance	Other
Disease	Sitosterolemia
Variation	info
Gene	ABCG8
CLNDBN	Sitosterolemia
Reversed	0
HGVS	NC_000002.11:g.44100948C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000005260.3,