rs137852988

Orientation

plus

Stabilized

plus

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

Make rs137852988(A;A)

Make rs137852988(A;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

43875377

Gene

ABCG8

is a	snp
is	mentioned by
dbSNP	rs137852988
dbSNP (classic)	rs137852988
ClinGen	rs137852988
ebi	rs137852988
HLI	rs137852988
Exac	rs137852988
Gnomad	rs137852988
Varsome	rs137852988
LitVar	rs137852988
Map	rs137852988
PheGenI	rs137852988
Biobank	rs137852988
1000 genomes	rs137852988
hgdp	rs137852988
ensembl	rs137852988
geneview	rs137852988
scholar	rs137852988
google	rs137852988
pharmgkb	rs137852988
gwascentral	rs137852988
openSNP	rs137852988
23andMe	rs137852988
SNPshot	rs137852988
SNPdbe	rs137852988
MSV3d	rs137852988
GWAS Ctlg	rs137852988

Max Magnitude

0

OMIM	605460
Desc
Variant	0002
Related	also

ClinVar
Risk	rs137852988(A;A)
Alt	rs137852988(A;A)
Reference	Rs137852988(G;G)
Significance	Other
Disease	Sitosterolemia
Variation	info
Gene	ABCG8
CLNDBN	Sitosterolemia
Reversed	0
HGVS	NC_000002.11:g.44102516G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000005256.4,