rs137852989

Orientation

plus

Stabilized

plus

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

Make rs137852989(C;G)

Make rs137852989(G;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

43877865

Gene

ABCG8

is a	snp
is	mentioned by
dbSNP	rs137852989
dbSNP (classic)	rs137852989
ClinGen	rs137852989
ebi	rs137852989
HLI	rs137852989
Exac	rs137852989
Gnomad	rs137852989
Varsome	rs137852989
LitVar	rs137852989
Map	rs137852989
PheGenI	rs137852989
Biobank	rs137852989
1000 genomes	rs137852989
hgdp	rs137852989
ensembl	rs137852989
geneview	rs137852989
scholar	rs137852989
google	rs137852989
pharmgkb	rs137852989
gwascentral	rs137852989
openSNP	rs137852989
23andMe	rs137852989
SNPshot	rs137852989
SNPdbe	rs137852989
MSV3d	rs137852989
GWAS Ctlg	rs137852989

Max Magnitude

0

OMIM	605460
Desc
Variant	0003
Related	also

ClinVar
Risk	rs137852989(G;G)
Alt	rs137852989(G;G)
Reference	Rs137852989(C;C)
Significance	Pathogenic
Disease	Sitosterolemia
Variation	info
Gene	ABCG8
CLNDBN	Sitosterolemia
Reversed	0
HGVS	NC_000002.11:g.44105004C>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000005257.2,