rs137852992

Orientation

plus

Stabilized

plus

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

Make rs137852992(G;G)

Make rs137852992(G;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

43877591

Gene

ABCG8

is a	snp
is	mentioned by
dbSNP	rs137852992
dbSNP (classic)	rs137852992
ClinGen	rs137852992
ebi	rs137852992
HLI	rs137852992
Exac	rs137852992
Gnomad	rs137852992
Varsome	rs137852992
LitVar	rs137852992
Map	rs137852992
PheGenI	rs137852992
Biobank	rs137852992
1000 genomes	rs137852992
hgdp	rs137852992
ensembl	rs137852992
geneview	rs137852992
scholar	rs137852992
google	rs137852992
pharmgkb	rs137852992
gwascentral	rs137852992
openSNP	rs137852992
23andMe	rs137852992
SNPshot	rs137852992
SNPdbe	rs137852992
MSV3d	rs137852992
GWAS Ctlg	rs137852992

Max Magnitude

0

OMIM	605460
Desc
Variant	0007
Related	also

ClinVar
Risk	rs137852992(G;G)
Alt	rs137852992(G;G)
Reference	Rs137852992(T;T)
Significance	Pathogenic
Disease	Sitosterolemia
Variation	info
Gene	ABCG8
CLNDBN	Sitosterolemia
Reversed	0
HGVS	NC_000002.11:g.44104730T>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000005261.2,