rs137854891

Orientation

plus

Stabilized

plus

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

Make rs137854891(C;G)

Make rs137854891(G;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

43846309

Gene	ABCG8, LOC102725159

is a	snp
is	mentioned by
dbSNP	rs137854891
dbSNP (classic)	rs137854891
ClinGen	rs137854891
ebi	rs137854891
HLI	rs137854891
Exac	rs137854891
Gnomad	rs137854891
Varsome	rs137854891
LitVar	rs137854891
Map	rs137854891
PheGenI	rs137854891
Biobank	rs137854891
1000 genomes	rs137854891
hgdp	rs137854891
ensembl	rs137854891
geneview	rs137854891
scholar	rs137854891
google	rs137854891
pharmgkb	rs137854891
gwascentral	rs137854891
openSNP	rs137854891
23andMe	rs137854891
SNPshot	rs137854891
SNPdbe	rs137854891
MSV3d	rs137854891
GWAS Ctlg	rs137854891

Max Magnitude

0

ClinVar
Risk	rs137854891(G;G)
Alt	rs137854891(G;G)
Reference	Rs137854891(C;C)
Significance	Pathogenic
Disease	Sitosterolemia
Variation	info
Gene	ABCG8
CLNDBN	Sitosterolemia
Reversed	0
HGVS	NC_000002.11:g.44073448C>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000032718.4,

[PMID 15375183] Phenotypic heterogeneity of sitosterolemia.