rs387906323

Orientation

plus

Stabilized

plus

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

Make rs387906323(-;-)

Make rs387906323(-;C)

Reference

GRCh38 38.1/141

Chromosome

2

Position

43851808

Gene

ABCG8

is a	snp
is	mentioned by
dbSNP	rs387906323
dbSNP (classic)	rs387906323
ClinGen	rs387906323
ebi	rs387906323
HLI	rs387906323
Exac	rs387906323
Gnomad	rs387906323
Varsome	rs387906323
LitVar	rs387906323
Map	rs387906323
PheGenI	rs387906323
Biobank	rs387906323
1000 genomes	rs387906323
hgdp	rs387906323
ensembl	rs387906323
geneview	rs387906323
scholar	rs387906323
google	rs387906323
pharmgkb	rs387906323
gwascentral	rs387906323
openSNP	rs387906323
23andMe	rs387906323
SNPshot	rs387906323
SNPdbe	rs387906323
MSV3d	rs387906323
GWAS Ctlg	rs387906323

Max Magnitude

0

ClinVar
Risk	rs387906323(-;-)
Alt	rs387906323(-;-)
Reference	Rs387906323(C;C)
Significance	Pathogenic
Disease	Sitosterolemia
Variation	info
Gene	ABCG8
CLNDBN	Sitosterolemia
Reversed	0
HGVS	NC_000002.11:g.44078947delC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000005259.3,