rs387906912

Orientation

minus

Stabilized

minus

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

Make rs387906912(C;T)

Make rs387906912(T;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

43838634

Gene	ABCG5, ABCG8

is a	snp
is	mentioned by
dbSNP	rs387906912
dbSNP (classic)	rs387906912
ClinGen	rs387906912
ebi	rs387906912
HLI	rs387906912
Exac	rs387906912
Gnomad	rs387906912
Varsome	rs387906912
LitVar	rs387906912
Map	rs387906912
PheGenI	rs387906912
Biobank	rs387906912
1000 genomes	rs387906912
hgdp	rs387906912
ensembl	rs387906912
geneview	rs387906912
scholar	rs387906912
google	rs387906912
pharmgkb	rs387906912
gwascentral	rs387906912
openSNP	rs387906912
23andMe	rs387906912
SNPshot	rs387906912
SNPdbe	rs387906912
MSV3d	rs387906912
GWAS Ctlg	rs387906912

Max Magnitude

0

ClinVar
Risk	rs387906912(T;T)
Alt	rs387906912(T;T)
Reference	Rs387906912(C;C)
Significance	Pathogenic
Disease	Sitosterolemia
Variation	info
Gene	ABCG5 ABCG8
CLNDBN	Sitosterolemia
Reversed	1
HGVS	NC_000002.11:g.44065773G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000023441.3,