rs587778781

Orientation

plus

Stabilized

plus

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

Make rs587778781(C;G)

Make rs587778781(G;G)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

218814404

Gene

CYP27A1

is a	snp
is	mentioned by
dbSNP	rs587778781
dbSNP (classic)	rs587778781
ClinGen	rs587778781
ebi	rs587778781
HLI	rs587778781
Exac	rs587778781
Gnomad	rs587778781
Varsome	rs587778781
LitVar	rs587778781
Map	rs587778781
PheGenI	rs587778781
Biobank	rs587778781
1000 genomes	rs587778781
hgdp	rs587778781
ensembl	rs587778781
geneview	rs587778781
scholar	rs587778781
google	rs587778781
pharmgkb	rs587778781
gwascentral	rs587778781
openSNP	rs587778781
23andMe	rs587778781
SNPshot	rs587778781
SNPdbe	rs587778781
MSV3d	rs587778781
GWAS Ctlg	rs587778781

Max Magnitude

0

ClinVar
Risk	rs587778781(G;G)
Alt	rs587778781(G;G)
Reference	Rs587778781(C;C)
Significance	Pathogenic
Disease	Cholestanol storage disease
Variation	info
Gene	CYP27A1
CLNDBN	Cholestanol storage disease
Reversed	0
HGVS	NC_000002.11:g.219679127C>G
CLNSRC
CLNACC	RCV000056077.1,