rs587778818

Orientation

plus

Stabilized

plus

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

Make rs587778818(A;A)

Make rs587778818(A;G)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

218809731

Gene

CYP27A1

is a	snp
is	mentioned by
dbSNP	rs587778818
dbSNP (classic)	rs587778818
ClinGen	rs587778818
ebi	rs587778818
HLI	rs587778818
Exac	rs587778818
Gnomad	rs587778818
Varsome	rs587778818
LitVar	rs587778818
Map	rs587778818
PheGenI	rs587778818
Biobank	rs587778818
1000 genomes	rs587778818
hgdp	rs587778818
ensembl	rs587778818
geneview	rs587778818
scholar	rs587778818
google	rs587778818
pharmgkb	rs587778818
gwascentral	rs587778818
openSNP	rs587778818
23andMe	rs587778818
SNPshot	rs587778818
SNPdbe	rs587778818
MSV3d	rs587778818
GWAS Ctlg	rs587778818

Max Magnitude

0

ClinVar
Risk	rs587778818(A;A)
Alt	rs587778818(A;A)
Reference	Rs587778818(G;G)
Significance	Pathogenic
Disease	Cholestanol storage disease
Variation	info
Gene	CYP27A1
CLNDBN	Cholestanol storage disease
Reversed	0
HGVS	NC_000002.11:g.219674454G>A
CLNSRC
CLNACC	RCV000056176.1,