rs587778797

Orientation

plus

Stabilized

plus

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

Make rs587778797(A;A)

Make rs587778797(A;G)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

218809768

Gene

CYP27A1

is a	snp
is	mentioned by
dbSNP	rs587778797
dbSNP (classic)	rs587778797
ClinGen	rs587778797
ebi	rs587778797
HLI	rs587778797
Exac	rs587778797
Gnomad	rs587778797
Varsome	rs587778797
LitVar	rs587778797
Map	rs587778797
PheGenI	rs587778797
Biobank	rs587778797
1000 genomes	rs587778797
hgdp	rs587778797
ensembl	rs587778797
geneview	rs587778797
scholar	rs587778797
google	rs587778797
pharmgkb	rs587778797
gwascentral	rs587778797
openSNP	rs587778797
23andMe	rs587778797
SNPshot	rs587778797
SNPdbe	rs587778797
MSV3d	rs587778797
GWAS Ctlg	rs587778797

Max Magnitude

0

ClinVar
Risk	rs587778797(A;A)
Alt	rs587778797(A;A)
Reference	Rs587778797(G;G)
Significance	Pathogenic
Disease	Cholestanol storage disease
Variation	info
Gene	CYP27A1
CLNDBN	Cholestanol storage disease
Reversed	0
HGVS	NC_000002.11:g.219674491G>A
CLNSRC
CLNACC	RCV000056116.1,