rs587778804

Orientation

plus

Stabilized

plus

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

Make rs587778804(G;T)

Make rs587778804(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

218812551

Gene

CYP27A1

is a	snp
is	mentioned by
dbSNP	rs587778804
dbSNP (classic)	rs587778804
ClinGen	rs587778804
ebi	rs587778804
HLI	rs587778804
Exac	rs587778804
Gnomad	rs587778804
Varsome	rs587778804
LitVar	rs587778804
Map	rs587778804
PheGenI	rs587778804
Biobank	rs587778804
1000 genomes	rs587778804
hgdp	rs587778804
ensembl	rs587778804
geneview	rs587778804
scholar	rs587778804
google	rs587778804
pharmgkb	rs587778804
gwascentral	rs587778804
openSNP	rs587778804
23andMe	rs587778804
SNPshot	rs587778804
SNPdbe	rs587778804
MSV3d	rs587778804
GWAS Ctlg	rs587778804

Max Magnitude

0

ClinVar
Risk	rs587778804(T;T)
Alt	rs587778804(T;T)
Reference	Rs587778804(G;G)
Significance	Pathogenic
Disease	Cholestanol storage disease
Variation	info
Gene	CYP27A1
CLNDBN	Cholestanol storage disease
Reversed	0
HGVS	NC_000002.11:g.219677274G>T
CLNSRC
CLNACC	RCV000056131.1,