rs72551314

Orientation

plus

Stabilized

plus

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

Make rs72551314(C;T)

Make rs72551314(T;T)

Reference

GRCh38 38.1/142

Chromosome

2

Position

218812250

Gene

CYP27A1

is a	snp
is	mentioned by
dbSNP	rs72551314
dbSNP (classic)	rs72551314
ClinGen	rs72551314
ebi	rs72551314
HLI	rs72551314
Exac	rs72551314
Gnomad	rs72551314
Varsome	rs72551314
LitVar	rs72551314
Map	rs72551314
PheGenI	rs72551314
Biobank	rs72551314
1000 genomes	rs72551314
hgdp	rs72551314
ensembl	rs72551314
geneview	rs72551314
scholar	rs72551314
google	rs72551314
pharmgkb	rs72551314
gwascentral	rs72551314
openSNP	rs72551314
23andMe	rs72551314
SNPshot	rs72551314
SNPdbe	rs72551314
MSV3d	rs72551314
GWAS Ctlg	rs72551314

Max Magnitude

0

ClinVar
Risk	rs72551314(T;T)
Alt	rs72551314(T;T)
Reference	Rs72551314(C;C)
Significance	Pathogenic
Disease	Cholestanol storage disease not provided
Variation	info
Gene	CYP27A1
CLNDBN	Cholestanol storage disease not provided
Reversed	0
HGVS	NC_000002.11:g.219676973C>T
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000056118.1, RCV000444884.1,