rs72551312

Orientation

plus

Stabilized

plus

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

Make rs72551312(C;T)

Make rs72551312(T;T)

Reference

GRCh38 38.1/142

Chromosome

2

Position

218809730

Gene

CYP27A1

is a	snp
is	mentioned by
dbSNP	rs72551312
dbSNP (classic)	rs72551312
ClinGen	rs72551312
ebi	rs72551312
HLI	rs72551312
Exac	rs72551312
Gnomad	rs72551312
Varsome	rs72551312
LitVar	rs72551312
Map	rs72551312
PheGenI	rs72551312
Biobank	rs72551312
1000 genomes	rs72551312
hgdp	rs72551312
ensembl	rs72551312
geneview	rs72551312
scholar	rs72551312
google	rs72551312
pharmgkb	rs72551312
gwascentral	rs72551312
openSNP	rs72551312
23andMe	rs72551312
SNPshot	rs72551312
SNPdbe	rs72551312
MSV3d	rs72551312
GWAS Ctlg	rs72551312

Max Magnitude

0

ClinVar
Risk	rs72551312(A;A) rs72551312(T;T)
Alt	rs72551312(A;A) rs72551312(T;T)
Reference	Rs72551312(C;C)
Significance	Pathogenic
Disease	Cholestanol storage disease
Variation	info
Gene	CYP27A1
CLNDBN	Cholestanol storage disease
Reversed	0
HGVS	NC_000002.11:g.219674453C>T
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000056112.1,