rs72551322

Orientation

plus

Stabilized

plus

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

Make rs72551322(C;T)

Make rs72551322(T;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

218814716

Gene

CYP27A1

is a	snp
is	mentioned by
dbSNP	rs72551322
dbSNP (classic)	rs72551322
ClinGen	rs72551322
ebi	rs72551322
HLI	rs72551322
Exac	rs72551322
Gnomad	rs72551322
Varsome	rs72551322
LitVar	rs72551322
Map	rs72551322
PheGenI	rs72551322
Biobank	rs72551322
1000 genomes	rs72551322
hgdp	rs72551322
ensembl	rs72551322
geneview	rs72551322
scholar	rs72551322
google	rs72551322
pharmgkb	rs72551322
gwascentral	rs72551322
openSNP	rs72551322
23andMe	rs72551322
SNPshot	rs72551322
SNPdbe	rs72551322
MSV3d	rs72551322
GWAS Ctlg	rs72551322

Max Magnitude

0

OMIM	606530
Desc
Variant	0001
Related	also

OMIM	606530
Desc
Variant	0014
Related	also

ClinVar
Risk	rs72551322(A;A) rs72551322(G;G) rs72551322(T;T)
Alt	rs72551322(A;A) rs72551322(G;G) rs72551322(T;T)
Reference	Rs72551322(C;C)
Significance	Pathogenic
Disease	Cholestanol storage disease
Variation	info
Gene	CYP27A1
CLNDBN	Cholestanol storage disease
Reversed	0
HGVS	NC_000002.11:g.219679439C>G; NC_000002.11:g.219679439C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004488.2, RCV000004476.2,