rs397515354

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;G)	3	Carrier of a cholestanol storage disease mutation
(G;G)	0	common in clinvar

Make rs397515354(A;A)

Reference

GRCh38 38.1/141

Chromosome

2

Position

218812750

Gene

CYP27A1

is a	snp
is	mentioned by
dbSNP	rs397515354
dbSNP (classic)	rs397515354
ClinGen	rs397515354
ebi	rs397515354
HLI	rs397515354
Exac	rs397515354
Gnomad	rs397515354
Varsome	rs397515354
LitVar	rs397515354
Map	rs397515354
PheGenI	rs397515354
Biobank	rs397515354
1000 genomes	rs397515354
hgdp	rs397515354
ensembl	rs397515354
geneview	rs397515354
scholar	rs397515354
google	rs397515354
pharmgkb	rs397515354
gwascentral	rs397515354
openSNP	rs397515354
23andMe	rs397515354
SNPshot	rs397515354
SNPdbe	rs397515354
MSV3d	rs397515354
GWAS Ctlg	rs397515354

Max Magnitude

3

aka c.844+1G>A

ClinVar
Risk	rs397515354(A;A) rs397515354(C;C)
Alt	rs397515354(A;A) rs397515354(C;C)
Reference	Rs397515354(G;G)
Significance	Pathogenic
Disease	Cholestanol storage disease
Variation	info
Gene	CYP27A1
CLNDBN	Cholestanol storage disease
Reversed	0
HGVS	NC_000002.11:g.219677473G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000004479.2,