rs573951598

Orientation

plus

Stabilized

plus

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

Make rs573951598(C;T)

Make rs573951598(T;T)

Reference

GRCh38 38.1/142

Chromosome

2

Position

218814408

Gene

CYP27A1

is a	snp
is	mentioned by
dbSNP	rs573951598
dbSNP (classic)	rs573951598
ClinGen	rs573951598
ebi	rs573951598
HLI	rs573951598
Exac	rs573951598
Gnomad	rs573951598
Varsome	rs573951598
LitVar	rs573951598
Map	rs573951598
PheGenI	rs573951598
Biobank	rs573951598
1000 genomes	rs573951598
hgdp	rs573951598
ensembl	rs573951598
geneview	rs573951598
scholar	rs573951598
google	rs573951598
pharmgkb	rs573951598
gwascentral	rs573951598
openSNP	rs573951598
23andMe	rs573951598
SNPshot	rs573951598
SNPdbe	rs573951598
MSV3d	rs573951598
GWAS Ctlg	rs573951598

Max Magnitude

0

ClinVar
Risk	rs573951598(T;T)
Alt	rs573951598(T;T)
Reference	Rs573951598(C;C)
Significance	Pathogenic
Disease	Cholestanol storage disease
Variation	info
Gene	CYP27A1
CLNDBN	Cholestanol storage disease
Reversed	0
HGVS	NC_000002.11:g.219679131C>T
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000056078.1,