rs201114717

Orientation

plus

Stabilized

plus

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

Make rs201114717(C;T)

Make rs201114717(T;T)

Reference

GRCh38 38.1/142

Chromosome

2

Position

218809700

Gene

CYP27A1

is a	snp
is	mentioned by
dbSNP	rs201114717
dbSNP (classic)	rs201114717
ClinGen	rs201114717
ebi	rs201114717
HLI	rs201114717
Exac	rs201114717
Gnomad	rs201114717
Varsome	rs201114717
LitVar	rs201114717
Map	rs201114717
PheGenI	rs201114717
Biobank	rs201114717
1000 genomes	rs201114717
hgdp	rs201114717
ensembl	rs201114717
geneview	rs201114717
scholar	rs201114717
google	rs201114717
pharmgkb	rs201114717
gwascentral	rs201114717
openSNP	rs201114717
23andMe	rs201114717
SNPshot	rs201114717
SNPdbe	rs201114717
MSV3d	rs201114717
GWAS Ctlg	rs201114717

Max Magnitude

0

ClinVar
Risk	rs201114717(G;G) rs201114717(T;T)
Alt	rs201114717(G;G) rs201114717(T;T)
Reference	Rs201114717(C;C)
Significance	Pathogenic
Disease	Cholestanol storage disease
Variation	info
Gene	CYP27A1
CLNDBN	Cholestanol storage disease
Reversed	0
HGVS	NC_000002.11:g.219674423C>T
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000056110.1,