rs200883871

Orientation

plus

Stabilized

plus

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

Make rs200883871(C;C)

Make rs200883871(C;G)

Reference

GRCh38 38.1/142

Chromosome

2

Position

218814696

Gene

CYP27A1

is a	snp
is	mentioned by
dbSNP	rs200883871
dbSNP (classic)	rs200883871
ClinGen	rs200883871
ebi	rs200883871
HLI	rs200883871
Exac	rs200883871
Gnomad	rs200883871
Varsome	rs200883871
LitVar	rs200883871
Map	rs200883871
PheGenI	rs200883871
Biobank	rs200883871
1000 genomes	rs200883871
hgdp	rs200883871
ensembl	rs200883871
geneview	rs200883871
scholar	rs200883871
google	rs200883871
pharmgkb	rs200883871
gwascentral	rs200883871
openSNP	rs200883871
23andMe	rs200883871
SNPshot	rs200883871
SNPdbe	rs200883871
MSV3d	rs200883871
GWAS Ctlg	rs200883871

Max Magnitude

0

ClinVar
Risk	rs200883871(C;C)
Alt	rs200883871(C;C)
Reference	Rs200883871(G;G)
Significance	Pathogenic
Disease	Cholestanol storage disease
Variation	info
Gene	CYP27A1
CLNDBN	Cholestanol storage disease
Reversed	0
HGVS	NC_000002.11:g.219679419G>C
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000056091.1,