rs200553205

Orientation

plus

Stabilized

plus

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

Make rs200553205(A;A)

Make rs200553205(A;G)

Reference

GRCh38 38.1/142

Chromosome

2

Position

218813096

Gene

CYP27A1

is a	snp
is	mentioned by
dbSNP	rs200553205
dbSNP (classic)	rs200553205
ClinGen	rs200553205
ebi	rs200553205
HLI	rs200553205
Exac	rs200553205
Gnomad	rs200553205
Varsome	rs200553205
LitVar	rs200553205
Map	rs200553205
PheGenI	rs200553205
Biobank	rs200553205
1000 genomes	rs200553205
hgdp	rs200553205
ensembl	rs200553205
geneview	rs200553205
scholar	rs200553205
google	rs200553205
pharmgkb	rs200553205
gwascentral	rs200553205
openSNP	rs200553205
23andMe	rs200553205
SNPshot	rs200553205
SNPdbe	rs200553205
MSV3d	rs200553205
GWAS Ctlg	rs200553205

Max Magnitude

0

ClinVar
Risk	rs200553205(A;A) rs200553205(C;C)
Alt	rs200553205(A;A) rs200553205(C;C)
Reference	Rs200553205(G;G)
Significance	Pathogenic
Disease	not specified Cholestanol storage disease
Variation	info
Gene	CYP27A1
CLNDBN	not specified Cholestanol storage disease
Reversed	0
HGVS	NC_000002.11:g.219677819G>A; NC_000002.11:g.219677819G>C
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000397921.1, RCV000056065.1,