rs121908097

Orientation

plus

Stabilized

plus

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

Make rs121908097(A;A)

Make rs121908097(A;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

218814702

Gene

CYP27A1

is a	snp
is	mentioned by
dbSNP	rs121908097
dbSNP (classic)	rs121908097
ClinGen	rs121908097
ebi	rs121908097
HLI	rs121908097
Exac	rs121908097
Gnomad	rs121908097
Varsome	rs121908097
LitVar	rs121908097
Map	rs121908097
PheGenI	rs121908097
Biobank	rs121908097
1000 genomes	rs121908097
hgdp	rs121908097
ensembl	rs121908097
geneview	rs121908097
scholar	rs121908097
google	rs121908097
pharmgkb	rs121908097
gwascentral	rs121908097
openSNP	rs121908097
23andMe	rs121908097
SNPshot	rs121908097
SNPdbe	rs121908097
MSV3d	rs121908097
GWAS Ctlg	rs121908097

Max Magnitude

0

OMIM	606530
Desc
Variant	0005
Related	also

ClinVar
Risk	rs121908097(A;A)
Alt	rs121908097(A;A)
Reference	Rs121908097(G;G)
Significance	Pathogenic
Disease	Cholestanol storage disease
Variation	info
Gene	CYP27A1
CLNDBN	Cholestanol storage disease
Reversed	0
HGVS	NC_000002.11:g.219679425G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004480.2,