rs121908102

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	3	Carrier of a cholestanol storage disease mutation

Make rs121908102(T;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

218813095

Gene

CYP27A1

is a	snp
is	mentioned by
dbSNP	rs121908102
dbSNP (classic)	rs121908102
ClinGen	rs121908102
ebi	rs121908102
HLI	rs121908102
Exac	rs121908102
Gnomad	rs121908102
Varsome	rs121908102
LitVar	rs121908102
Map	rs121908102
PheGenI	rs121908102
Biobank	rs121908102
1000 genomes	rs121908102
hgdp	rs121908102
ensembl	rs121908102
geneview	rs121908102
scholar	rs121908102
google	rs121908102
pharmgkb	rs121908102
gwascentral	rs121908102
openSNP	rs121908102
23andMe	rs121908102
SNPshot	rs121908102
SNPdbe	rs121908102
MSV3d	rs121908102
GWAS Ctlg	rs121908102

Max Magnitude

3

aka c.1016C>T (p.Thr339Met or T339M)

OMIM	606530
Desc
Variant	0013
Related	also

ClinVar
Risk	rs121908102(T;T)
Alt	rs121908102(T;T)
Reference	Rs121908102(C;C)
Significance	Other
Disease	Cholestanol storage disease
Variation	info
Gene	CYP27A1
CLNDBN	Cholestanol storage disease
Reversed	0
HGVS	NC_000002.11:g.219677818C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000004487.3,