rs132630267

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;A)	4	risk of Choroideremia
(A;C)	4	Choroideremia
(C;C)	0	common in clinvar

Reference

GRCh38 38.1/141

Chromosome

X

Position

85894201

Gene

CHM

is a	snp
is	mentioned by
dbSNP	rs132630267
dbSNP (classic)	rs132630267
ClinGen	rs132630267
ebi	rs132630267
HLI	rs132630267
Exac	rs132630267
Gnomad	rs132630267
Varsome	rs132630267
LitVar	rs132630267
Map	rs132630267
PheGenI	rs132630267
Biobank	rs132630267
1000 genomes	rs132630267
hgdp	rs132630267
ensembl	rs132630267
geneview	rs132630267
scholar	rs132630267
google	rs132630267
pharmgkb	rs132630267
gwascentral	rs132630267
openSNP	rs132630267
23andMe	rs132630267
SNPshot	rs132630267
SNPdbe	rs132630267
MSV3d	rs132630267
GWAS Ctlg	rs132630267

Max Magnitude

4

aka c.1497C>A (p.Cys499Ter)

OMIM	300390
Desc
Variant	0009
Related	also

ClinVar
Risk	Rs132630267(A;A)
Alt	Rs132630267(A;A)
Reference	Rs132630267(C;C)
Significance	Pathogenic
Disease	Choroideremia
Variation	info
Gene	CHM
CLNDBN	Choroideremia
Reversed	1
HGVS	NC_000023.10:g.85149206G>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000011903.21,