rs132630263

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(CC;CC)	0	common in clinvar
(GA;GA)	4	risk of Choroideremia

Make rs132630263(CC;GA)

Reference

GRCh38 38.1/141

Chromosome

X

Position

85900700

Gene

CHM

is a	snp
is	mentioned by
dbSNP	rs132630263
dbSNP (classic)	rs132630263
ClinGen	rs132630263
ebi	rs132630263
HLI	rs132630263
Exac	rs132630263
Gnomad	rs132630263
Varsome	rs132630263
LitVar	rs132630263
Map	rs132630263
PheGenI	rs132630263
Biobank	rs132630263
1000 genomes	rs132630263
hgdp	rs132630263
ensembl	rs132630263
geneview	rs132630263
scholar	rs132630263
google	rs132630263
pharmgkb	rs132630263
gwascentral	rs132630263
openSNP	rs132630263
23andMe	rs132630263
SNPshot	rs132630263
SNPdbe	rs132630263
MSV3d	rs132630263
GWAS Ctlg	rs132630263

Max Magnitude

4

OMIM	300390
Desc
Variant	0002
Related	also

ClinVar
Risk	Rs132630263(GA;GA)
Alt	Rs132630263(GA;GA)
Reference	Rs132630263(CC;CC)
Significance	Pathogenic
Disease	Choroideremia
Variation	info
Gene	CHM
CLNDBN	Choroideremia
Reversed	1
HGVS	NC_000023.10:g.85155705_85155706delGGinsTC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000011898.7,