rs132630265

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(G;G)	0	common in clinvar
(G;T)	4	Choroideremia
(T;T)	4	risk of Choroideremia

Reference

GRCh38 38.1/141

Chromosome

X

Position

85894227

Gene

CHM

is a	snp
is	mentioned by
dbSNP	rs132630265
dbSNP (classic)	rs132630265
ClinGen	rs132630265
ebi	rs132630265
HLI	rs132630265
Exac	rs132630265
Gnomad	rs132630265
Varsome	rs132630265
LitVar	rs132630265
Map	rs132630265
PheGenI	rs132630265
Biobank	rs132630265
1000 genomes	rs132630265
hgdp	rs132630265
ensembl	rs132630265
geneview	rs132630265
scholar	rs132630265
google	rs132630265
pharmgkb	rs132630265
gwascentral	rs132630265
openSNP	rs132630265
23andMe	rs132630265
SNPshot	rs132630265
SNPdbe	rs132630265
MSV3d	rs132630265
GWAS Ctlg	rs132630265

Max Magnitude

4

OMIM	300390
Desc
Variant	0004
Related	also

ClinVar
Risk	Rs132630265(T;T)
Alt	Rs132630265(T;T)
Reference	Rs132630265(G;G)
Significance	Pathogenic
Disease	Choroideremia
Variation	info
Gene	CHM
CLNDBN	Choroideremia
Reversed	1
HGVS	NC_000023.10:g.85149232C>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000011900.6,