rs132630266

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/141

Chromosome

X

Position

85957918

Gene

CHM

is a	snp
is	mentioned by
dbSNP	rs132630266
dbSNP (classic)	rs132630266
ClinGen	rs132630266
ebi	rs132630266
HLI	rs132630266
Exac	rs132630266
Gnomad	rs132630266
Varsome	rs132630266
LitVar	rs132630266
Map	rs132630266
PheGenI	rs132630266
Biobank	rs132630266
1000 genomes	rs132630266
hgdp	rs132630266
ensembl	rs132630266
geneview	rs132630266
scholar	rs132630266
google	rs132630266
pharmgkb	rs132630266
gwascentral	rs132630266
openSNP	rs132630266
23andMe	rs132630266
SNPshot	rs132630266
SNPdbe	rs132630266
MSV3d	rs132630266
GWAS Ctlg	rs132630266

Max Magnitude

4

OMIM	300390
Desc
Variant	0008
Related	also

ClinVar
Risk	Rs132630266(T;T)
Alt	Rs132630266(T;T)
Reference	Rs132630266(C;C)
Significance	Pathogenic
Disease	Choroideremia not provided
Variation	info
Gene	CHM
CLNDBN	Choroideremia not provided
Reversed	1
HGVS	NC_000023.10:g.85212923G>A
CLNSRC	HGMD OMIM Allelic Variant
CLNACC	RCV000011904.6, RCV000078687.4,