rs132630264

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

85894214

Gene

CHM

is a	snp
is	mentioned by
dbSNP	rs132630264
dbSNP (classic)	rs132630264
ClinGen	rs132630264
ebi	rs132630264
HLI	rs132630264
Exac	rs132630264
Gnomad	rs132630264
Varsome	rs132630264
LitVar	rs132630264
Map	rs132630264
PheGenI	rs132630264
Biobank	rs132630264
1000 genomes	rs132630264
hgdp	rs132630264
ensembl	rs132630264
geneview	rs132630264
scholar	rs132630264
google	rs132630264
pharmgkb	rs132630264
gwascentral	rs132630264
openSNP	rs132630264
23andMe	rs132630264
SNPshot	rs132630264
SNPdbe	rs132630264
MSV3d	rs132630264
GWAS Ctlg	rs132630264

Max Magnitude

4

OMIM	300390
Desc
Variant	0003
Related	also

ClinVar
Risk	Rs132630264(A;A)
Alt	Rs132630264(A;A)
Reference	Rs132630264(C;C)
Significance	Pathogenic
Disease	Choroideremia
Variation	info
Gene	CHM
CLNDBN	Choroideremia
Reversed	1
HGVS	NC_000023.10:g.85149219G>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000011899.7,