rs386833676

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/141

Chromosome

X

Position

85878962

Gene

CHM

is a	snp
is	mentioned by
dbSNP	rs386833676
dbSNP (classic)	rs386833676
ClinGen	rs386833676
ebi	rs386833676
HLI	rs386833676
Exac	rs386833676
Gnomad	rs386833676
Varsome	rs386833676
LitVar	rs386833676
Map	rs386833676
PheGenI	rs386833676
Biobank	rs386833676
1000 genomes	rs386833676
hgdp	rs386833676
ensembl	rs386833676
geneview	rs386833676
scholar	rs386833676
google	rs386833676
pharmgkb	rs386833676
gwascentral	rs386833676
openSNP	rs386833676
23andMe	rs386833676
SNPshot	rs386833676
SNPdbe	rs386833676
MSV3d	rs386833676
GWAS Ctlg	rs386833676

Max Magnitude

4

ClinVar
Risk	Rs386833676(T;T)
Alt	Rs386833676(T;T)
Reference	Rs386833676(-;-)
Significance	Pathogenic
Disease	Choroideremia
Variation	info
Gene	CHM
CLNDBN	Choroideremia
Reversed	1
HGVS	NC_000023.10:g.85133968dupA
CLNSRC	ClinVar
CLNACC	RCV000049636.2,

[PMID 1302003] Aberrant splicing of the CHM gene is a significant cause of choroideremia.