rs527236048

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs527236048(C;T)

Make rs527236048(T;T)

Reference

GRCh38 38.1/142

Chromosome

X

Position

85958872

Gene

CHM

is a	snp
is	mentioned by
dbSNP	rs527236048
dbSNP (classic)	rs527236048
ClinGen	rs527236048
ebi	rs527236048
HLI	rs527236048
Exac	rs527236048
Gnomad	rs527236048
Varsome	rs527236048
LitVar	rs527236048
Map	rs527236048
PheGenI	rs527236048
Biobank	rs527236048
1000 genomes	rs527236048
hgdp	rs527236048
ensembl	rs527236048
geneview	rs527236048
scholar	rs527236048
google	rs527236048
pharmgkb	rs527236048
gwascentral	rs527236048
openSNP	rs527236048
23andMe	rs527236048
SNPshot	rs527236048
SNPdbe	rs527236048
MSV3d	rs527236048
GWAS Ctlg	rs527236048

Max Magnitude

0

ClinVar
Risk	rs527236048(T;T)
Alt	rs527236048(T;T)
Reference	Rs527236048(C;C)
Significance	Pathogenic
Disease	Choroideremia
Variation	info
Gene	CHM
CLNDBN	Choroideremia
Reversed	1
HGVS	NC_000023.10:g.85213877G>A
CLNSRC	ClinVar
CLNACC	RCV000132595.1,