rs397514603

Orientation

minus

Stabilized

minus

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

Make rs397514603(A;G)

Make rs397514603(G;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

85879054

Gene

CHM

is a	snp
is	mentioned by
dbSNP	rs397514603
dbSNP (classic)	rs397514603
ClinGen	rs397514603
ebi	rs397514603
HLI	rs397514603
Exac	rs397514603
Gnomad	rs397514603
Varsome	rs397514603
LitVar	rs397514603
Map	rs397514603
PheGenI	rs397514603
Biobank	rs397514603
1000 genomes	rs397514603
hgdp	rs397514603
ensembl	rs397514603
geneview	rs397514603
scholar	rs397514603
google	rs397514603
pharmgkb	rs397514603
gwascentral	rs397514603
openSNP	rs397514603
23andMe	rs397514603
SNPshot	rs397514603
SNPdbe	rs397514603
MSV3d	rs397514603
GWAS Ctlg	rs397514603

Max Magnitude

0

ClinVar
Risk	rs397514603(G;G)
Alt	rs397514603(G;G)
Reference	Rs397514603(A;A)
Significance	Pathogenic
Disease	Choroideremia
Variation	info
Gene	CHM
CLNDBN	Choroideremia
Reversed	1
HGVS	NC_000023.10:g.85134059T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000033030.3,