rs869312175

Orientation

plus

Stabilized

plus

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

Make rs869312175(-;-)

Make rs869312175(-;C)

Reference

GRCh38.p2 38.2/147

Chromosome

19

Position

47839715

Gene

CRX

is a	snp
is	mentioned by
dbSNP	rs869312175
dbSNP (classic)	rs869312175
ClinGen	rs869312175
ebi	rs869312175
HLI	rs869312175
Exac	rs869312175
Gnomad	rs869312175
Varsome	rs869312175
LitVar	rs869312175
Map	rs869312175
PheGenI	rs869312175
Biobank	rs869312175
1000 genomes	rs869312175
hgdp	rs869312175
ensembl	rs869312175
geneview	rs869312175
scholar	rs869312175
google	rs869312175
pharmgkb	rs869312175
gwascentral	rs869312175
openSNP	rs869312175
23andMe	rs869312175
SNPshot	rs869312175
SNPdbe	rs869312175
MSV3d	rs869312175
GWAS Ctlg	rs869312175

Max Magnitude

0

ClinVar
Risk	rs869312175(-;-)
Alt	rs869312175(-;-)
Reference	Rs869312175(C;C)
Significance	Probable-Pathogenic
Disease	Leber congenital amaurosis
Variation	info
Gene	CRX
CLNDBN	Leber congenital amaurosis
Reversed	0
HGVS	NC_000019.9:g.48342972delC
CLNSRC
CLNACC	RCV000210309.1,