rs104894673

Orientation

plus

Stabilized

plus

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

Make rs104894673(C;T)

Make rs104894673(T;T)

Reference

GRCh38 38.1/141

Chromosome

19

Position

47839335

Gene

CRX

is a	snp
is	mentioned by
dbSNP	rs104894673
dbSNP (classic)	rs104894673
ClinGen	rs104894673
ebi	rs104894673
HLI	rs104894673
Exac	rs104894673
Gnomad	rs104894673
Varsome	rs104894673
LitVar	rs104894673
Map	rs104894673
PheGenI	rs104894673
Biobank	rs104894673
1000 genomes	rs104894673
hgdp	rs104894673
ensembl	rs104894673
geneview	rs104894673
scholar	rs104894673
google	rs104894673
pharmgkb	rs104894673
gwascentral	rs104894673
openSNP	rs104894673
23andMe	rs104894673
SNPshot	rs104894673
SNPdbe	rs104894673
MSV3d	rs104894673
GWAS Ctlg	rs104894673

Max Magnitude

0

OMIM	602225
Desc
Variant	0007
Related	also

ClinVar
Risk	rs104894673(T;T)
Alt	rs104894673(T;T)
Reference	Rs104894673(C;C)
Significance	Pathogenic
Disease	Leber congenital amaurosis 7 not provided
Variation	info
Gene	CRX
CLNDBN	Leber congenital amaurosis 7 not provided
Reversed	0
HGVS	NC_000019.9:g.48342592C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000007847.3, RCV000086364.1,