rs104894672

Orientation

plus

Stabilized

plus

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

Make rs104894672(C;T)

Make rs104894672(T;T)

Reference

GRCh38 38.1/141

Chromosome

19

Position

47836263

Gene

CRX

is a	snp
is	mentioned by
dbSNP	rs104894672
dbSNP (classic)	rs104894672
ClinGen	rs104894672
ebi	rs104894672
HLI	rs104894672
Exac	rs104894672
Gnomad	rs104894672
Varsome	rs104894672
LitVar	rs104894672
Map	rs104894672
PheGenI	rs104894672
Biobank	rs104894672
1000 genomes	rs104894672
hgdp	rs104894672
ensembl	rs104894672
geneview	rs104894672
scholar	rs104894672
google	rs104894672
pharmgkb	rs104894672
gwascentral	rs104894672
openSNP	rs104894672
23andMe	rs104894672
SNPshot	rs104894672
SNPdbe	rs104894672
MSV3d	rs104894672
GWAS Ctlg	rs104894672

Max Magnitude

0

OMIM	602225
Desc
Variant	0005
Related	also

ClinVar
Risk	rs104894672(T;T)
Alt	rs104894672(T;T)
Reference	Rs104894672(C;C)
Significance	Pathogenic
Disease	Cone-rod dystrophy 2 not provided
Variation	info
Gene	CRX
CLNDBN	Cone-rod dystrophy 2 not provided
Reversed	0
HGVS	NC_000019.9:g.48339520C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000007843.4, RCV000085989.1,