rs104894492

Orientation

plus

Stabilized

plus

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

Make rs104894492(C;T)

Make rs104894492(T;T)

Reference

GRCh38 38.1/141

Chromosome

15

Position

71811590

Gene

NR2E3

is a	snp
is	mentioned by
dbSNP	rs104894492
dbSNP (classic)	rs104894492
ClinGen	rs104894492
ebi	rs104894492
HLI	rs104894492
Exac	rs104894492
Gnomad	rs104894492
Varsome	rs104894492
LitVar	rs104894492
Map	rs104894492
PheGenI	rs104894492
Biobank	rs104894492
1000 genomes	rs104894492
hgdp	rs104894492
ensembl	rs104894492
geneview	rs104894492
scholar	rs104894492
google	rs104894492
pharmgkb	rs104894492
gwascentral	rs104894492
openSNP	rs104894492
23andMe	rs104894492
SNPshot	rs104894492
SNPdbe	rs104894492
MSV3d	rs104894492
GWAS Ctlg	rs104894492

Max Magnitude

0

OMIM	604485
Desc
Variant	0002
Related	also

ClinVar
Risk	rs104894492(T;T)
Alt	rs104894492(T;T)
Reference	Rs104894492(C;C)
Significance	Pathogenic
Disease	Enhanced s-cone syndrome
Variation	info
Gene	NR2E3
CLNDBN	Enhanced s-cone syndrome
Reversed	0
HGVS	NC_000015.9:g.72103930C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000005866.3,