rs104894493

Orientation

plus

Stabilized

plus

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

Make rs104894493(A;A)

Make rs104894493(A;G)

Reference

GRCh38 38.1/141

Chromosome

15

Position

71811591

Gene

NR2E3

is a	snp
is	mentioned by
dbSNP	rs104894493
dbSNP (classic)	rs104894493
ClinGen	rs104894493
ebi	rs104894493
HLI	rs104894493
Exac	rs104894493
Gnomad	rs104894493
Varsome	rs104894493
LitVar	rs104894493
Map	rs104894493
PheGenI	rs104894493
Biobank	rs104894493
1000 genomes	rs104894493
hgdp	rs104894493
ensembl	rs104894493
geneview	rs104894493
scholar	rs104894493
google	rs104894493
pharmgkb	rs104894493
gwascentral	rs104894493
openSNP	rs104894493
23andMe	rs104894493
SNPshot	rs104894493
SNPdbe	rs104894493
MSV3d	rs104894493
GWAS Ctlg	rs104894493

Max Magnitude

0

OMIM	604485
Desc
Variant	0003
Related	also

ClinVar
Risk	rs104894493(A;A)
Alt	rs104894493(A;A)
Reference	Rs104894493(G;G)
Significance	Pathogenic
Disease	Enhanced s-cone syndrome NR2E3-Related Disorders
Variation	info
Gene	NR2E3
CLNDBN	Enhanced s-cone syndrome NR2E3-Related Disorders
Reversed	0
HGVS	NC_000015.9:g.72103931G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000005867.4, RCV000261496.1,