rs28937873

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;G)	3	Carrier of a mutation associated with enhanced S-cone syndrome and Goldmann-Favre syndrome
(G;G)	0	common in clinvar

Make rs28937873(A;A)

Reference

GRCh38 38.1/141

Chromosome

15

Position

71813573

Gene

NR2E3

is a	snp
is	mentioned by
dbSNP	rs28937873
dbSNP (classic)	rs28937873
ClinGen	rs28937873
ebi	rs28937873
HLI	rs28937873
Exac	rs28937873
Gnomad	rs28937873
Varsome	rs28937873
LitVar	rs28937873
Map	rs28937873
PheGenI	rs28937873
Biobank	rs28937873
1000 genomes	rs28937873
hgdp	rs28937873
ensembl	rs28937873
geneview	rs28937873
scholar	rs28937873
google	rs28937873
pharmgkb	rs28937873
gwascentral	rs28937873
openSNP	rs28937873
23andMe	rs28937873
SNPshot	rs28937873
SNPdbe	rs28937873
MSV3d	rs28937873
GWAS Ctlg	rs28937873

GMAF

0.001837

Max Magnitude

3

aka c.932G>A (p.Arg311Gln or R311Q)

OMIM	604485
Desc	ENHANCED S-CONE SYNDROME
Variant	0005
Related	also

ClinVar
Risk	rs28937873(A;A)
Alt	rs28937873(A;A)
Reference	Rs28937873(G;G)
Significance	Pathogenic
Disease	Enhanced s-cone syndrome Goldmann-Favre syndrome not provided NR2E3-Related Disorders
Variation	info
Gene	NR2E3
CLNDBN	Enhanced s-cone syndrome Goldmann-Favre syndrome not provided NR2E3-Related Disorders
Reversed	0
HGVS	NC_000015.9:g.72105913G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000005869.4, RCV000005870.3, RCV000171240.1, RCV000393548.1,