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rs28937873

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs28937873(A;A)
Make rs28937873(A;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position71813573
GeneNR2E3
is asnp
is mentioned by
dbSNPrs28937873
ebirs28937873
HLIrs28937873
Exacrs28937873
Varsomers28937873
Maprs28937873
PheGenIrs28937873
hapmaprs28937873
1000 genomesrs28937873
hgdprs28937873
ensemblrs28937873
gopubmedrs28937873
geneviewrs28937873
scholarrs28937873
googlers28937873
pharmgkbrs28937873
gwascentralrs28937873
openSNPrs28937873
23andMers28937873
23andMe allrs28937873
SNP Nexus

SNPshotrs28937873
SNPdbers28937873
MSV3drs28937873
GWAS Ctlgrs28937873
GMAF0.001837
Max Magnitude0
OMIM604485
DescENHANCED S-CONE SYNDROME
Variant0005
Relatedalso


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
Variation info
Gene NR2E3
CLNDBN Enhanced s-cone syndrome Goldmann-favre syndrome not provided
Reversed 0
HGVS NC_000015.9:g.72105913G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000005869.2, RCV000005870.3, RCV000171240.1,