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rs104894493

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894493(A;A)
Make rs104894493(A;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position71811591
GeneNR2E3
is asnp
is mentioned by
dbSNPrs104894493
ebirs104894493
HLIrs104894493
Exacrs104894493
Varsomers104894493
Maprs104894493
PheGenIrs104894493
hapmaprs104894493
1000 genomesrs104894493
hgdprs104894493
ensemblrs104894493
gopubmedrs104894493
geneviewrs104894493
scholarrs104894493
googlers104894493
pharmgkbrs104894493
gwascentralrs104894493
openSNPrs104894493
23andMers104894493
23andMe allrs104894493
SNP Nexus

SNPshotrs104894493
SNPdbers104894493
MSV3drs104894493
GWAS Ctlgrs104894493
Max Magnitude0
OMIM604485
Desc
Variant0003
Relatedalso
ClinVar
Risk rs104894493(A;A)
Alt rs104894493(A;A)
Reference rs104894493(G;G)
Significance Pathogenic
Disease Enhanced s-cone syndrome
Variation info
Gene NR2E3
CLNDBN Enhanced s-cone syndrome
Reversed 0
HGVS NC_000015.9:g.72103931G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000005867.2,