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rs104894492

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894492(C;T)
Make rs104894492(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position71811590
GeneNR2E3
is asnp
is mentioned by
dbSNPrs104894492
ebirs104894492
HLIrs104894492
Exacrs104894492
Varsomers104894492
Maprs104894492
PheGenIrs104894492
hapmaprs104894492
1000 genomesrs104894492
hgdprs104894492
ensemblrs104894492
gopubmedrs104894492
geneviewrs104894492
scholarrs104894492
googlers104894492
pharmgkbrs104894492
gwascentralrs104894492
openSNPrs104894492
23andMers104894492
23andMe allrs104894492
SNP Nexus

SNPshotrs104894492
SNPdbers104894492
MSV3drs104894492
GWAS Ctlgrs104894492
Max Magnitude0
OMIM604485
Desc
Variant0002
Relatedalso
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
CLNACC RCV000005866.2,