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rs104894373

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104894373(G;G)
Make rs104894373(G;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position55721908
GeneRDH5, RPL12P34
is asnp
is mentioned by
dbSNPrs104894373
ebirs104894373
HLIrs104894373
Exacrs104894373
Varsomers104894373
Maprs104894373
PheGenIrs104894373
hapmaprs104894373
1000 genomesrs104894373
hgdprs104894373
ensemblrs104894373
gopubmedrs104894373
geneviewrs104894373
scholarrs104894373
googlers104894373
pharmgkbrs104894373
gwascentralrs104894373
openSNPrs104894373
23andMers104894373
23andMe allrs104894373
SNP Nexus

SNPshotrs104894373
SNPdbers104894373
MSV3drs104894373
GWAS Ctlgrs104894373
Max Magnitude0
OMIM601617
Desc
Variant0005
Relatedalso
ClinVar
Risk rs104894373(G;G)
Alt rs104894373(G;G)
Reference rs104894373(T;T)
Significance Pathogenic
Disease Fundus albipunctatus
Variation info
Gene RDH5 BLOC1S1-RDH5
CLNDBN Fundus albipunctatus, autosomal recessive
Reversed 0
HGVS NC_000012.11:g.56115692T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000008471.2,