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rs104894374

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894374(C;T)
Make rs104894374(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position55721847
GeneRDH5, RPL12P34
is asnp
is mentioned by
dbSNPrs104894374
ebirs104894374
HLIrs104894374
Exacrs104894374
Varsomers104894374
Maprs104894374
PheGenIrs104894374
hapmaprs104894374
1000 genomesrs104894374
hgdprs104894374
ensemblrs104894374
gopubmedrs104894374
geneviewrs104894374
scholarrs104894374
googlers104894374
pharmgkbrs104894374
gwascentralrs104894374
openSNPrs104894374
23andMers104894374
23andMe allrs104894374
SNP Nexus

SNPshotrs104894374
SNPdbers104894374
MSV3drs104894374
GWAS Ctlgrs104894374
Max Magnitude0
OMIM601617
Desc
Variant0008
Relatedalso
ClinVar
Risk rs104894374(T;T)
Alt rs104894374(T;T)
Reference rs104894374(C;C)
Significance Pathogenic
Disease Fundus albipunctatus
Variation info
Gene RDH5 BLOC1S1-RDH5
CLNDBN Fundus albipunctatus, autosomal recessive
Reversed 0
HGVS NC_000012.11:g.56115631C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000008474.2,