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rs111033593

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs111033593(C;C)
Make rs111033593(C;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position55724468
GeneRDH5, RPL12P34
is asnp
is mentioned by
dbSNPrs111033593
ebirs111033593
HLIrs111033593
Exacrs111033593
Varsomers111033593
Maprs111033593
PheGenIrs111033593
hapmaprs111033593
1000 genomesrs111033593
hgdprs111033593
ensemblrs111033593
gopubmedrs111033593
geneviewrs111033593
scholarrs111033593
googlers111033593
pharmgkbrs111033593
gwascentralrs111033593
openSNPrs111033593
23andMers111033593
23andMe allrs111033593
SNP Nexus

SNPshotrs111033593
SNPdbers111033593
MSV3drs111033593
GWAS Ctlgrs111033593
Max Magnitude0
OMIM601617
Desc
Variant0004
Relatedalso
ClinVar
Risk rs111033593(C;C)
Alt rs111033593(C;C)
Reference rs111033593(G;G)
Significance Pathogenic
Disease Fundus albipunctatus
Variation info
Gene RDH5 BLOC1S1-RDH5
CLNDBN Fundus albipunctatus, autosomal recessive
Reversed 0
HGVS NC_000012.11:g.56118252G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000008470.2,