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rs267607006

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs267607006(C;GAAG)
Make rs267607006(GAAG;GAAG)
ReferenceGRCh38 38.1/141
Chromosome12
Position55724516
GeneRDH5, RPL12P34
is asnp
is mentioned by
dbSNPrs267607006
ebirs267607006
HLIrs267607006
Exacrs267607006
Varsomers267607006
Maprs267607006
PheGenIrs267607006
hapmaprs267607006
1000 genomesrs267607006
hgdprs267607006
ensemblrs267607006
gopubmedrs267607006
geneviewrs267607006
scholarrs267607006
googlers267607006
pharmgkbrs267607006
gwascentralrs267607006
openSNPrs267607006
23andMers267607006
23andMe allrs267607006
SNP Nexus

SNPshotrs267607006
SNPdbers267607006
MSV3drs267607006
GWAS Ctlgrs267607006
Max Magnitude0
ClinVar
Risk rs267607006(GAAG;GAAG)
Alt rs267607006(GAAG;GAAG)
Reference rs267607006(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.56118300delCinsGAAG
CLNSRC OMIM Allelic Variant
CLNACC RCV000008473.2,