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rs62638185

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs62638185(C;T)
Make rs62638185(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position55721402
GeneRDH5, RPL12P34
is asnp
is mentioned by
dbSNPrs62638185
ebirs62638185
HLIrs62638185
Exacrs62638185
Varsomers62638185
Maprs62638185
PheGenIrs62638185
hapmaprs62638185
1000 genomesrs62638185
hgdprs62638185
ensemblrs62638185
gopubmedrs62638185
geneviewrs62638185
scholarrs62638185
googlers62638185
pharmgkbrs62638185
gwascentralrs62638185
openSNPrs62638185
23andMers62638185
23andMe allrs62638185
SNP Nexus

SNPshotrs62638185
SNPdbers62638185
MSV3drs62638185
GWAS Ctlgrs62638185
Max Magnitude0
OMIM601617
Desc
Variant0002
Relatedalso


ClinVar
Risk rs62638185(T;T)
Alt rs62638185(T;T)
Reference rs62638185(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.56115186C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000008468.2,