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rs62638194

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs62638194(G;G)
Make rs62638194(G;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position55724429
GeneRDH5, RPL12P34
is asnp
is mentioned by
dbSNPrs62638194
ebirs62638194
HLIrs62638194
Exacrs62638194
Varsomers62638194
Maprs62638194
PheGenIrs62638194
hapmaprs62638194
1000 genomesrs62638194
hgdprs62638194
ensemblrs62638194
gopubmedrs62638194
geneviewrs62638194
scholarrs62638194
googlers62638194
pharmgkbrs62638194
gwascentralrs62638194
openSNPrs62638194
23andMers62638194
23andMe allrs62638194
SNP Nexus

SNPshotrs62638194
SNPdbers62638194
MSV3drs62638194
GWAS Ctlgrs62638194
Max Magnitude0
OMIM601617
Desc
Variant0006
Relatedalso


ClinVar
Risk rs62638194(C,G;C,G)
Alt rs62638194(C,G;C,G)
Reference rs62638194(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.56118213T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000008472.2,