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rs62638193

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs62638193(G;T)
Make rs62638193(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position55724427
GeneRDH5, RPL12P34
is asnp
is mentioned by
dbSNPrs62638193
ebirs62638193
HLIrs62638193
Exacrs62638193
Varsomers62638193
Maprs62638193
PheGenIrs62638193
hapmaprs62638193
1000 genomesrs62638193
hgdprs62638193
ensemblrs62638193
gopubmedrs62638193
geneviewrs62638193
scholarrs62638193
googlers62638193
pharmgkbrs62638193
gwascentralrs62638193
openSNPrs62638193
23andMers62638193
23andMe allrs62638193
SNP Nexus

SNPshotrs62638193
SNPdbers62638193
MSV3drs62638193
GWAS Ctlgrs62638193
Max Magnitude0
OMIM601617
Desc
Variant0003
Relatedalso
ClinVar
Risk rs62638193(A,T;A,T)
Alt rs62638193(A,T;A,T)
Reference rs62638193(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.56118211G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000008469.2,