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rs62638191

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs62638191(A;A)
Make rs62638191(A;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position55724028
GeneRDH5, RPL12P34
is asnp
is mentioned by
dbSNPrs62638191
ebirs62638191
HLIrs62638191
Exacrs62638191
Varsomers62638191
Maprs62638191
PheGenIrs62638191
hapmaprs62638191
1000 genomesrs62638191
hgdprs62638191
ensemblrs62638191
gopubmedrs62638191
geneviewrs62638191
scholarrs62638191
googlers62638191
pharmgkbrs62638191
gwascentralrs62638191
openSNPrs62638191
23andMers62638191
23andMe allrs62638191
SNP Nexus

SNPshotrs62638191
SNPdbers62638191
MSV3drs62638191
GWAS Ctlgrs62638191
GMAF0.0009183
Max Magnitude0
OMIM601617
Desc
Variant0001
Relatedalso


ClinVar
Risk rs62638191(A,C,T;A,C,T)
Alt rs62638191(A,C,T;A,C,T)
Reference rs62638191(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.56117812G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000008467.2,