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rs62637004

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs62637004(G;G)
Make rs62637004(G;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position68431160
GeneRPE65
is asnp
is mentioned by
dbSNPrs62637004
dbSNP (classic)rs62637004
ClinGenrs62637004
ebirs62637004
HLIrs62637004
Exacrs62637004
Gnomadrs62637004
Varsomers62637004
LitVarrs62637004
Maprs62637004
PheGenIrs62637004
Biobankrs62637004
1000 genomesrs62637004
hgdprs62637004
ensemblrs62637004
geneviewrs62637004
scholarrs62637004
googlers62637004
pharmgkbrs62637004
gwascentralrs62637004
openSNPrs62637004
23andMers62637004
SNPshotrs62637004
SNPdbers62637004
MSV3drs62637004
GWAS Ctlgrs62637004
Max Magnitude0
ClinVar
Risk rs62637004(G;G)
Alt rs62637004(G;G)
Reference Rs62637004(T;T)
Significance Pathogenic
Disease Retinitis pigmentosa 20 not provided
Variation info
Gene RPE65
CLNDBN Retinitis pigmentosa 20 not provided
Reversed 1
HGVS NC_000001.10:g.68896843A>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000013995.24, RCV000085169.1,