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rs62636300

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs62636300(A;G)
Make rs62636300(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position68431328
GeneRPE65
is asnp
is mentioned by
dbSNPrs62636300
ebirs62636300
HLIrs62636300
Exacrs62636300
Varsomers62636300
Maprs62636300
PheGenIrs62636300
hapmaprs62636300
1000 genomesrs62636300
hgdprs62636300
ensemblrs62636300
gopubmedrs62636300
geneviewrs62636300
scholarrs62636300
googlers62636300
pharmgkbrs62636300
gwascentralrs62636300
openSNPrs62636300
23andMers62636300
23andMe allrs62636300
SNP Nexus

SNPshotrs62636300
SNPdbers62636300
MSV3drs62636300
GWAS Ctlgrs62636300
Max Magnitude0
ClinVar
Risk rs62636300(G;G)
Alt rs62636300(G;G)
Reference rs62636300(A;A)
Significance Pathogenic
Disease Leber congenital amaurosis 2 not provided
Variation info
Gene RPE65
CLNDBN Leber congenital amaurosis 2 not provided
Reversed 1
HGVS NC_000001.10:g.68897011T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000022754.17, RCV000085161.1,