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rs61751281

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs61751281(A;A)
Make rs61751281(A;G)
ReferenceGRCh38 38.1/142
Chromosome1
Position68446837
GeneRPE65
is asnp
is mentioned by
dbSNPrs61751281
dbSNP (classic)rs61751281
ClinGenrs61751281
ebirs61751281
HLIrs61751281
Exacrs61751281
Gnomadrs61751281
Varsomers61751281
LitVarrs61751281
Maprs61751281
PheGenIrs61751281
Biobankrs61751281
1000 genomesrs61751281
hgdprs61751281
ensemblrs61751281
geneviewrs61751281
scholarrs61751281
googlers61751281
pharmgkbrs61751281
gwascentralrs61751281
openSNPrs61751281
23andMers61751281
SNPshotrs61751281
SNPdbers61751281
MSV3drs61751281
GWAS Ctlgrs61751281
Max Magnitude0


ClinVar
Risk rs61751281(A;A)
Alt rs61751281(A;A)
Reference Rs61751281(G;G)
Significance Pathogenic
Disease not provided Retinitis pigmentosa
Variation info
Gene RPE65
CLNDBN not provided Retinitis pigmentosa
Reversed 1
HGVS NC_000001.10:g.68912520C>T
CLNSRC UniProtKB (protein)
CLNACC RCV000085155.2, RCV000132582.1,