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rs1057518922

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057518922(A;A)
Make rs1057518922(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position68431281
GeneRPE65
is asnp
is mentioned by
dbSNPrs1057518922
dbSNP (old)rs1057518922
ClinGenrs1057518922
ebirs1057518922
HLIrs1057518922
Exacrs1057518922
Gnomadrs1057518922
Varsomers1057518922
LitVarrs1057518922
Maprs1057518922
PheGenIrs1057518922
Biobankrs1057518922
1000 genomesrs1057518922
hgdprs1057518922
ensemblrs1057518922
gopubmedrs1057518922
geneviewrs1057518922
scholarrs1057518922
googlers1057518922
pharmgkbrs1057518922
gwascentralrs1057518922
openSNPrs1057518922
23andMers1057518922
23andMe allrs1057518922
SNPshotrs1057518922
SNPdbers1057518922
MSV3drs1057518922
GWAS Ctlgrs1057518922
Max Magnitude0
ClinVar
Risk rs1057518922(A;A)
Alt rs1057518922(A;A)
Reference Rs1057518922(G;G)
Significance Pathogenic
Disease Abnormal electroretinogram Abnormality of vision Congenital blindness Retinal degeneration
Variation info
Gene RPE65
CLNDBN Abnormal electroretinogram Abnormality of vision Congenital blindness Retinal degeneration
Reversed 1
HGVS NC_000001.10:g.68896964C>T
CLNSRC
CLNACC RCV000415360.1,