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rs115352681

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs115352681(C;T)
Make rs115352681(T;T)
ReferenceGRCh38.p7 38.3/149
Chromosome1
Position197421010
GeneCRB1
is asnp
is mentioned by
dbSNPrs115352681
dbSNP (classic)rs115352681
ClinGenrs115352681
ebirs115352681
HLIrs115352681
Exacrs115352681
Gnomadrs115352681
Varsomers115352681
LitVarrs115352681
Maprs115352681
PheGenIrs115352681
Biobankrs115352681
1000 genomesrs115352681
hgdprs115352681
ensemblrs115352681
geneviewrs115352681
scholarrs115352681
googlers115352681
pharmgkbrs115352681
gwascentralrs115352681
openSNPrs115352681
23andMers115352681
SNPshotrs115352681
SNPdbers115352681
MSV3drs115352681
GWAS Ctlgrs115352681
Max Magnitude0
ClinVar
Risk rs115352681(A;A) rs115352681(T;T)
Alt rs115352681(A;A) rs115352681(T;T)
Reference Rs115352681(C;C)
Significance Pathogenic
Disease Leber congenital amaurosis 8
Variation info
Gene CRB1
CLNDBN Leber congenital amaurosis 8
Reversed 0
HGVS NC_000001.10:g.197390140C>A
CLNSRC
CLNACC RCV000322587.1,