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rs398122963

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs398122963(A;T)
Make rs398122963(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position181573768
GeneCERKL
is asnp
is mentioned by
dbSNPrs398122963
dbSNP (classic)rs398122963
ClinGenrs398122963
ebirs398122963
HLIrs398122963
Exacrs398122963
Gnomadrs398122963
Varsomers398122963
LitVarrs398122963
Maprs398122963
PheGenIrs398122963
Biobankrs398122963
1000 genomesrs398122963
hgdprs398122963
ensemblrs398122963
geneviewrs398122963
scholarrs398122963
googlers398122963
pharmgkbrs398122963
gwascentralrs398122963
openSNPrs398122963
23andMers398122963
SNPshotrs398122963
SNPdbers398122963
MSV3drs398122963
GWAS Ctlgrs398122963
Max Magnitude0
ClinVar
Risk rs398122963(T;T)
Alt rs398122963(T;T)
Reference Rs398122963(A;A)
Significance Pathogenic
Disease Retinitis pigmentosa 26
Variation info
Gene CERKL
CLNDBN Retinitis pigmentosa 26
Reversed 1
HGVS NC_000002.11:g.182438495T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000076911.3,