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rs398122962

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs398122962(-;-)
Make rs398122962(-;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position181603898
GeneCERKL
is asnp
is mentioned by
dbSNPrs398122962
dbSNP (classic)rs398122962
ClinGenrs398122962
ebirs398122962
HLIrs398122962
Exacrs398122962
Gnomadrs398122962
Varsomers398122962
LitVarrs398122962
Maprs398122962
PheGenIrs398122962
Biobankrs398122962
1000 genomesrs398122962
hgdprs398122962
ensemblrs398122962
geneviewrs398122962
scholarrs398122962
googlers398122962
pharmgkbrs398122962
gwascentralrs398122962
openSNPrs398122962
23andMers398122962
SNPshotrs398122962
SNPdbers398122962
MSV3drs398122962
GWAS Ctlgrs398122962
Max Magnitude0
ClinVar
Risk rs398122962(-;-)
Alt rs398122962(-;-)
Reference Rs398122962(T;T)
Significance Pathogenic
Disease Retinitis pigmentosa 26
Variation info
Gene CERKL
CLNDBN Retinitis pigmentosa 26
Reversed 1
HGVS NC_000002.11:g.182468625delA
CLNSRC OMIM Allelic Variant
CLNACC RCV000076910.4,