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rs769567624

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs769567624(A;A)
Make rs769567624(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position27226130
GeneCAD
is asnp
is mentioned by
dbSNPrs769567624
dbSNP (classic)rs769567624
ClinGenrs769567624
ebirs769567624
HLIrs769567624
Exacrs769567624
Gnomadrs769567624
Varsomers769567624
LitVarrs769567624
Maprs769567624
PheGenIrs769567624
Biobankrs769567624
1000 genomesrs769567624
hgdprs769567624
ensemblrs769567624
geneviewrs769567624
scholarrs769567624
googlers769567624
pharmgkbrs769567624
gwascentralrs769567624
openSNPrs769567624
23andMers769567624
SNPshotrs769567624
SNPdbers769567624
MSV3drs769567624
GWAS Ctlgrs769567624
Max Magnitude0
ClinVar
Risk rs769567624(A;A)
Alt rs769567624(A;A)
Reference Rs769567624(G;G)
Significance Pathogenic
Disease Epileptic encephalopathy
Variation info
Gene CAD
CLNDBN Epileptic encephalopathy, early infantile, 50
Reversed 0
HGVS NC_000002.11:g.27448998G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000185620.3,