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rs1057519262

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057519262(C;T)
Make rs1057519262(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position27226128
GeneCAD
is asnp
is mentioned by
dbSNPrs1057519262
dbSNP (old)rs1057519262
ClinGenrs1057519262
ebirs1057519262
HLIrs1057519262
Exacrs1057519262
Gnomadrs1057519262
Varsomers1057519262
LitVarrs1057519262
Maprs1057519262
PheGenIrs1057519262
Biobankrs1057519262
1000 genomesrs1057519262
hgdprs1057519262
ensemblrs1057519262
gopubmedrs1057519262
geneviewrs1057519262
scholarrs1057519262
googlers1057519262
pharmgkbrs1057519262
gwascentralrs1057519262
openSNPrs1057519262
23andMers1057519262
23andMe allrs1057519262
SNPshotrs1057519262
SNPdbers1057519262
MSV3drs1057519262
GWAS Ctlgrs1057519262
Max Magnitude0
ClinVar
Risk rs1057519262(T;T)
Alt rs1057519262(T;T)
Reference Rs1057519262(C;C)
Significance Pathogenic
Disease Epileptic encephalopathy
Variation info
Gene CAD
CLNDBN Epileptic encephalopathy, early infantile, 50
Reversed 0
HGVS NC_000002.11:g.27448996C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000415584.1,