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rs398122394

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs398122394(A;G)
Make rs398122394(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position111685040
GeneALG13
is asnp
is mentioned by
dbSNPrs398122394
ebirs398122394
HLIrs398122394
Exacrs398122394
Varsomers398122394
Maprs398122394
PheGenIrs398122394
hapmaprs398122394
1000 genomesrs398122394
hgdprs398122394
ensemblrs398122394
gopubmedrs398122394
geneviewrs398122394
scholarrs398122394
googlers398122394
pharmgkbrs398122394
gwascentralrs398122394
openSNPrs398122394
23andMers398122394
23andMe allrs398122394
SNP Nexus

SNPshotrs398122394
SNPdbers398122394
MSV3drs398122394
GWAS Ctlgrs398122394
Max Magnitude0
ClinVar
Risk rs398122394(G;G)
Alt rs398122394(G;G)
Reference rs398122394(A;A)
Significance Pathogenic
Disease Epileptic encephalopathy
Variation info
Gene ALG13
CLNDBN Epileptic encephalopathy, early infantile, 36
Reversed 0
HGVS NC_000023.10:g.110928268A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000056321.6,