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rs397514587

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs397514587(A;G)
Make rs397514587(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position111685059
GeneALG13
is asnp
is mentioned by
dbSNPrs397514587
ebirs397514587
HLIrs397514587
Exacrs397514587
Varsomers397514587
Maprs397514587
PheGenIrs397514587
hapmaprs397514587
1000 genomesrs397514587
hgdprs397514587
ensemblrs397514587
gopubmedrs397514587
geneviewrs397514587
scholarrs397514587
googlers397514587
pharmgkbrs397514587
gwascentralrs397514587
openSNPrs397514587
23andMers397514587
23andMe allrs397514587
SNP Nexus

SNPshotrs397514587
SNPdbers397514587
MSV3drs397514587
GWAS Ctlgrs397514587
Max Magnitude0
ClinVar
Risk rs397514587(G;G)
Alt rs397514587(G;G)
Reference rs397514587(A;A)
Significance Pathogenic
Disease Epileptic encephalopathy
Variation info
Gene ALG13
CLNDBN Epileptic encephalopathy, early infantile, 36
Reversed 0
HGVS NC_000023.10:g.110928287A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000032994.9,