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rs867599353

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs867599353(A;G)
Make rs867599353(G;G)
ReferenceGRCh38.p7 38.3/150
ChromosomeX
Position111685000
GeneALG13
is asnp
is mentioned by
dbSNPrs867599353
dbSNP (classic)rs867599353
ClinGenrs867599353
ebirs867599353
HLIrs867599353
Exacrs867599353
Gnomadrs867599353
Varsomers867599353
LitVarrs867599353
Maprs867599353
PheGenIrs867599353
Biobankrs867599353
1000 genomesrs867599353
hgdprs867599353
ensemblrs867599353
geneviewrs867599353
scholarrs867599353
googlers867599353
pharmgkbrs867599353
gwascentralrs867599353
openSNPrs867599353
23andMers867599353
23andMe allrs867599353
SNPshotrs867599353
SNPdbers867599353
MSV3drs867599353
GWAS Ctlgrs867599353
Max Magnitude0
ClinVar
Risk rs867599353(G;G)
Alt rs867599353(G;G)
Reference Rs867599353(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,