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rs397515489

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397515489(C;T)
Make rs397515489(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position43403222
GeneSZT2
is asnp
is mentioned by
dbSNPrs397515489
ebirs397515489
HLIrs397515489
Exacrs397515489
Varsomers397515489
Maprs397515489
PheGenIrs397515489
hapmaprs397515489
1000 genomesrs397515489
hgdprs397515489
ensemblrs397515489
gopubmedrs397515489
geneviewrs397515489
scholarrs397515489
googlers397515489
pharmgkbrs397515489
gwascentralrs397515489
openSNPrs397515489
23andMers397515489
23andMe allrs397515489
SNP Nexus

SNPshotrs397515489
SNPdbers397515489
MSV3drs397515489
GWAS Ctlgrs397515489
Max Magnitude0
ClinVar
Risk rs397515489(T;T)
Alt rs397515489(T;T)
Reference rs397515489(C;C)
Significance Pathogenic
Disease Early infantile epileptic encephalopathy 18
Variation info
Gene SZT2
CLNDBN Early infantile epileptic encephalopathy 18
Reversed 0
HGVS NC_000001.10:g.43868893C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000057518.2,