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rs397515490

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397515490(C;T)
Make rs397515490(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position43423153
GeneSZT2
is asnp
is mentioned by
dbSNPrs397515490
dbSNP (old)rs397515490
ClinGenrs397515490
ebirs397515490
HLIrs397515490
Exacrs397515490
Gnomadrs397515490
Varsomers397515490
Maprs397515490
PheGenIrs397515490
Biobankrs397515490
1000 genomesrs397515490
hgdprs397515490
ensemblrs397515490
gopubmedrs397515490
geneviewrs397515490
scholarrs397515490
googlers397515490
pharmgkbrs397515490
gwascentralrs397515490
openSNPrs397515490
23andMers397515490
23andMe allrs397515490
SNP Nexus

SNPshotrs397515490
SNPdbers397515490
MSV3drs397515490
GWAS Ctlgrs397515490
Max Magnitude0
ClinVar
Risk rs397515490(T;T)
Alt rs397515490(T;T)
Reference Rs397515490(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.43888824C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000057519.4,