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rs886041034

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Chromosome1
Position43420983
GeneSZT2
is asnp
is mentioned by
dbSNPrs886041034
dbSNP (classic)rs886041034
ClinGenrs886041034
ebirs886041034
HLIrs886041034
Exacrs886041034
Gnomadrs886041034
Varsomers886041034
LitVarrs886041034
Maprs886041034
PheGenIrs886041034
Biobankrs886041034
1000 genomesrs886041034
hgdprs886041034
ensemblrs886041034
geneviewrs886041034
scholarrs886041034
googlers886041034
pharmgkbrs886041034
gwascentralrs886041034
openSNPrs886041034
23andMers886041034
SNPshotrs886041034
SNPdbers886041034
MSV3drs886041034
GWAS Ctlgrs886041034
Max Magnitude0
ClinVar
Risk rs886041034(T;T)
Alt rs886041034(T;T)
Reference Rs886041034(G;G)
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.43886654G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000057520.3,