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rs886044717

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Chromosome9
Position135779423
GeneKCNT1
is asnp
is mentioned by
dbSNPrs886044717
dbSNP (classic)rs886044717
ClinGenrs886044717
ebirs886044717
HLIrs886044717
Exacrs886044717
Gnomadrs886044717
Varsomers886044717
LitVarrs886044717
Maprs886044717
PheGenIrs886044717
Biobankrs886044717
1000 genomesrs886044717
hgdprs886044717
ensemblrs886044717
geneviewrs886044717
scholarrs886044717
googlers886044717
pharmgkbrs886044717
gwascentralrs886044717
openSNPrs886044717
23andMers886044717
SNPshotrs886044717
SNPdbers886044717
MSV3drs886044717
GWAS Ctlgrs886044717
Max Magnitude0
ClinVar
Risk rs886044717(A;A)
Alt rs886044717(A;A)
Reference Rs886044717(T;T)
Significance Pathogenic
Disease Early infantile epileptic encephalopathy 14
Variation info
Gene KCNT1
CLNDBN Early infantile epileptic encephalopathy 14
Reversed 0
HGVS NC_000009.11:g.138671269T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000077799.3,