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rs869312682

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs869312682(C;T)
Make rs869312682(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome9
Position135714602
GeneKCNT1, LOC105376320
is asnp
is mentioned by
dbSNPrs869312682
ebirs869312682
HLIrs869312682
Exacrs869312682
Varsomers869312682
Maprs869312682
PheGenIrs869312682
hapmaprs869312682
1000 genomesrs869312682
hgdprs869312682
ensemblrs869312682
gopubmedrs869312682
geneviewrs869312682
scholarrs869312682
googlers869312682
pharmgkbrs869312682
gwascentralrs869312682
openSNPrs869312682
23andMers869312682
23andMe allrs869312682
SNP Nexus

SNPshotrs869312682
SNPdbers869312682
MSV3drs869312682
GWAS Ctlgrs869312682
Max Magnitude0
ClinVar
Risk rs869312682(T;T)
Alt rs869312682(T;T)
Reference rs869312682(C;C)
Significance Probable-Pathogenic
Disease Early infantile epileptic encephalopathy 14
Variation info
Gene KCNT1
CLNDBN Early infantile epileptic encephalopathy 14
Reversed 0
HGVS NC_000009.11:g.138606448C>T
CLNSRC
CLNACC RCV000209840.1,