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rs587777264

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587777264(A;A)
Make rs587777264(A;G)
ReferenceGRCh38 38.1/142
Chromosome9
Position135759686
GeneKCNT1
is asnp
is mentioned by
dbSNPrs587777264
dbSNP (classic)rs587777264
ClinGenrs587777264
ebirs587777264
HLIrs587777264
Exacrs587777264
Gnomadrs587777264
Varsomers587777264
LitVarrs587777264
Maprs587777264
PheGenIrs587777264
Biobankrs587777264
1000 genomesrs587777264
hgdprs587777264
ensemblrs587777264
geneviewrs587777264
scholarrs587777264
googlers587777264
pharmgkbrs587777264
gwascentralrs587777264
openSNPrs587777264
23andMers587777264
SNPshotrs587777264
SNPdbers587777264
MSV3drs587777264
GWAS Ctlgrs587777264
Max Magnitude0
ClinVar
Risk rs587777264(A;A)
Alt rs587777264(A;A)
Reference Rs587777264(G;G)
Significance Pathogenic
Disease Early infantile epileptic encephalopathy 14 not provided
Variation info
Gene KCNT1
CLNDBN Early infantile epileptic encephalopathy 14 not provided
Reversed 0
HGVS NC_000009.11:g.138651532G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000114361.3, RCV000255411.1,