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rs370521183

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs370521183(C;T)
Make rs370521183(T;T)
ReferenceGRCh38 38.1/142
Chromosome9
Position135775346
GeneKCNT1
is asnp
is mentioned by
dbSNPrs370521183
ebirs370521183
HLIrs370521183
Exacrs370521183
Varsomers370521183
Maprs370521183
PheGenIrs370521183
hapmaprs370521183
1000 genomesrs370521183
hgdprs370521183
ensemblrs370521183
gopubmedrs370521183
geneviewrs370521183
scholarrs370521183
googlers370521183
pharmgkbrs370521183
gwascentralrs370521183
openSNPrs370521183
23andMers370521183
23andMe allrs370521183
SNP Nexus

SNPshotrs370521183
SNPdbers370521183
MSV3drs370521183
GWAS Ctlgrs370521183
Max Magnitude0
ClinVar
Risk rs370521183(A,G,T;A,G,T)
Alt rs370521183(A,G,T;A,G,T)
Reference rs370521183(C;C)
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.138667192C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000032796.2,