Have questions? Visit https://www.reddit.com/r/SNPedia

rs797044544

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs797044544(A;A)
Make rs797044544(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position135778781
GeneKCNT1
is asnp
is mentioned by
dbSNPrs797044544
dbSNP (classic)rs797044544
ClinGenrs797044544
ebirs797044544
HLIrs797044544
Exacrs797044544
Gnomadrs797044544
Varsomers797044544
LitVarrs797044544
Maprs797044544
PheGenIrs797044544
Biobankrs797044544
1000 genomesrs797044544
hgdprs797044544
ensemblrs797044544
geneviewrs797044544
scholarrs797044544
googlers797044544
pharmgkbrs797044544
gwascentralrs797044544
openSNPrs797044544
23andMers797044544
SNPshotrs797044544
SNPdbers797044544
MSV3drs797044544
GWAS Ctlgrs797044544
Max Magnitude0
ClinVar
Risk rs797044544(A;A) rs797044544(C;C)
Alt rs797044544(A;A) rs797044544(C;C)
Reference Rs797044544(G;G)
Significance Pathogenic
Disease Epilepsy not provided
Variation info
Gene KCNT1
CLNDBN Epilepsy, nocturnal frontal lobe, 5 not provided
Reversed 0
HGVS NC_000009.11:g.138670627G>A; NC_000009.11:g.138670627G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000192060.2, RCV000425537.1,