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rs1057519544

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057519544(A;G)
Make rs1057519544(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position135779468
GeneKCNT1
is asnp
is mentioned by
dbSNPrs1057519544
dbSNP (old)rs1057519544
ClinGenrs1057519544
ebirs1057519544
HLIrs1057519544
Exacrs1057519544
Gnomadrs1057519544
Varsomers1057519544
LitVarrs1057519544
Maprs1057519544
PheGenIrs1057519544
Biobankrs1057519544
1000 genomesrs1057519544
hgdprs1057519544
ensemblrs1057519544
gopubmedrs1057519544
geneviewrs1057519544
scholarrs1057519544
googlers1057519544
pharmgkbrs1057519544
gwascentralrs1057519544
openSNPrs1057519544
23andMers1057519544
23andMe allrs1057519544
SNPshotrs1057519544
SNPdbers1057519544
MSV3drs1057519544
GWAS Ctlgrs1057519544
Max Magnitude0
ClinVar
Risk rs1057519544(G;G)
Alt rs1057519544(G;G)
Reference Rs1057519544(A;A)
Significance Probable-Pathogenic
Disease Malignant migrating partial seizures of infancy
Variation info
Gene KCNT1
CLNDBN Malignant migrating partial seizures of infancy
Reversed 0
HGVS NC_000009.11:g.138671314A>G
CLNSRC
CLNACC RCV000416995.1,