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rs1057516108

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057516108(C;C)
Make rs1057516108(C;T)
ReferenceGRCh38.p7 38.3/150
Chromosome20
Position63433873
GeneKCNQ2, LOC105372721
is asnp
is mentioned by
dbSNPrs1057516108
dbSNP (old)rs1057516108
ClinGenrs1057516108
ebirs1057516108
HLIrs1057516108
Exacrs1057516108
Gnomadrs1057516108
Varsomers1057516108
LitVarrs1057516108
Maprs1057516108
PheGenIrs1057516108
Biobankrs1057516108
1000 genomesrs1057516108
hgdprs1057516108
ensemblrs1057516108
gopubmedrs1057516108
geneviewrs1057516108
scholarrs1057516108
googlers1057516108
pharmgkbrs1057516108
gwascentralrs1057516108
openSNPrs1057516108
23andMers1057516108
23andMe allrs1057516108
SNPshotrs1057516108
SNPdbers1057516108
MSV3drs1057516108
GWAS Ctlgrs1057516108
Max Magnitude0
ClinVar
Risk rs1057516108(C;C)
Alt rs1057516108(C;C)
Reference Rs1057516108(T;T)
Significance Pathogenic
Disease Benign familial neonatal seizures 1
Variation info
Gene KCNQ2
CLNDBN Benign familial neonatal seizures 1
Reversed 1
HGVS NC_000020.10:g.62065226A>G
CLNSRC
CLNACC RCV000408704.1,