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

rs1057516110

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516110(C;T)
Make rs1057516110(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome20
Position63433854
GeneKCNQ2, LOC105372721
is asnp
is mentioned by
dbSNPrs1057516110
dbSNP (old)rs1057516110
ClinGenrs1057516110
ebirs1057516110
HLIrs1057516110
Exacrs1057516110
Gnomadrs1057516110
Varsomers1057516110
Maprs1057516110
PheGenIrs1057516110
Biobankrs1057516110
1000 genomesrs1057516110
hgdprs1057516110
ensemblrs1057516110
gopubmedrs1057516110
geneviewrs1057516110
scholarrs1057516110
googlers1057516110
pharmgkbrs1057516110
gwascentralrs1057516110
openSNPrs1057516110
23andMers1057516110
23andMe allrs1057516110
SNPshotrs1057516110
SNPdbers1057516110
MSV3drs1057516110
GWAS Ctlgrs1057516110
Max Magnitude0
ClinVar
Risk rs1057516110(T;T)
Alt rs1057516110(T;T)
Reference Rs1057516110(C;C)
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.62065207G>A
CLNSRC
CLNACC RCV000408708.1,