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rs1057516119

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057516119(A;T)
Make rs1057516119(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome20
Position63414110
GeneKCNQ2
is asnp
is mentioned by
dbSNPrs1057516119
dbSNP (classic)rs1057516119
ClinGenrs1057516119
ebirs1057516119
HLIrs1057516119
Exacrs1057516119
Gnomadrs1057516119
Varsomers1057516119
LitVarrs1057516119
Maprs1057516119
PheGenIrs1057516119
Biobankrs1057516119
1000 genomesrs1057516119
hgdprs1057516119
ensemblrs1057516119
geneviewrs1057516119
scholarrs1057516119
googlers1057516119
pharmgkbrs1057516119
gwascentralrs1057516119
openSNPrs1057516119
23andMers1057516119
23andMe allrs1057516119
SNPshotrs1057516119
SNPdbers1057516119
MSV3drs1057516119
GWAS Ctlgrs1057516119
Max Magnitude0
ClinVar
Risk rs1057516119(T;T)
Alt rs1057516119(T;T)
Reference Rs1057516119(A;A)
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.62045463T>A
CLNSRC
CLNACC RCV000408700.1,