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rs1057516126

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057516126(-;TGGGC)
Make rs1057516126(TGGGC;TGGGC)
ReferenceGRCh38.p7 38.3/150
Chromosome20
Position63406659
GeneKCNQ2
is asnp
is mentioned by
dbSNPrs1057516126
dbSNP (old)rs1057516126
ClinGenrs1057516126
ebirs1057516126
HLIrs1057516126
Exacrs1057516126
Gnomadrs1057516126
Varsomers1057516126
Maprs1057516126
PheGenIrs1057516126
Biobankrs1057516126
1000 genomesrs1057516126
hgdprs1057516126
ensemblrs1057516126
gopubmedrs1057516126
geneviewrs1057516126
scholarrs1057516126
googlers1057516126
pharmgkbrs1057516126
gwascentralrs1057516126
openSNPrs1057516126
23andMers1057516126
23andMe allrs1057516126
SNPshotrs1057516126
SNPdbers1057516126
MSV3drs1057516126
GWAS Ctlgrs1057516126
Max Magnitude0
ClinVar
Risk rs1057516126(TGGGC;TGGGC)
Alt rs1057516126(TGGGC;TGGGC)
Reference Rs1057516126(-;-)
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.62038013_62038017dupGCCCA
CLNSRC
CLNACC RCV000408753.1,