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rs1057516114

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AG;AG) 0 common in clinvar
Make rs1057516114(-;-)
Make rs1057516114(-;AG)
ReferenceGRCh38.p7 38.3/150
Chromosome20
Position63428388
GeneKCNQ2
is asnp
is mentioned by
dbSNPrs1057516114
dbSNP (old)rs1057516114
ClinGenrs1057516114
ebirs1057516114
HLIrs1057516114
Exacrs1057516114
Gnomadrs1057516114
Varsomers1057516114
Maprs1057516114
PheGenIrs1057516114
Biobankrs1057516114
1000 genomesrs1057516114
hgdprs1057516114
ensemblrs1057516114
gopubmedrs1057516114
geneviewrs1057516114
scholarrs1057516114
googlers1057516114
pharmgkbrs1057516114
gwascentralrs1057516114
openSNPrs1057516114
23andMers1057516114
23andMe allrs1057516114
SNPshotrs1057516114
SNPdbers1057516114
MSV3drs1057516114
GWAS Ctlgrs1057516114
Max Magnitude0
ClinVar
Risk rs1057516114(-;-)
Alt rs1057516114(-;-)
Reference Rs1057516114(AG;AG)
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.62059741_62059742delCT
CLNSRC
CLNACC RCV000408681.1,