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rs1057516117

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(TC;TC) 0 common in clinvar
Make rs1057516117(-;-)
Make rs1057516117(-;TC)
ReferenceGRCh38.p7 38.3/150
Chromosome20
Position63415009
GeneKCNQ2
is asnp
is mentioned by
dbSNPrs1057516117
dbSNP (old)rs1057516117
ClinGenrs1057516117
ebirs1057516117
HLIrs1057516117
Exacrs1057516117
Gnomadrs1057516117
Varsomers1057516117
Maprs1057516117
PheGenIrs1057516117
Biobankrs1057516117
1000 genomesrs1057516117
hgdprs1057516117
ensemblrs1057516117
gopubmedrs1057516117
geneviewrs1057516117
scholarrs1057516117
googlers1057516117
pharmgkbrs1057516117
gwascentralrs1057516117
openSNPrs1057516117
23andMers1057516117
23andMe allrs1057516117
SNPshotrs1057516117
SNPdbers1057516117
MSV3drs1057516117
GWAS Ctlgrs1057516117
Max Magnitude0
ClinVar
Risk rs1057516117(-;-)
Alt rs1057516117(-;-)
Reference Rs1057516117(TC;TC)
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.62046362_62046363delGA
CLNSRC
CLNACC RCV000408661.1,