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rs1057518668

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057518668(-;-)
Make rs1057518668(-;C)
ReferenceGRCh38.p7 38.3/150
Chromosome20
Position63406967
GeneKCNQ2
is asnp
is mentioned by
dbSNPrs1057518668
dbSNP (old)rs1057518668
ClinGenrs1057518668
ebirs1057518668
HLIrs1057518668
Exacrs1057518668
Gnomadrs1057518668
Varsomers1057518668
LitVarrs1057518668
Maprs1057518668
PheGenIrs1057518668
Biobankrs1057518668
1000 genomesrs1057518668
hgdprs1057518668
ensemblrs1057518668
gopubmedrs1057518668
geneviewrs1057518668
scholarrs1057518668
googlers1057518668
pharmgkbrs1057518668
gwascentralrs1057518668
openSNPrs1057518668
23andMers1057518668
23andMe allrs1057518668
SNPshotrs1057518668
SNPdbers1057518668
MSV3drs1057518668
GWAS Ctlgrs1057518668
Max Magnitude0
ClinVar
Risk rs1057518668(-;-)
Alt rs1057518668(-;-)
Reference Rs1057518668(C;C)
Significance Pathogenic
Disease Early infantile epileptic encephalopathy 7
Variation info
Gene KCNQ2
CLNDBN Early infantile epileptic encephalopathy 7
Reversed 1
HGVS NC_000020.10:g.62038320delG
CLNSRC
CLNACC RCV000415050.1,