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rs1057518662

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057518662(-;-)
Make rs1057518662(-;C)
ReferenceGRCh38.p7 38.3/150
Chromosome20
Position63406838
GeneKCNQ2
is asnp
is mentioned by
dbSNPrs1057518662
dbSNP (classic)rs1057518662
ClinGenrs1057518662
ebirs1057518662
HLIrs1057518662
Exacrs1057518662
Gnomadrs1057518662
Varsomers1057518662
LitVarrs1057518662
Maprs1057518662
PheGenIrs1057518662
Biobankrs1057518662
1000 genomesrs1057518662
hgdprs1057518662
ensemblrs1057518662
geneviewrs1057518662
scholarrs1057518662
googlers1057518662
pharmgkbrs1057518662
gwascentralrs1057518662
openSNPrs1057518662
23andMers1057518662
23andMe allrs1057518662
SNPshotrs1057518662
SNPdbers1057518662
MSV3drs1057518662
GWAS Ctlgrs1057518662
Max Magnitude0
ClinVar
Risk rs1057518662(-;-)
Alt rs1057518662(-;-)
Reference Rs1057518662(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.62038191delG
CLNSRC
CLNACC RCV000414826.1,