Have questions? Visit https://www.reddit.com/r/SNPedia

rs1057516092

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516092(C;C)
Make rs1057516092(C;G)
ReferenceGRCh38.p7 38.3/150
Chromosome20
Position63442507
GeneKCNQ2
is asnp
is mentioned by
dbSNPrs1057516092
dbSNP (classic)rs1057516092
ClinGenrs1057516092
ebirs1057516092
HLIrs1057516092
Exacrs1057516092
Gnomadrs1057516092
Varsomers1057516092
LitVarrs1057516092
Maprs1057516092
PheGenIrs1057516092
Biobankrs1057516092
1000 genomesrs1057516092
hgdprs1057516092
ensemblrs1057516092
geneviewrs1057516092
scholarrs1057516092
googlers1057516092
pharmgkbrs1057516092
gwascentralrs1057516092
openSNPrs1057516092
23andMers1057516092
23andMe allrs1057516092
SNPshotrs1057516092
SNPdbers1057516092
MSV3drs1057516092
GWAS Ctlgrs1057516092
Max Magnitude0
ClinVar
Risk rs1057516092(C;C)
Alt rs1057516092(C;C)
Reference Rs1057516092(G;G)
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.62073860C>G
CLNSRC
CLNACC RCV000408722.1,