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rs1057516086

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057516086(C;C)
Make rs1057516086(C;T)
ReferenceGRCh38.p7 38.3/150
Chromosome20
Position63444741
GeneKCNQ2
is asnp
is mentioned by
dbSNPrs1057516086
dbSNP (old)rs1057516086
ClinGenrs1057516086
ebirs1057516086
HLIrs1057516086
Exacrs1057516086
Gnomadrs1057516086
Varsomers1057516086
Maprs1057516086
PheGenIrs1057516086
Biobankrs1057516086
1000 genomesrs1057516086
hgdprs1057516086
ensemblrs1057516086
gopubmedrs1057516086
geneviewrs1057516086
scholarrs1057516086
googlers1057516086
pharmgkbrs1057516086
gwascentralrs1057516086
openSNPrs1057516086
23andMers1057516086
23andMe allrs1057516086
SNPshotrs1057516086
SNPdbers1057516086
MSV3drs1057516086
GWAS Ctlgrs1057516086
Max Magnitude0
ClinVar
Risk rs1057516086(C;C)
Alt rs1057516086(C;C)
Reference Rs1057516086(T;T)
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.62076094A>G
CLNSRC
CLNACC RCV000408729.1,