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rs1057516097

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516097(A;A)
Make rs1057516097(A;C)
ReferenceGRCh38.p7 38.3/150
Chromosome20
Position63439671
GeneKCNQ2
is asnp
is mentioned by
dbSNPrs1057516097
dbSNP (old)rs1057516097
ClinGenrs1057516097
ebirs1057516097
HLIrs1057516097
Exacrs1057516097
Gnomadrs1057516097
Varsomers1057516097
LitVarrs1057516097
Maprs1057516097
PheGenIrs1057516097
Biobankrs1057516097
1000 genomesrs1057516097
hgdprs1057516097
ensemblrs1057516097
gopubmedrs1057516097
geneviewrs1057516097
scholarrs1057516097
googlers1057516097
pharmgkbrs1057516097
gwascentralrs1057516097
openSNPrs1057516097
23andMers1057516097
23andMe allrs1057516097
SNPshotrs1057516097
SNPdbers1057516097
MSV3drs1057516097
GWAS Ctlgrs1057516097
Max Magnitude0
ClinVar
Risk rs1057516097(A;A)
Alt rs1057516097(A;A)
Reference Rs1057516097(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.62071024G>T
CLNSRC
CLNACC RCV000408692.1,