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rs1057516091

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057516091(A;C)
Make rs1057516091(C;C)
ReferenceGRCh38.p7 38.3/150
Chromosome20
Position63442522
GeneKCNQ2
is asnp
is mentioned by
dbSNPrs1057516091
dbSNP (old)rs1057516091
ClinGenrs1057516091
ebirs1057516091
HLIrs1057516091
Exacrs1057516091
Gnomadrs1057516091
Varsomers1057516091
Maprs1057516091
PheGenIrs1057516091
Biobankrs1057516091
1000 genomesrs1057516091
hgdprs1057516091
ensemblrs1057516091
gopubmedrs1057516091
geneviewrs1057516091
scholarrs1057516091
googlers1057516091
pharmgkbrs1057516091
gwascentralrs1057516091
openSNPrs1057516091
23andMers1057516091
23andMe allrs1057516091
SNPshotrs1057516091
SNPdbers1057516091
MSV3drs1057516091
GWAS Ctlgrs1057516091
Max Magnitude0
ClinVar
Risk rs1057516091(C;C)
Alt rs1057516091(C;C)
Reference Rs1057516091(A;A)
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.62073875T>G
CLNSRC
CLNACC RCV000408689.1,