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rs1057516082

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516082(C;C)
Make rs1057516082(C;G)
ReferenceGRCh38.p7 38.3/150
Chromosome20
Position63444826
GeneKCNQ2
is asnp
is mentioned by
dbSNPrs1057516082
dbSNP (old)rs1057516082
ClinGenrs1057516082
ebirs1057516082
HLIrs1057516082
Exacrs1057516082
Gnomadrs1057516082
Varsomers1057516082
Maprs1057516082
PheGenIrs1057516082
Biobankrs1057516082
1000 genomesrs1057516082
hgdprs1057516082
ensemblrs1057516082
gopubmedrs1057516082
geneviewrs1057516082
scholarrs1057516082
googlers1057516082
pharmgkbrs1057516082
gwascentralrs1057516082
openSNPrs1057516082
23andMers1057516082
23andMe allrs1057516082
SNPshotrs1057516082
SNPdbers1057516082
MSV3drs1057516082
GWAS Ctlgrs1057516082
Max Magnitude0
ClinVar
Risk rs1057516082(C;C)
Alt rs1057516082(C;C)
Reference Rs1057516082(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.62076179C>G
CLNSRC
CLNACC RCV000408665.1,