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rs1057516118

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516118(C;C)
Make rs1057516118(C;G)
ReferenceGRCh38.p7 38.3/150
Chromosome20
Position63414927
GeneKCNQ2
is asnp
is mentioned by
dbSNPrs1057516118
dbSNP (old)rs1057516118
ClinGenrs1057516118
ebirs1057516118
HLIrs1057516118
Exacrs1057516118
Gnomadrs1057516118
Varsomers1057516118
Maprs1057516118
PheGenIrs1057516118
Biobankrs1057516118
1000 genomesrs1057516118
hgdprs1057516118
ensemblrs1057516118
gopubmedrs1057516118
geneviewrs1057516118
scholarrs1057516118
googlers1057516118
pharmgkbrs1057516118
gwascentralrs1057516118
openSNPrs1057516118
23andMers1057516118
23andMe allrs1057516118
SNPshotrs1057516118
SNPdbers1057516118
MSV3drs1057516118
GWAS Ctlgrs1057516118
Max Magnitude0
ClinVar
Risk rs1057516118(C;C)
Alt rs1057516118(C;C)
Reference Rs1057516118(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.62046280C>G
CLNSRC
CLNACC RCV000408731.1,