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rs1057516116

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057516116(A;C)
Make rs1057516116(C;C)
ReferenceGRCh38.p7 38.3/150
Chromosome20
Position63415046
GeneKCNQ2
is asnp
is mentioned by
dbSNPrs1057516116
dbSNP (old)rs1057516116
ClinGenrs1057516116
ebirs1057516116
HLIrs1057516116
Exacrs1057516116
Gnomadrs1057516116
Varsomers1057516116
Maprs1057516116
PheGenIrs1057516116
Biobankrs1057516116
1000 genomesrs1057516116
hgdprs1057516116
ensemblrs1057516116
gopubmedrs1057516116
geneviewrs1057516116
scholarrs1057516116
googlers1057516116
pharmgkbrs1057516116
gwascentralrs1057516116
openSNPrs1057516116
23andMers1057516116
23andMe allrs1057516116
SNPshotrs1057516116
SNPdbers1057516116
MSV3drs1057516116
GWAS Ctlgrs1057516116
Max Magnitude0
ClinVar
Risk rs1057516116(C;C)
Alt rs1057516116(C;C)
Reference Rs1057516116(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.62046399T>G
CLNSRC
CLNACC RCV000408727.1,