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rs1057516096

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516096(G;T)
Make rs1057516096(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome20
Position63439690
GeneKCNQ2
is asnp
is mentioned by
dbSNPrs1057516096
dbSNP (old)rs1057516096
ClinGenrs1057516096
ebirs1057516096
HLIrs1057516096
Exacrs1057516096
Gnomadrs1057516096
Varsomers1057516096
Maprs1057516096
PheGenIrs1057516096
Biobankrs1057516096
1000 genomesrs1057516096
hgdprs1057516096
ensemblrs1057516096
gopubmedrs1057516096
geneviewrs1057516096
scholarrs1057516096
googlers1057516096
pharmgkbrs1057516096
gwascentralrs1057516096
openSNPrs1057516096
23andMers1057516096
23andMe allrs1057516096
SNPshotrs1057516096
SNPdbers1057516096
MSV3drs1057516096
GWAS Ctlgrs1057516096
Max Magnitude0
ClinVar
Risk rs1057516096(T;T)
Alt rs1057516096(T;T)
Reference Rs1057516096(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.62071043C>A
CLNSRC
CLNACC RCV000408698.1,