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rs1057516095

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516095(C;T)
Make rs1057516095(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome20
Position63439698
GeneKCNQ2
is asnp
is mentioned by
dbSNPrs1057516095
dbSNP (old)rs1057516095
ClinGenrs1057516095
ebirs1057516095
HLIrs1057516095
Exacrs1057516095
Gnomadrs1057516095
Varsomers1057516095
Maprs1057516095
PheGenIrs1057516095
Biobankrs1057516095
1000 genomesrs1057516095
hgdprs1057516095
ensemblrs1057516095
gopubmedrs1057516095
geneviewrs1057516095
scholarrs1057516095
googlers1057516095
pharmgkbrs1057516095
gwascentralrs1057516095
openSNPrs1057516095
23andMers1057516095
23andMe allrs1057516095
SNPshotrs1057516095
SNPdbers1057516095
MSV3drs1057516095
GWAS Ctlgrs1057516095
Max Magnitude0
ClinVar
Risk rs1057516095(T;T)
Alt rs1057516095(T;T)
Reference Rs1057516095(C;C)
Significance Pathogenic
Disease Early infantile epileptic encephalopathy 7 not provided
Variation info
Gene KCNQ2
CLNDBN Early infantile epileptic encephalopathy 7 not provided
Reversed 1
HGVS NC_000020.10:g.62071051G>A
CLNSRC
CLNACC RCV000408657.1, RCV000436653.1,