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rs1057516101

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516101(C;T)
Make rs1057516101(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome20
Position63439599
GeneKCNQ2
is asnp
is mentioned by
dbSNPrs1057516101
dbSNP (old)rs1057516101
ClinGenrs1057516101
ebirs1057516101
HLIrs1057516101
Exacrs1057516101
Gnomadrs1057516101
Varsomers1057516101
Maprs1057516101
PheGenIrs1057516101
Biobankrs1057516101
1000 genomesrs1057516101
hgdprs1057516101
ensemblrs1057516101
gopubmedrs1057516101
geneviewrs1057516101
scholarrs1057516101
googlers1057516101
pharmgkbrs1057516101
gwascentralrs1057516101
openSNPrs1057516101
23andMers1057516101
23andMe allrs1057516101
SNPshotrs1057516101
SNPdbers1057516101
MSV3drs1057516101
GWAS Ctlgrs1057516101
Max Magnitude0
ClinVar
Risk rs1057516101(T;T)
Alt rs1057516101(T;T)
Reference Rs1057516101(C;C)
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.62070952G>A
CLNSRC
CLNACC RCV000408749.1,