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rs1057516107

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516107(C;T)
Make rs1057516107(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome20
Position63433874
GeneKCNQ2, LOC105372721
is asnp
is mentioned by
dbSNPrs1057516107
dbSNP (old)rs1057516107
ClinGenrs1057516107
ebirs1057516107
HLIrs1057516107
Exacrs1057516107
Gnomadrs1057516107
Varsomers1057516107
Maprs1057516107
PheGenIrs1057516107
Biobankrs1057516107
1000 genomesrs1057516107
hgdprs1057516107
ensemblrs1057516107
gopubmedrs1057516107
geneviewrs1057516107
scholarrs1057516107
googlers1057516107
pharmgkbrs1057516107
gwascentralrs1057516107
openSNPrs1057516107
23andMers1057516107
23andMe allrs1057516107
SNPshotrs1057516107
SNPdbers1057516107
MSV3drs1057516107
GWAS Ctlgrs1057516107
Max Magnitude0
ClinVar
Risk rs1057516107(T;T)
Alt rs1057516107(T;T)
Reference Rs1057516107(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.62065227G>A
CLNSRC
CLNACC RCV000408660.1,