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rs1057516109

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516109(C;G)
Make rs1057516109(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome20
Position63433861
GeneKCNQ2, LOC105372721
is asnp
is mentioned by
dbSNPrs1057516109
dbSNP (old)rs1057516109
ClinGenrs1057516109
ebirs1057516109
HLIrs1057516109
Exacrs1057516109
Gnomadrs1057516109
Varsomers1057516109
Maprs1057516109
PheGenIrs1057516109
Biobankrs1057516109
1000 genomesrs1057516109
hgdprs1057516109
ensemblrs1057516109
gopubmedrs1057516109
geneviewrs1057516109
scholarrs1057516109
googlers1057516109
pharmgkbrs1057516109
gwascentralrs1057516109
openSNPrs1057516109
23andMers1057516109
23andMe allrs1057516109
SNPshotrs1057516109
SNPdbers1057516109
MSV3drs1057516109
GWAS Ctlgrs1057516109
Max Magnitude0
ClinVar
Risk rs1057516109(G;G)
Alt rs1057516109(G;G)
Reference Rs1057516109(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.62065214G>C
CLNSRC
CLNACC RCV000408676.1,