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rs1057516103

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057516103(A;C)
Make rs1057516103(C;C)
ReferenceGRCh38.p7 38.3/150
Chromosome20
Position63438675
GeneKCNQ2
is asnp
is mentioned by
dbSNPrs1057516103
dbSNP (old)rs1057516103
ClinGenrs1057516103
ebirs1057516103
HLIrs1057516103
Exacrs1057516103
Gnomadrs1057516103
Varsomers1057516103
Maprs1057516103
PheGenIrs1057516103
Biobankrs1057516103
1000 genomesrs1057516103
hgdprs1057516103
ensemblrs1057516103
gopubmedrs1057516103
geneviewrs1057516103
scholarrs1057516103
googlers1057516103
pharmgkbrs1057516103
gwascentralrs1057516103
openSNPrs1057516103
23andMers1057516103
23andMe allrs1057516103
SNPshotrs1057516103
SNPdbers1057516103
MSV3drs1057516103
GWAS Ctlgrs1057516103
Max Magnitude0
ClinVar
Risk rs1057516103(C;C) rs1057516103(G;G)
Alt rs1057516103(C;C) rs1057516103(G;G)
Reference Rs1057516103(A;A)
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.62070028T>C; NC_000020.10:g.62070028T>G
CLNSRC
CLNACC RCV000408686.1, RCV000408656.1,