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rs1057516102

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516102(C;C)
Make rs1057516102(C;G)
ReferenceGRCh38.p7 38.3/150
Chromosome20
Position63438721
GeneKCNQ2
is asnp
is mentioned by
dbSNPrs1057516102
dbSNP (classic)rs1057516102
ClinGenrs1057516102
ebirs1057516102
HLIrs1057516102
Exacrs1057516102
Gnomadrs1057516102
Varsomers1057516102
LitVarrs1057516102
Maprs1057516102
PheGenIrs1057516102
Biobankrs1057516102
1000 genomesrs1057516102
hgdprs1057516102
ensemblrs1057516102
geneviewrs1057516102
scholarrs1057516102
googlers1057516102
pharmgkbrs1057516102
gwascentralrs1057516102
openSNPrs1057516102
23andMers1057516102
23andMe allrs1057516102
SNPshotrs1057516102
SNPdbers1057516102
MSV3drs1057516102
GWAS Ctlgrs1057516102
Max Magnitude0
ClinVar
Risk rs1057516102(C;C)
Alt rs1057516102(C;C)
Reference Rs1057516102(G;G)
Significance Pathogenic
Disease Benign familial neonatal seizures 1
Variation info
Gene KCNQ2
CLNDBN Benign familial neonatal seizures 1
Reversed 1
HGVS NC_000020.10:g.62070074C>G
CLNSRC
CLNACC RCV000408680.1,