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rs1057516112

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057516112(A;G)
Make rs1057516112(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome20
Position63433806
GeneKCNQ2, LOC105372721
is asnp
is mentioned by
dbSNPrs1057516112
dbSNP (old)rs1057516112
ClinGenrs1057516112
ebirs1057516112
HLIrs1057516112
Exacrs1057516112
Gnomadrs1057516112
Varsomers1057516112
LitVarrs1057516112
Maprs1057516112
PheGenIrs1057516112
Biobankrs1057516112
1000 genomesrs1057516112
hgdprs1057516112
ensemblrs1057516112
gopubmedrs1057516112
geneviewrs1057516112
scholarrs1057516112
googlers1057516112
pharmgkbrs1057516112
gwascentralrs1057516112
openSNPrs1057516112
23andMers1057516112
23andMe allrs1057516112
SNPshotrs1057516112
SNPdbers1057516112
MSV3drs1057516112
GWAS Ctlgrs1057516112
Max Magnitude0
ClinVar
Risk rs1057516112(G;G)
Alt rs1057516112(G;G)
Reference Rs1057516112(A;A)
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.62065159T>C
CLNSRC
CLNACC RCV000408674.1,