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rs1057516081

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516081(A;A)
Make rs1057516081(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome20
Position63445276
GeneKCNQ2, LOC105372720
is asnp
is mentioned by
dbSNPrs1057516081
dbSNP (old)rs1057516081
ClinGenrs1057516081
ebirs1057516081
HLIrs1057516081
Exacrs1057516081
Gnomadrs1057516081
Varsomers1057516081
LitVarrs1057516081
Maprs1057516081
PheGenIrs1057516081
Biobankrs1057516081
1000 genomesrs1057516081
hgdprs1057516081
ensemblrs1057516081
gopubmedrs1057516081
geneviewrs1057516081
scholarrs1057516081
googlers1057516081
pharmgkbrs1057516081
gwascentralrs1057516081
openSNPrs1057516081
23andMers1057516081
23andMe allrs1057516081
SNPshotrs1057516081
SNPdbers1057516081
MSV3drs1057516081
GWAS Ctlgrs1057516081
Max Magnitude0
ClinVar
Risk rs1057516081(A;A)
Alt rs1057516081(A;A)
Reference Rs1057516081(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.62076629C>T
CLNSRC
CLNACC RCV000408723.1,