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rs1057516076

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057516076(A;G)
Make rs1057516076(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome20
Position63446794
GeneKCNQ2, LOC105372720
is asnp
is mentioned by
dbSNPrs1057516076
dbSNP (old)rs1057516076
ClinGenrs1057516076
ebirs1057516076
HLIrs1057516076
Exacrs1057516076
Gnomadrs1057516076
Varsomers1057516076
LitVarrs1057516076
Maprs1057516076
PheGenIrs1057516076
Biobankrs1057516076
1000 genomesrs1057516076
hgdprs1057516076
ensemblrs1057516076
gopubmedrs1057516076
geneviewrs1057516076
scholarrs1057516076
googlers1057516076
pharmgkbrs1057516076
gwascentralrs1057516076
openSNPrs1057516076
23andMers1057516076
23andMe allrs1057516076
SNPshotrs1057516076
SNPdbers1057516076
MSV3drs1057516076
GWAS Ctlgrs1057516076
Max Magnitude0
ClinVar
Risk rs1057516076(G;G)
Alt rs1057516076(G;G)
Reference Rs1057516076(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.62078147T>C
CLNSRC
CLNACC RCV000408687.1,