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rs1057516080

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516080(A;A)
Make rs1057516080(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome20
Position63445277
GeneKCNQ2, LOC105372720
is asnp
is mentioned by
dbSNPrs1057516080
dbSNP (old)rs1057516080
ClinGenrs1057516080
ebirs1057516080
HLIrs1057516080
Exacrs1057516080
Gnomadrs1057516080
Varsomers1057516080
LitVarrs1057516080
Maprs1057516080
PheGenIrs1057516080
Biobankrs1057516080
1000 genomesrs1057516080
hgdprs1057516080
ensemblrs1057516080
gopubmedrs1057516080
geneviewrs1057516080
scholarrs1057516080
googlers1057516080
pharmgkbrs1057516080
gwascentralrs1057516080
openSNPrs1057516080
23andMers1057516080
23andMe allrs1057516080
SNPshotrs1057516080
SNPdbers1057516080
MSV3drs1057516080
GWAS Ctlgrs1057516080
Max Magnitude0
ClinVar
Risk rs1057516080(A;A)
Alt rs1057516080(A;A)
Reference Rs1057516080(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.62076630C>T
CLNSRC
CLNACC RCV000408691.1,