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rs1057516123

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057516123(A;G)
Make rs1057516123(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome20
Position63413481
GeneKCNQ2, LOC105372724
is asnp
is mentioned by
dbSNPrs1057516123
dbSNP (old)rs1057516123
ClinGenrs1057516123
ebirs1057516123
HLIrs1057516123
Exacrs1057516123
Gnomadrs1057516123
Varsomers1057516123
Maprs1057516123
PheGenIrs1057516123
Biobankrs1057516123
1000 genomesrs1057516123
hgdprs1057516123
ensemblrs1057516123
gopubmedrs1057516123
geneviewrs1057516123
scholarrs1057516123
googlers1057516123
pharmgkbrs1057516123
gwascentralrs1057516123
openSNPrs1057516123
23andMers1057516123
23andMe allrs1057516123
SNPshotrs1057516123
SNPdbers1057516123
MSV3drs1057516123
GWAS Ctlgrs1057516123
Max Magnitude0
ClinVar
Risk rs1057516123(G;G)
Alt rs1057516123(G;G)
Reference Rs1057516123(A;A)
Significance Pathogenic
Disease Benign familial neonatal seizures 1 not provided
Variation info
Gene KCNQ2
CLNDBN Benign familial neonatal seizures 1 not provided
Reversed 1
HGVS NC_000020.10:g.62044834T>C
CLNSRC
CLNACC RCV000408658.1, RCV000480958.1,