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rs1057516121

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516121(A;A)
Make rs1057516121(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome20
Position63414087
GeneKCNQ2
is asnp
is mentioned by
dbSNPrs1057516121
dbSNP (old)rs1057516121
ClinGenrs1057516121
ebirs1057516121
HLIrs1057516121
Exacrs1057516121
Gnomadrs1057516121
Varsomers1057516121
LitVarrs1057516121
Maprs1057516121
PheGenIrs1057516121
Biobankrs1057516121
1000 genomesrs1057516121
hgdprs1057516121
ensemblrs1057516121
gopubmedrs1057516121
geneviewrs1057516121
scholarrs1057516121
googlers1057516121
pharmgkbrs1057516121
gwascentralrs1057516121
openSNPrs1057516121
23andMers1057516121
23andMe allrs1057516121
SNPshotrs1057516121
SNPdbers1057516121
MSV3drs1057516121
GWAS Ctlgrs1057516121
Max Magnitude0
ClinVar
Risk rs1057516121(A;A)
Alt rs1057516121(A;A)
Reference Rs1057516121(G;G)
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.62045440C>T
CLNSRC
CLNACC RCV000408673.1, RCV000428513.1,