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rs1057516090

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516090(A;A)
Make rs1057516090(A;C)
ReferenceGRCh38.p7 38.3/150
Chromosome20
Position63444699
GeneKCNQ2
is asnp
is mentioned by
dbSNPrs1057516090
dbSNP (old)rs1057516090
ClinGenrs1057516090
ebirs1057516090
HLIrs1057516090
Exacrs1057516090
Gnomadrs1057516090
Varsomers1057516090
LitVarrs1057516090
Maprs1057516090
PheGenIrs1057516090
Biobankrs1057516090
1000 genomesrs1057516090
hgdprs1057516090
ensemblrs1057516090
gopubmedrs1057516090
geneviewrs1057516090
scholarrs1057516090
googlers1057516090
pharmgkbrs1057516090
gwascentralrs1057516090
openSNPrs1057516090
23andMers1057516090
23andMe allrs1057516090
SNPshotrs1057516090
SNPdbers1057516090
MSV3drs1057516090
GWAS Ctlgrs1057516090
Max Magnitude0
ClinVar
Risk rs1057516090(A;A)
Alt rs1057516090(A;A)
Reference Rs1057516090(C;C)
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.62076052G>T
CLNSRC
CLNACC RCV000408746.1,