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rs1057516079

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516079(A;A)
Make rs1057516079(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome20
Position63445281
GeneKCNQ2, LOC105372720
is asnp
is mentioned by
dbSNPrs1057516079
dbSNP (old)rs1057516079
ClinGenrs1057516079
ebirs1057516079
HLIrs1057516079
Exacrs1057516079
Gnomadrs1057516079
Varsomers1057516079
Maprs1057516079
PheGenIrs1057516079
Biobankrs1057516079
1000 genomesrs1057516079
hgdprs1057516079
ensemblrs1057516079
gopubmedrs1057516079
geneviewrs1057516079
scholarrs1057516079
googlers1057516079
pharmgkbrs1057516079
gwascentralrs1057516079
openSNPrs1057516079
23andMers1057516079
23andMe allrs1057516079
SNPshotrs1057516079
SNPdbers1057516079
MSV3drs1057516079
GWAS Ctlgrs1057516079
Max Magnitude0
ClinVar
Risk rs1057516079(A;A)
Alt rs1057516079(A;A)
Reference Rs1057516079(G;G)
Significance Pathogenic
Disease Early infantile epileptic encephalopathy 7
Variation info
Gene KCNQ2
CLNDBN Early infantile epileptic encephalopathy 7
Reversed 1
HGVS NC_000020.10:g.62076634C>T
CLNSRC
CLNACC RCV000408724.1,