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rs1057516083

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516083(G;T)
Make rs1057516083(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome20
Position63444783
GeneKCNQ2
is asnp
is mentioned by
dbSNPrs1057516083
dbSNP (old)rs1057516083
ClinGenrs1057516083
ebirs1057516083
HLIrs1057516083
Exacrs1057516083
Gnomadrs1057516083
Varsomers1057516083
Maprs1057516083
PheGenIrs1057516083
Biobankrs1057516083
1000 genomesrs1057516083
hgdprs1057516083
ensemblrs1057516083
gopubmedrs1057516083
geneviewrs1057516083
scholarrs1057516083
googlers1057516083
pharmgkbrs1057516083
gwascentralrs1057516083
openSNPrs1057516083
23andMers1057516083
23andMe allrs1057516083
SNPshotrs1057516083
SNPdbers1057516083
MSV3drs1057516083
GWAS Ctlgrs1057516083
Max Magnitude0
ClinVar
Risk rs1057516083(T;T)
Alt rs1057516083(T;T)
Reference Rs1057516083(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.62076136C>A
CLNSRC
CLNACC RCV000408659.1,