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rs1057516093

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516093(A;A)
Make rs1057516093(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome20
Position63442465
GeneKCNQ2
is asnp
is mentioned by
dbSNPrs1057516093
dbSNP (old)rs1057516093
ClinGenrs1057516093
ebirs1057516093
HLIrs1057516093
Exacrs1057516093
Gnomadrs1057516093
Varsomers1057516093
Maprs1057516093
PheGenIrs1057516093
Biobankrs1057516093
1000 genomesrs1057516093
hgdprs1057516093
ensemblrs1057516093
gopubmedrs1057516093
geneviewrs1057516093
scholarrs1057516093
googlers1057516093
pharmgkbrs1057516093
gwascentralrs1057516093
openSNPrs1057516093
23andMers1057516093
23andMe allrs1057516093
SNPshotrs1057516093
SNPdbers1057516093
MSV3drs1057516093
GWAS Ctlgrs1057516093
Max Magnitude0
ClinVar
Risk rs1057516093(A;A)
Alt rs1057516093(A;A)
Reference Rs1057516093(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.62073818C>T
CLNSRC
CLNACC RCV000408751.1,