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rs1057516087

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057516087(A;G)
Make rs1057516087(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome20
Position63444736
GeneKCNQ2
is asnp
is mentioned by
dbSNPrs1057516087
dbSNP (old)rs1057516087
ClinGenrs1057516087
ebirs1057516087
HLIrs1057516087
Exacrs1057516087
Gnomadrs1057516087
Varsomers1057516087
Maprs1057516087
PheGenIrs1057516087
Biobankrs1057516087
1000 genomesrs1057516087
hgdprs1057516087
ensemblrs1057516087
gopubmedrs1057516087
geneviewrs1057516087
scholarrs1057516087
googlers1057516087
pharmgkbrs1057516087
gwascentralrs1057516087
openSNPrs1057516087
23andMers1057516087
23andMe allrs1057516087
SNPshotrs1057516087
SNPdbers1057516087
MSV3drs1057516087
GWAS Ctlgrs1057516087
Max Magnitude0
ClinVar
Risk rs1057516087(G;G)
Alt rs1057516087(G;G)
Reference Rs1057516087(A;A)
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.62076089T>C
CLNSRC
CLNACC RCV000408672.1,