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rs1057516099

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516099(A;A)
Make rs1057516099(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome20
Position63439624
GeneKCNQ2
is asnp
is mentioned by
dbSNPrs1057516099
dbSNP (old)rs1057516099
ClinGenrs1057516099
ebirs1057516099
HLIrs1057516099
Exacrs1057516099
Gnomadrs1057516099
Varsomers1057516099
Maprs1057516099
PheGenIrs1057516099
Biobankrs1057516099
1000 genomesrs1057516099
hgdprs1057516099
ensemblrs1057516099
gopubmedrs1057516099
geneviewrs1057516099
scholarrs1057516099
googlers1057516099
pharmgkbrs1057516099
gwascentralrs1057516099
openSNPrs1057516099
23andMers1057516099
23andMe allrs1057516099
SNPshotrs1057516099
SNPdbers1057516099
MSV3drs1057516099
GWAS Ctlgrs1057516099
Max Magnitude0
ClinVar
Risk rs1057516099(A;A)
Alt rs1057516099(A;A)
Reference Rs1057516099(G;G)
Significance Pathogenic
Disease Early infantile epileptic encephalopathy 7 Epileptic encephalopathy
Variation info
Gene KCNQ2
CLNDBN Early infantile epileptic encephalopathy 7 Epileptic encephalopathy
Reversed 1
HGVS NC_000020.10:g.62070977C>T
CLNSRC
CLNACC RCV000408709.1, RCV000416958.1,