Have data from 23andMe or Ancestry? Make a report automatically with Promethease !

rs1057516122

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057516122(A;C)
Make rs1057516122(C;C)
ReferenceGRCh38.p7 38.3/150
Chromosome20
Position63413558
GeneKCNQ2, LOC105372724
is asnp
is mentioned by
dbSNPrs1057516122
dbSNP (old)rs1057516122
ClinGenrs1057516122
ebirs1057516122
HLIrs1057516122
Exacrs1057516122
Gnomadrs1057516122
Varsomers1057516122
Maprs1057516122
PheGenIrs1057516122
Biobankrs1057516122
1000 genomesrs1057516122
hgdprs1057516122
ensemblrs1057516122
gopubmedrs1057516122
geneviewrs1057516122
scholarrs1057516122
googlers1057516122
pharmgkbrs1057516122
gwascentralrs1057516122
openSNPrs1057516122
23andMers1057516122
23andMe allrs1057516122
SNPshotrs1057516122
SNPdbers1057516122
MSV3drs1057516122
GWAS Ctlgrs1057516122
Max Magnitude0
ClinVar
Risk rs1057516122(C;C)
Alt rs1057516122(C;C)
Reference Rs1057516122(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.62044911T>G
CLNSRC
CLNACC RCV000408742.1,