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rs1057516115

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516115(A;A)
Make rs1057516115(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome20
Position63424176
GeneKCNQ2
is asnp
is mentioned by
dbSNPrs1057516115
dbSNP (old)rs1057516115
ClinGenrs1057516115
ebirs1057516115
HLIrs1057516115
Exacrs1057516115
Gnomadrs1057516115
Varsomers1057516115
Maprs1057516115
PheGenIrs1057516115
Biobankrs1057516115
1000 genomesrs1057516115
hgdprs1057516115
ensemblrs1057516115
gopubmedrs1057516115
geneviewrs1057516115
scholarrs1057516115
googlers1057516115
pharmgkbrs1057516115
gwascentralrs1057516115
openSNPrs1057516115
23andMers1057516115
23andMe allrs1057516115
SNPshotrs1057516115
SNPdbers1057516115
MSV3drs1057516115
GWAS Ctlgrs1057516115
Max Magnitude0
ClinVar
Risk rs1057516115(A;A)
Alt rs1057516115(A;A)
Reference Rs1057516115(G;G)
Significance Pathogenic
Disease Benign familial neonatal seizures 1
Variation info
Gene KCNQ2
CLNDBN Benign familial neonatal seizures 1
Reversed 1
HGVS NC_000020.10:g.62055529C>T
CLNSRC
CLNACC RCV000408685.1,