Have questions? Visit https://www.reddit.com/r/SNPedia

rs1030017847

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
ReferenceGRCh38.p7 38.3/150
Chromosome20
Position63433874
GeneKCNQ2, LOC105372721
is asnp
is mentioned by
dbSNPrs1030017847
dbSNP (old)rs1030017847
ClinGenrs1030017847
ebirs1030017847
HLIrs1030017847
Exacrs1030017847
Gnomadrs1030017847
Varsomers1030017847
Maprs1030017847
PheGenIrs1030017847
Biobankrs1030017847
1000 genomesrs1030017847
hgdprs1030017847
ensemblrs1030017847
gopubmedrs1030017847
geneviewrs1030017847
scholarrs1030017847
googlers1030017847
pharmgkbrs1030017847
gwascentralrs1030017847
openSNPrs1030017847
23andMers1030017847
23andMe allrs1030017847
SNPshotrs1030017847
SNPdbers1030017847
MSV3drs1030017847
GWAS Ctlgrs1030017847
Max Magnitude0
ClinVar
Risk rs1030017847(A;A)
Alt rs1030017847(A;A)
Reference Rs1030017847(G;G)
Significance Pathogenic
Disease Early infantile epileptic encephalopathy 7
Variation info
Gene
CLNDBN Early infantile epileptic encephalopathy 7
Reversed 0
HGVS NC_000020.10:g.62065227G>A
CLNSRC
CLNACC RCV000408660.1,