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rs1060499545

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1060499545(A;A)
Make rs1060499545(A;C)
ReferenceGRCh38.p7 38.3/150
Chromosome20
Position63413478
GeneKCNQ2, LOC105372724
is asnp
is mentioned by
dbSNPrs1060499545
dbSNP (old)rs1060499545
ClinGenrs1060499545
ebirs1060499545
HLIrs1060499545
Exacrs1060499545
Gnomadrs1060499545
Varsomers1060499545
LitVarrs1060499545
Maprs1060499545
PheGenIrs1060499545
Biobankrs1060499545
1000 genomesrs1060499545
hgdprs1060499545
ensemblrs1060499545
gopubmedrs1060499545
geneviewrs1060499545
scholarrs1060499545
googlers1060499545
pharmgkbrs1060499545
gwascentralrs1060499545
openSNPrs1060499545
23andMers1060499545
23andMe allrs1060499545
SNPshotrs1060499545
SNPdbers1060499545
MSV3drs1060499545
GWAS Ctlgrs1060499545
Max Magnitude0
ClinVar
Risk rs1060499545(A;A)
Alt rs1060499545(A;A)
Reference Rs1060499545(C;C)
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.62044831G>T
CLNSRC
CLNACC RCV000408720.1,