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rs1060499544

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CCG;CCG) 0 common in clinvar
Make rs1060499544(-;-)
Make rs1060499544(-;CCG)
ReferenceGRCh38.p7 38.3/150
Chromosome20
Position63424191
GeneKCNQ2
is asnp
is mentioned by
dbSNPrs1060499544
dbSNP (old)rs1060499544
ClinGenrs1060499544
ebirs1060499544
HLIrs1060499544
Exacrs1060499544
Gnomadrs1060499544
Varsomers1060499544
Maprs1060499544
PheGenIrs1060499544
Biobankrs1060499544
1000 genomesrs1060499544
hgdprs1060499544
ensemblrs1060499544
gopubmedrs1060499544
geneviewrs1060499544
scholarrs1060499544
googlers1060499544
pharmgkbrs1060499544
gwascentralrs1060499544
openSNPrs1060499544
23andMers1060499544
23andMe allrs1060499544
SNPshotrs1060499544
SNPdbers1060499544
MSV3drs1060499544
GWAS Ctlgrs1060499544
Max Magnitude0
ClinVar
Risk rs1060499544(-;-)
Alt rs1060499544(-;-)
Reference Rs1060499544(CCG;CCG)
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.62055544_62055546delCGG
CLNSRC
CLNACC RCV000408743.1,