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rs1057516105

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057516105(C;C)
Make rs1057516105(C;T)
ReferenceGRCh38.p7 38.3/150
Chromosome20
Position63433897
GeneKCNQ2, LOC105372721
is asnp
is mentioned by
dbSNPrs1057516105
dbSNP (old)rs1057516105
ClinGenrs1057516105
ebirs1057516105
HLIrs1057516105
Exacrs1057516105
Gnomadrs1057516105
Varsomers1057516105
Maprs1057516105
PheGenIrs1057516105
Biobankrs1057516105
1000 genomesrs1057516105
hgdprs1057516105
ensemblrs1057516105
gopubmedrs1057516105
geneviewrs1057516105
scholarrs1057516105
googlers1057516105
pharmgkbrs1057516105
gwascentralrs1057516105
openSNPrs1057516105
23andMers1057516105
23andMe allrs1057516105
SNPshotrs1057516105
SNPdbers1057516105
MSV3drs1057516105
GWAS Ctlgrs1057516105
Max Magnitude0
ClinVar
Risk rs1057516105(C;C)
Alt rs1057516105(C;C)
Reference Rs1057516105(T;T)
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.62065250A>G
CLNSRC
CLNACC RCV000408662.1,