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rs1057516100

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057516100(C;C)
Make rs1057516100(C;T)
ReferenceGRCh38.p7 38.3/150
Chromosome20
Position63439614
GeneKCNQ2
is asnp
is mentioned by
dbSNPrs1057516100
dbSNP (old)rs1057516100
ClinGenrs1057516100
ebirs1057516100
HLIrs1057516100
Exacrs1057516100
Gnomadrs1057516100
Varsomers1057516100
LitVarrs1057516100
Maprs1057516100
PheGenIrs1057516100
Biobankrs1057516100
1000 genomesrs1057516100
hgdprs1057516100
ensemblrs1057516100
gopubmedrs1057516100
geneviewrs1057516100
scholarrs1057516100
googlers1057516100
pharmgkbrs1057516100
gwascentralrs1057516100
openSNPrs1057516100
23andMers1057516100
23andMe allrs1057516100
SNPshotrs1057516100
SNPdbers1057516100
MSV3drs1057516100
GWAS Ctlgrs1057516100
Max Magnitude0
ClinVar
Risk rs1057516100(C;C)
Alt rs1057516100(C;C)
Reference Rs1057516100(T;T)
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.62070967A>G
CLNSRC
CLNACC RCV000408750.1,