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rs1057519535

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057519535(G;T)
Make rs1057519535(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome20
Position63439652
GeneKCNQ2
is asnp
is mentioned by
dbSNPrs1057519535
dbSNP (classic)rs1057519535
ClinGenrs1057519535
ebirs1057519535
HLIrs1057519535
Exacrs1057519535
Gnomadrs1057519535
Varsomers1057519535
LitVarrs1057519535
Maprs1057519535
PheGenIrs1057519535
Biobankrs1057519535
1000 genomesrs1057519535
hgdprs1057519535
ensemblrs1057519535
geneviewrs1057519535
scholarrs1057519535
googlers1057519535
pharmgkbrs1057519535
gwascentralrs1057519535
openSNPrs1057519535
23andMers1057519535
23andMe allrs1057519535
SNPshotrs1057519535
SNPdbers1057519535
MSV3drs1057519535
GWAS Ctlgrs1057519535
Max Magnitude0
ClinVar
Risk rs1057519535(T;T)
Alt rs1057519535(T;T)
Reference Rs1057519535(G;G)
Significance Probable-Pathogenic
Disease Epileptic encephalopathy
Variation info
Gene KCNQ2
CLNDBN Epileptic encephalopathy
Reversed 1
HGVS NC_000020.10:g.62071005C>A
CLNSRC
CLNACC RCV000417017.1,