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rs1057516098

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516098(A;A)
Make rs1057516098(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome20
Position63439657
GeneKCNQ2
is asnp
is mentioned by
dbSNPrs1057516098
dbSNP (old)rs1057516098
ClinGenrs1057516098
ebirs1057516098
HLIrs1057516098
Exacrs1057516098
Gnomadrs1057516098
Varsomers1057516098
Maprs1057516098
PheGenIrs1057516098
Biobankrs1057516098
1000 genomesrs1057516098
hgdprs1057516098
ensemblrs1057516098
gopubmedrs1057516098
geneviewrs1057516098
scholarrs1057516098
googlers1057516098
pharmgkbrs1057516098
gwascentralrs1057516098
openSNPrs1057516098
23andMers1057516098
23andMe allrs1057516098
SNPshotrs1057516098
SNPdbers1057516098
MSV3drs1057516098
GWAS Ctlgrs1057516098
Max Magnitude0
ClinVar
Risk rs1057516098(A;A)
Alt rs1057516098(A;A)
Reference Rs1057516098(G;G)
Significance Pathogenic
Disease Early infantile epileptic encephalopathy 7 Early infantile epileptic encephalopathy
Variation info
Gene KCNQ2
CLNDBN Early infantile epileptic encephalopathy 7 Early infantile epileptic encephalopathy
Reversed 1
HGVS NC_000020.10:g.62071010C>T
CLNSRC
CLNACC RCV000408671.1, RCV000466204.1,