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rs1057516088

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516088(A;A)
Make rs1057516088(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome20
Position63444706
GeneKCNQ2
is asnp
is mentioned by
dbSNPrs1057516088
dbSNP (old)rs1057516088
ClinGenrs1057516088
ebirs1057516088
HLIrs1057516088
Exacrs1057516088
Gnomadrs1057516088
Varsomers1057516088
Maprs1057516088
PheGenIrs1057516088
Biobankrs1057516088
1000 genomesrs1057516088
hgdprs1057516088
ensemblrs1057516088
gopubmedrs1057516088
geneviewrs1057516088
scholarrs1057516088
googlers1057516088
pharmgkbrs1057516088
gwascentralrs1057516088
openSNPrs1057516088
23andMers1057516088
23andMe allrs1057516088
SNPshotrs1057516088
SNPdbers1057516088
MSV3drs1057516088
GWAS Ctlgrs1057516088
Max Magnitude0
ClinVar
Risk rs1057516088(A;A)
Alt rs1057516088(A;A)
Reference Rs1057516088(G;G)
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.62076059C>T
CLNSRC
CLNACC RCV000408667.1,