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rs1057516085

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516085(A;A)
Make rs1057516085(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome20
Position63444747
GeneKCNQ2
is asnp
is mentioned by
dbSNPrs1057516085
dbSNP (old)rs1057516085
ClinGenrs1057516085
ebirs1057516085
HLIrs1057516085
Exacrs1057516085
Gnomadrs1057516085
Varsomers1057516085
Maprs1057516085
PheGenIrs1057516085
Biobankrs1057516085
1000 genomesrs1057516085
hgdprs1057516085
ensemblrs1057516085
gopubmedrs1057516085
geneviewrs1057516085
scholarrs1057516085
googlers1057516085
pharmgkbrs1057516085
gwascentralrs1057516085
openSNPrs1057516085
23andMers1057516085
23andMe allrs1057516085
SNPshotrs1057516085
SNPdbers1057516085
MSV3drs1057516085
GWAS Ctlgrs1057516085
Max Magnitude0
ClinVar
Risk rs1057516085(A;A)
Alt rs1057516085(A;A)
Reference Rs1057516085(G;G)
Significance Pathogenic
Disease Early infantile epileptic encephalopathy 7 Severe intellectual deficiency
Variation info
Gene KCNQ2
CLNDBN Early infantile epileptic encephalopathy 7 Severe intellectual deficiency
Reversed 1
HGVS NC_000020.10:g.62076100C>T
CLNSRC
CLNACC RCV000408699.1, RCV000415385.1,