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rs1057516120

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057516120(A;G)
Make rs1057516120(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome20
Position63414098
GeneKCNQ2
is asnp
is mentioned by
dbSNPrs1057516120
dbSNP (old)rs1057516120
ClinGenrs1057516120
ebirs1057516120
HLIrs1057516120
Exacrs1057516120
Gnomadrs1057516120
Varsomers1057516120
Maprs1057516120
PheGenIrs1057516120
Biobankrs1057516120
1000 genomesrs1057516120
hgdprs1057516120
ensemblrs1057516120
gopubmedrs1057516120
geneviewrs1057516120
scholarrs1057516120
googlers1057516120
pharmgkbrs1057516120
gwascentralrs1057516120
openSNPrs1057516120
23andMers1057516120
23andMe allrs1057516120
SNPshotrs1057516120
SNPdbers1057516120
MSV3drs1057516120
GWAS Ctlgrs1057516120
Max Magnitude0
ClinVar
Risk rs1057516120(G;G)
Alt rs1057516120(G;G)
Reference Rs1057516120(A;A)
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.62045451T>C
CLNSRC
CLNACC RCV000408730.1,