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rs1057516104

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057516104(A;G)
Make rs1057516104(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome20
Position63433905
GeneKCNQ2, LOC105372721
is asnp
is mentioned by
dbSNPrs1057516104
dbSNP (old)rs1057516104
ClinGenrs1057516104
ebirs1057516104
HLIrs1057516104
Exacrs1057516104
Gnomadrs1057516104
Varsomers1057516104
Maprs1057516104
PheGenIrs1057516104
Biobankrs1057516104
1000 genomesrs1057516104
hgdprs1057516104
ensemblrs1057516104
gopubmedrs1057516104
geneviewrs1057516104
scholarrs1057516104
googlers1057516104
pharmgkbrs1057516104
gwascentralrs1057516104
openSNPrs1057516104
23andMers1057516104
23andMe allrs1057516104
SNPshotrs1057516104
SNPdbers1057516104
MSV3drs1057516104
GWAS Ctlgrs1057516104
Max Magnitude0
ClinVar
Risk rs1057516104(G;G)
Alt rs1057516104(G;G)
Reference Rs1057516104(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.62065258T>C
CLNSRC
CLNACC RCV000408718.1,