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rs139164500

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs139164500(A;A)
Make rs139164500(A;G)
ReferenceGRCh38.p7 38.3/149
Chromosome20
Position63419661
GeneKCNQ2
is asnp
is mentioned by
dbSNPrs139164500
dbSNP (old)rs139164500
ClinGenrs139164500
ebirs139164500
HLIrs139164500
Exacrs139164500
Gnomadrs139164500
Varsomers139164500
LitVarrs139164500
Maprs139164500
PheGenIrs139164500
Biobankrs139164500
1000 genomesrs139164500
hgdprs139164500
ensemblrs139164500
gopubmedrs139164500
geneviewrs139164500
scholarrs139164500
googlers139164500
pharmgkbrs139164500
gwascentralrs139164500
openSNPrs139164500
23andMers139164500
23andMe allrs139164500
SNPshotrs139164500
SNPdbers139164500
MSV3drs139164500
GWAS Ctlgrs139164500
Max Magnitude0
ClinVar
Risk rs139164500(A;A) rs139164500(C;C) rs139164500(T;T)
Alt rs139164500(A;A) rs139164500(C;C) rs139164500(T;T)
Reference Rs139164500(G;G)
Significance Pathogenic
Disease not specified Early infantile epileptic encephalopathy 7
Variation info
Gene KCNQ2
CLNDBN not specified Early infantile epileptic encephalopathy 7
Reversed 0
HGVS NC_000020.10:g.62051014G>A; NC_000020.10:g.62051014G>C
CLNSRC
CLNACC RCV000278824.1, RCV000408666.1, RCV000187900.2,