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rs773171451

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs773171451(G;T)
Make rs773171451(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome20
Position63413535
GeneKCNQ2, LOC105372724
is asnp
is mentioned by
dbSNPrs773171451
dbSNP (classic)rs773171451
ClinGenrs773171451
ebirs773171451
HLIrs773171451
Exacrs773171451
Gnomadrs773171451
Varsomers773171451
LitVarrs773171451
Maprs773171451
PheGenIrs773171451
Biobankrs773171451
1000 genomesrs773171451
hgdprs773171451
ensemblrs773171451
geneviewrs773171451
scholarrs773171451
googlers773171451
pharmgkbrs773171451
gwascentralrs773171451
openSNPrs773171451
23andMers773171451
SNPshotrs773171451
SNPdbers773171451
MSV3drs773171451
GWAS Ctlgrs773171451
Max Magnitude0
ClinVar
Risk rs773171451(A;A) rs773171451(T;T)
Alt rs773171451(A;A) rs773171451(T;T)
Reference Rs773171451(G;G)
Significance Pathogenic
Disease not provided Early infantile epileptic encephalopathy 7 Early infantile epileptic encephalopathy
Variation info
Gene KCNQ2
CLNDBN not provided Early infantile epileptic encephalopathy 7 Early infantile epileptic encephalopathy
Reversed 0
HGVS NC_000020.10:g.62044888G>A
CLNSRC
CLNACC RCV000187915.2, RCV000408683.1, RCV000462637.1,