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rs777257591

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs777257591(C;G)
Make rs777257591(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome20
Position63442447
GeneKCNQ2
is asnp
is mentioned by
dbSNPrs777257591
dbSNP (classic)rs777257591
ClinGenrs777257591
ebirs777257591
HLIrs777257591
Exacrs777257591
Gnomadrs777257591
Varsomers777257591
LitVarrs777257591
Maprs777257591
PheGenIrs777257591
Biobankrs777257591
1000 genomesrs777257591
hgdprs777257591
ensemblrs777257591
geneviewrs777257591
scholarrs777257591
googlers777257591
pharmgkbrs777257591
gwascentralrs777257591
openSNPrs777257591
23andMers777257591
SNPshotrs777257591
SNPdbers777257591
MSV3drs777257591
GWAS Ctlgrs777257591
Max Magnitude0
ClinVar
Risk rs777257591(A;A) rs777257591(G;G) rs777257591(T;T)
Alt rs777257591(A;A) rs777257591(G;G) rs777257591(T;T)
Reference Rs777257591(C;C)
Significance Pathogenic
Disease Benign familial neonatal seizures 1
Variation info
Gene KCNQ2
CLNDBN Benign familial neonatal seizures 1
Reversed 0
HGVS NC_000020.10:g.62073800C>A
CLNSRC
CLNACC RCV000203593.1,