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rs587777219

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0 common in clinvar
Make rs587777219(A;A)
Make rs587777219(A;G)
ReferenceGRCh38 38.1/142
Chromosome20
Position63442428
GeneKCNQ2
is asnp
is mentioned by
dbSNPrs587777219
ebirs587777219
HLIrs587777219
Exacrs587777219
Varsomers587777219
Maprs587777219
PheGenIrs587777219
hapmaprs587777219
1000 genomesrs587777219
hgdprs587777219
ensemblrs587777219
gopubmedrs587777219
geneviewrs587777219
scholarrs587777219
googlers587777219
pharmgkbrs587777219
gwascentralrs587777219
openSNPrs587777219
23andMers587777219
23andMe allrs587777219
SNP Nexus

SNPshotrs587777219
SNPdbers587777219
MSV3drs587777219
GWAS Ctlgrs587777219
Max Magnitude0
ClinVar
Risk rs587777219(A,G;A,G)
Alt rs587777219(A,G;A,G)
Reference rs587777219(C;C)
Significance Pathogenic
Disease Early infantile epileptic encephalopathy 7 not provided
Variation info
Gene KCNQ2
CLNDBN Early infantile epileptic encephalopathy 7 not provided
Reversed 1
HGVS NC_000020.10:g.62073781G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000106299.2, RCV000187868.2,