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rs28939683

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs28939683(A;G)
Make rs28939683(G;G)
ReferenceGRCh38 38.1/141
Chromosome20
Position63439674
GeneKCNQ2
is asnp
is mentioned by
dbSNPrs28939683
ebirs28939683
HLIrs28939683
Exacrs28939683
Varsomers28939683
Maprs28939683
PheGenIrs28939683
hapmaprs28939683
1000 genomesrs28939683
hgdprs28939683
ensemblrs28939683
gopubmedrs28939683
geneviewrs28939683
scholarrs28939683
googlers28939683
pharmgkbrs28939683
gwascentralrs28939683
openSNPrs28939683
23andMers28939683
23andMe allrs28939683
SNP Nexus

SNPshotrs28939683
SNPdbers28939683
MSV3drs28939683
GWAS Ctlgrs28939683
Max Magnitude0
OMIM602235
DescEPILEPSY, BENIGN NEONATAL, 1
Variant0001
Relatedalso


ClinVar
Risk rs28939683(G;G)
Alt rs28939683(G;G)
Reference rs28939683(A;A)
Significance Pathogenic
Disease Benign familial neonatal seizures 1
Variation info
Gene KCNQ2
CLNDBN Benign familial neonatal seizures 1
Reversed 1
HGVS NC_000020.10:g.62071027T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000007806.2,