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rs28939684

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs28939684(C;T)
Make rs28939684(T;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position63444709
GeneKCNQ2
is asnp
is mentioned by
dbSNPrs28939684
ebirs28939684
HLIrs28939684
Exacrs28939684
Varsomers28939684
Maprs28939684
PheGenIrs28939684
hapmaprs28939684
1000 genomesrs28939684
hgdprs28939684
ensemblrs28939684
gopubmedrs28939684
geneviewrs28939684
scholarrs28939684
googlers28939684
pharmgkbrs28939684
gwascentralrs28939684
openSNPrs28939684
23andMers28939684
23andMe allrs28939684
SNP Nexus

SNPshotrs28939684
SNPdbers28939684
MSV3drs28939684
GWAS Ctlgrs28939684
Max Magnitude0
OMIM602235
DescEPILEPSY, BENIGN NEONATAL, 1
Variant0005
Relatedalso
ClinVar
Risk rs28939684(T;T)
Alt rs28939684(T;T)
Reference rs28939684(C;C)
Significance Pathogenic
Disease Benign familial neonatal seizures 1 not provided
Variation info
Gene KCNQ2
CLNDBN Benign familial neonatal seizures 1 not provided
Reversed 1
HGVS NC_000020.10:g.62076062G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000007810.3, RCV000178401.1,