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rs74315391

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs74315391(C;T)
Make rs74315391(T;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position63444730
GeneKCNQ2
is asnp
is mentioned by
dbSNPrs74315391
ebirs74315391
HLIrs74315391
Exacrs74315391
Varsomers74315391
Maprs74315391
PheGenIrs74315391
hapmaprs74315391
1000 genomesrs74315391
hgdprs74315391
ensemblrs74315391
gopubmedrs74315391
geneviewrs74315391
scholarrs74315391
googlers74315391
pharmgkbrs74315391
gwascentralrs74315391
openSNPrs74315391
23andMers74315391
23andMe allrs74315391
SNP Nexus

SNPshotrs74315391
SNPdbers74315391
MSV3drs74315391
GWAS Ctlgrs74315391
GMAF0.0
Max Magnitude0
OMIM602235
Desc
Variant0006
Relatedalso
ClinVar
Risk rs74315391(T;T)
Alt rs74315391(T;T)
Reference rs74315391(C;C)
Significance Pathogenic
Disease Seizures Benign familial neonatal seizures 1 not provided
Variation info
Gene KCNQ2
CLNDBN Seizures, benign familial neonatal, 1, and/or myokymia Benign familial neonatal seizures 1 not provided
Reversed 1
HGVS NC_000020.10:g.62076083G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000007811.2, RCV000021001.1, RCV000187862.1,