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rs74315390

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs74315390(A;A)
Make rs74315390(A;G)
ReferenceGRCh38 38.1/141
Chromosome20
Position63439609
GeneKCNQ2
is asnp
is mentioned by
dbSNPrs74315390
dbSNP (classic)rs74315390
ClinGenrs74315390
ebirs74315390
HLIrs74315390
Exacrs74315390
Gnomadrs74315390
Varsomers74315390
LitVarrs74315390
Maprs74315390
PheGenIrs74315390
Biobankrs74315390
1000 genomesrs74315390
hgdprs74315390
ensemblrs74315390
geneviewrs74315390
scholarrs74315390
googlers74315390
pharmgkbrs74315390
gwascentralrs74315390
openSNPrs74315390
23andMers74315390
SNPshotrs74315390
SNPdbers74315390
MSV3drs74315390
GWAS Ctlgrs74315390
Max Magnitude0
OMIM602235
Desc
Variant0002
Relatedalso
ClinVar
Risk rs74315390(A;A) rs74315390(C;C)
Alt rs74315390(A;A) rs74315390(C;C)
Reference Rs74315390(G;G)
Significance Pathogenic
Disease not provided Benign familial neonatal seizures 1
Variation info
Gene KCNQ2
CLNDBN not provided Benign familial neonatal seizures 1
Reversed 1
HGVS NC_000020.10:g.62070962C>G; NC_000020.10:g.62070962C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000187885.2, RCV000007807.3,