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rs74315392

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs74315392(C;G)
Make rs74315392(G;G)
ReferenceGRCh38 38.1/141
Chromosome20
Position63442482
GeneKCNQ2
is asnp
is mentioned by
dbSNPrs74315392
ebirs74315392
HLIrs74315392
Exacrs74315392
Varsomers74315392
Maprs74315392
PheGenIrs74315392
hapmaprs74315392
1000 genomesrs74315392
hgdprs74315392
ensemblrs74315392
gopubmedrs74315392
geneviewrs74315392
scholarrs74315392
googlers74315392
pharmgkbrs74315392
gwascentralrs74315392
openSNPrs74315392
23andMers74315392
23andMe allrs74315392
SNP Nexus

SNPshotrs74315392
SNPdbers74315392
MSV3drs74315392
GWAS Ctlgrs74315392
Max Magnitude0
OMIM602235
Desc
Variant0008
Relatedalso
ClinVar
Risk rs74315392(A,G;A,G)
Alt rs74315392(A,G;A,G)
Reference rs74315392(C;C)
Significance Pathogenic
Disease not provided Early infantile epileptic encephalopathy 7 Benign familial neonatal seizures 1
Variation info
Gene KCNQ2
CLNDBN not provided Early infantile epileptic encephalopathy 7 Benign familial neonatal seizures 1
Reversed 1
HGVS NC_000020.10:g.62073835G>A; NC_000020.10:g.62073835G>C; NC_000020.10:g.62073835G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000187872.2, RCV000030664.2, RCV000030675.1, RCV000021009.1,