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rs281865068

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs281865068(A;A)
Make rs281865068(A;G)
ReferenceGRCh38 38.1/141
Chromosome20
Position63350404
GeneCHRNA4
is asnp
is mentioned by
dbSNPrs281865068
dbSNP (classic)rs281865068
ClinGenrs281865068
ebirs281865068
HLIrs281865068
Exacrs281865068
Gnomadrs281865068
Varsomers281865068
LitVarrs281865068
Maprs281865068
PheGenIrs281865068
Biobankrs281865068
1000 genomesrs281865068
hgdprs281865068
ensemblrs281865068
geneviewrs281865068
scholarrs281865068
googlers281865068
pharmgkbrs281865068
gwascentralrs281865068
openSNPrs281865068
23andMers281865068
SNPshotrs281865068
SNPdbers281865068
MSV3drs281865068
GWAS Ctlgrs281865068
Max Magnitude0
ClinVar
Risk rs281865068(A;A)
Alt rs281865068(A;A)
Reference Rs281865068(G;G)
Significance Pathogenic
Disease Epilepsy Autosomal dominant nocturnal frontal lobe epilepsy
Variation info
Gene CHRNA4
CLNDBN Epilepsy, nocturnal frontal lobe, type 1 Autosomal dominant nocturnal frontal lobe epilepsy
Reversed 1
HGVS NC_000020.10:g.61981756C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000033926.2, RCV000462397.1,