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rs28931591

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0
Make rs28931591(C;T)
Make rs28931591(T;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position63350560
GeneCHRNA4
is asnp
is mentioned by
dbSNPrs28931591
ebirs28931591
HLIrs28931591
Exacrs28931591
Varsomers28931591
Maprs28931591
PheGenIrs28931591
hapmaprs28931591
1000 genomesrs28931591
hgdprs28931591
ensemblrs28931591
gopubmedrs28931591
geneviewrs28931591
scholarrs28931591
googlers28931591
pharmgkbrs28931591
gwascentralrs28931591
openSNPrs28931591
23andMers28931591
23andMe allrs28931591
SNP Nexus

SNPshotrs28931591
SNPdbers28931591
MSV3drs28931591
GWAS Ctlgrs28931591
Max Magnitude0
OMIM118504
DescEPILEPSY, NOCTURNAL FRONTAL LOBE, TYPE 1
Variant0004
Relatedalso
Neighborrs1044396
Distance778


ClinVar
Risk rs28931591(T;T)
Alt rs28931591(T;T)
Reference rs28931591(C;C)
Significance Pathogenic
Disease Epilepsy not provided
Variation info
Gene CHRNA4
CLNDBN Epilepsy, nocturnal frontal lobe, type 1 not provided
Reversed 1
HGVS NC_000020.10:g.61981912G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000019052.28, RCV000186931.1,