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rs104894063

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104894063(A;A)
Make rs104894063(A;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position27463607
GeneCHRNA2
is asnp
is mentioned by
dbSNPrs104894063
dbSNP (classic)rs104894063
ClinGenrs104894063
ebirs104894063
HLIrs104894063
Exacrs104894063
Gnomadrs104894063
Varsomers104894063
LitVarrs104894063
Maprs104894063
PheGenIrs104894063
Biobankrs104894063
1000 genomesrs104894063
hgdprs104894063
ensemblrs104894063
geneviewrs104894063
scholarrs104894063
googlers104894063
pharmgkbrs104894063
gwascentralrs104894063
openSNPrs104894063
23andMers104894063
SNPshotrs104894063
SNPdbers104894063
MSV3drs104894063
GWAS Ctlgrs104894063
Max Magnitude0
OMIM118502
Desc
Variant0001
Relatedalso
ClinVar
Risk rs104894063(A;A)
Alt rs104894063(A;A)
Reference Rs104894063(T;T)
Significance Pathogenic
Disease Epilepsy
Variation info
Gene CHRNA2
CLNDBN Epilepsy, nocturnal frontal lobe, type 4
Reversed 1
HGVS NC_000008.10:g.27321124A>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000019056.27,