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rs74315291

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs74315291(C;C)
Make rs74315291(C;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position154571682
GeneCHRNB2
is asnp
is mentioned by
dbSNPrs74315291
dbSNP (classic)rs74315291
ClinGenrs74315291
ebirs74315291
HLIrs74315291
Exacrs74315291
Gnomadrs74315291
Varsomers74315291
LitVarrs74315291
Maprs74315291
PheGenIrs74315291
Biobankrs74315291
1000 genomesrs74315291
hgdprs74315291
ensemblrs74315291
geneviewrs74315291
scholarrs74315291
googlers74315291
pharmgkbrs74315291
gwascentralrs74315291
openSNPrs74315291
23andMers74315291
SNPshotrs74315291
SNPdbers74315291
MSV3drs74315291
GWAS Ctlgrs74315291
Max Magnitude0
OMIM118507
Desc
Variant0001
Relatedalso
OMIM118507
Desc
Variant0002
Relatedalso
ClinVar
Risk rs74315291(A;A) rs74315291(C;C) rs74315291(T;T)
Alt rs74315291(A;A) rs74315291(C;C) rs74315291(T;T)
Reference Rs74315291(G;G)
Significance Pathogenic
Disease Epilepsy
Variation info
Gene CHRNB2
CLNDBN Epilepsy, nocturnal frontal lobe, type 3
Reversed 0
HGVS NC_000001.10:g.154544158G>A; NC_000001.10:g.154544158G>C; NC_000001.10:g.154544158G>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000019048.28, RCV000019047.28, RCV000033930.2,