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rs121909674

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121909674(C;T)
Make rs121909674(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position162153132
GeneGABRG2
is asnp
is mentioned by
dbSNPrs121909674
dbSNP (classic)rs121909674
ClinGenrs121909674
ebirs121909674
HLIrs121909674
Exacrs121909674
Gnomadrs121909674
Varsomers121909674
LitVarrs121909674
Maprs121909674
PheGenIrs121909674
Biobankrs121909674
1000 genomesrs121909674
hgdprs121909674
ensemblrs121909674
geneviewrs121909674
scholarrs121909674
googlers121909674
pharmgkbrs121909674
gwascentralrs121909674
openSNPrs121909674
23andMers121909674
SNPshotrs121909674
SNPdbers121909674
MSV3drs121909674
GWAS Ctlgrs121909674
Max Magnitude0
OMIM137164
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121909674(T;T)
Alt rs121909674(T;T)
Reference Rs121909674(C;C)
Significance Pathogenic
Disease Generalized epilepsy with febrile seizures plus 3
Variation info
Gene GABRG2
CLNDBN Generalized epilepsy with febrile seizures plus 3
Reversed 0
HGVS NC_000005.9:g.161580138C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000017594.28,