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rs121909672

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121909672(A;T)
Make rs121909672(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position162149168
GeneGABRG2
is asnp
is mentioned by
dbSNPrs121909672
dbSNP (classic)rs121909672
ClinGenrs121909672
ebirs121909672
HLIrs121909672
Exacrs121909672
Gnomadrs121909672
Varsomers121909672
LitVarrs121909672
Maprs121909672
PheGenIrs121909672
Biobankrs121909672
1000 genomesrs121909672
hgdprs121909672
ensemblrs121909672
geneviewrs121909672
scholarrs121909672
googlers121909672
pharmgkbrs121909672
gwascentralrs121909672
openSNPrs121909672
23andMers121909672
SNPshotrs121909672
SNPdbers121909672
MSV3drs121909672
GWAS Ctlgrs121909672
Max Magnitude0
OMIM137164
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121909672(T;T)
Alt rs121909672(T;T)
Reference Rs121909672(A;A)
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.161576174A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000017591.24,