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rs121434580

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121434580(A;C)
Make rs121434580(C;C)
ReferenceGRCh38 38.1/141
Chromosome1
Position2027636
GeneGABRD
is asnp
is mentioned by
dbSNPrs121434580
dbSNP (classic)rs121434580
ClinGenrs121434580
ebirs121434580
HLIrs121434580
Exacrs121434580
Gnomadrs121434580
Varsomers121434580
LitVarrs121434580
Maprs121434580
PheGenIrs121434580
Biobankrs121434580
1000 genomesrs121434580
hgdprs121434580
ensemblrs121434580
geneviewrs121434580
scholarrs121434580
googlers121434580
pharmgkbrs121434580
gwascentralrs121434580
openSNPrs121434580
23andMers121434580
SNPshotrs121434580
SNPdbers121434580
MSV3drs121434580
GWAS Ctlgrs121434580
Max Magnitude0
OMIM137163
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121434580(C;C)
Alt rs121434580(C;C)
Reference Rs121434580(A;A)
Significance Other
Disease Generalized epilepsy with febrile seizures plus type 5
Variation info
Gene GABRD
CLNDBN Generalized epilepsy with febrile seizures plus type 5
Reversed 0
HGVS NC_000001.10:g.1959075A>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000017598.2,