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rs137852776

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common on affy axiom data
Make rs137852776(C;C)
Make rs137852776(C;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position52452799
GeneEFHC1
is asnp
is mentioned by
dbSNPrs137852776
dbSNP (classic)rs137852776
ClinGenrs137852776
ebirs137852776
HLIrs137852776
Exacrs137852776
Gnomadrs137852776
Varsomers137852776
LitVarrs137852776
Maprs137852776
PheGenIrs137852776
Biobankrs137852776
1000 genomesrs137852776
hgdprs137852776
ensemblrs137852776
geneviewrs137852776
scholarrs137852776
googlers137852776
pharmgkbrs137852776
gwascentralrs137852776
openSNPrs137852776
23andMers137852776
SNPshotrs137852776
SNPdbers137852776
MSV3drs137852776
GWAS Ctlgrs137852776
Merged fromRs28940311
GMAF0.0009183
Max Magnitude0
OMIM608815
Desc
Variant0002
Relatedalso
ClinVar
Risk rs137852776(C;C)
Alt rs137852776(C;C)
Reference Rs137852776(T;T)
Significance Other
Disease Myoclonic epilepsy not specified Epilepsy juvenile absence Juvenile myoclonic epilepsy
Variation info
Gene EFHC1
CLNDBN Myoclonic epilepsy, juvenile 1 not specified Epilepsy juvenile absence Juvenile myoclonic epilepsy
Reversed 0
HGVS NC_000006.11:g.52317597T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000002145.3, RCV000178317.4, RCV000467225.1,