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rs137852781

From SNPedia

Orientationplus
Stabilizedplus
Make rs137852781(C;C)
Make rs137852781(C;T)
Make rs137852781(T;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position52454254
GeneEFHC1
is asnp
is mentioned by
dbSNPrs137852781
dbSNP (old)rs137852781
ClinGenrs137852781
ebirs137852781
HLIrs137852781
Exacrs137852781
Gnomadrs137852781
Varsomers137852781
Maprs137852781
PheGenIrs137852781
Biobankrs137852781
1000 genomesrs137852781
hgdprs137852781
ensemblrs137852781
gopubmedrs137852781
geneviewrs137852781
scholarrs137852781
googlers137852781
pharmgkbrs137852781
gwascentralrs137852781
openSNPrs137852781
23andMers137852781
23andMe allrs137852781
SNP Nexus

SNPshotrs137852781
SNPdbers137852781
MSV3drs137852781
GWAS Ctlgrs137852781
Max Magnitude
OMIM608815
Desc
Variant0008
Relatedalso
ClinVar
Risk rs137852781(T;T)
Alt rs137852781(T;T)
Reference rs137852781(C;C)
Significance Other
Disease Myoclonic epilepsy
Variation info
Gene EFHC1
CLNDBN Myoclonic epilepsy, juvenile 1
Reversed 0
HGVS NC_000006.11:g.52319052C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002151.3,