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rs137852777

From SNPedia

Orientationplus
Stabilizedplus
Make rs137852777(A;A)
Make rs137852777(A;G)
Make rs137852777(G;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position52452742
GeneEFHC1
is asnp
is mentioned by
dbSNPrs137852777
dbSNP (old)rs137852777
ClinGenrs137852777
ebirs137852777
HLIrs137852777
Exacrs137852777
Varsomers137852777
Maprs137852777
PheGenIrs137852777
Biobankrs137852777
1000 genomesrs137852777
hgdprs137852777
ensemblrs137852777
gopubmedrs137852777
geneviewrs137852777
scholarrs137852777
googlers137852777
pharmgkbrs137852777
gwascentralrs137852777
openSNPrs137852777
23andMers137852777
23andMe allrs137852777
SNP Nexus

SNPshotrs137852777
SNPdbers137852777
MSV3drs137852777
GWAS Ctlgrs137852777
Max Magnitude
OMIM608815
Desc
Variant0003
Relatedalso
ClinVar
Risk rs137852777(A;A)
Alt rs137852777(A;A)
Reference rs137852777(G;G)
Significance Other
Disease Myoclonic epilepsy Juvenile myoclonic epilepsy
Variation info
Gene EFHC1
CLNDBN Myoclonic epilepsy, juvenile 1 Juvenile myoclonic epilepsy
Reversed 0
HGVS NC_000006.11:g.52317540G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000002146.3, RCV000468282.1,