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rs137852779

From SNPedia

Orientationplus
Stabilizedplus
Make rs137852779(A;A)
Make rs137852779(A;G)
Make rs137852779(G;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position52438538
GeneEFHC1
is asnp
is mentioned by
dbSNPrs137852779
dbSNP (old)rs137852779
ClinGenrs137852779
ebirs137852779
HLIrs137852779
Exacrs137852779
Gnomadrs137852779
Varsomers137852779
Maprs137852779
PheGenIrs137852779
Biobankrs137852779
1000 genomesrs137852779
hgdprs137852779
ensemblrs137852779
gopubmedrs137852779
geneviewrs137852779
scholarrs137852779
googlers137852779
pharmgkbrs137852779
gwascentralrs137852779
openSNPrs137852779
23andMers137852779
23andMe allrs137852779
SNP Nexus

SNPshotrs137852779
SNPdbers137852779
MSV3drs137852779
GWAS Ctlgrs137852779
Max Magnitude
OMIM608815
Desc
Variant0006
Relatedalso
ClinVar
Risk rs137852779(G;G)
Alt rs137852779(G;G)
Reference rs137852779(A;A)
Significance Other
Disease Epilepsy juvenile absence
Variation info
Gene EFHC1
CLNDBN Epilepsy juvenile absence
Reversed 0
HGVS NC_000006.11:g.52303336A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000002149.3,