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rs137852780

From SNPedia

Orientationplus
Stabilizedplus
Make rs137852780(A;A)
Make rs137852780(A;G)
Make rs137852780(G;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position52454147
GeneEFHC1
is asnp
is mentioned by
dbSNPrs137852780
dbSNP (old)rs137852780
ClinGenrs137852780
ebirs137852780
HLIrs137852780
Exacrs137852780
Varsomers137852780
Maprs137852780
PheGenIrs137852780
Biobankrs137852780
1000 genomesrs137852780
hgdprs137852780
ensemblrs137852780
gopubmedrs137852780
geneviewrs137852780
scholarrs137852780
googlers137852780
pharmgkbrs137852780
gwascentralrs137852780
openSNPrs137852780
23andMers137852780
23andMe allrs137852780
SNP Nexus

SNPshotrs137852780
SNPdbers137852780
MSV3drs137852780
GWAS Ctlgrs137852780
Max Magnitude
OMIM608815
Desc
Variant0007
Relatedalso
ClinVar
Risk rs137852780(A;A)
Alt rs137852780(A;A)
Reference rs137852780(G;G)
Significance Other
Disease Epilepsy juvenile absence
Variation info
Gene EFHC1
CLNDBN Epilepsy juvenile absence
Reversed 0
HGVS NC_000006.11:g.52318945G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000002150.3,