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rs137852778

From SNPedia

Orientationplus
Stabilizedplus
Make rs137852778(G;G)
Make rs137852778(G;T)
Make rs137852778(T;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position52454128
GeneEFHC1
is asnp
is mentioned by
dbSNPrs137852778
dbSNP (old)rs137852778
ClinGenrs137852778
ebirs137852778
HLIrs137852778
Exacrs137852778
Gnomadrs137852778
Varsomers137852778
Maprs137852778
PheGenIrs137852778
Biobankrs137852778
1000 genomesrs137852778
hgdprs137852778
ensemblrs137852778
gopubmedrs137852778
geneviewrs137852778
scholarrs137852778
googlers137852778
pharmgkbrs137852778
gwascentralrs137852778
openSNPrs137852778
23andMers137852778
23andMe allrs137852778
SNP Nexus

SNPshotrs137852778
SNPdbers137852778
MSV3drs137852778
GWAS Ctlgrs137852778
Merged fromRs28940312
Max Magnitude
OMIM608815
Desc
Variant0004
Relatedalso
ClinVar
Risk rs137852778(A;A) rs137852778(T;T)
Alt rs137852778(A;A) rs137852778(T;T)
Reference rs137852778(G;G)
Significance Other
Disease Myoclonic epilepsy
Variation info
Gene EFHC1
CLNDBN Myoclonic epilepsy, juvenile 1
Reversed 0
HGVS NC_000006.11:g.52318926G>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000002147.3,