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rs796052414

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs796052414(C;G)
Make rs796052414(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome6
Position52454197
GeneEFHC1
is asnp
is mentioned by
dbSNPrs796052414
ebirs796052414
HLIrs796052414
Exacrs796052414
Varsomers796052414
Maprs796052414
PheGenIrs796052414
hapmaprs796052414
1000 genomesrs796052414
hgdprs796052414
ensemblrs796052414
gopubmedrs796052414
geneviewrs796052414
scholarrs796052414
googlers796052414
pharmgkbrs796052414
gwascentralrs796052414
openSNPrs796052414
23andMers796052414
23andMe allrs796052414
SNP Nexus

SNPshotrs796052414
SNPdbers796052414
MSV3drs796052414
GWAS Ctlgrs796052414
Max Magnitude0
ClinVar
Risk rs796052414(G;G)
Alt rs796052414(G;G)
Reference rs796052414(C;C)
Significance Pathogenic
Disease not specified Myoclonic epilepsy
Variation info
Gene EFHC1
CLNDBN not specified Myoclonic epilepsy, juvenile 1
Reversed 0
HGVS NC_000006.11:g.52318995C>G; NC_000006.11:g.52318995C>T
CLNSRC
CLNACC RCV000187349.2, RCV000195077.1,