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rs3804505

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common on affy axiom data
(C;T)  ?
(T;T) 2 rare, related to myoclonic epilepsy
ReferenceGRCh38 38.1/142
Chromosome6
Position52438563
GeneEFHC1
is asnp
is mentioned by
dbSNPrs3804505
ebirs3804505
HLIrs3804505
Exacrs3804505
Varsomers3804505
Maprs3804505
PheGenIrs3804505
hapmaprs3804505
1000 genomesrs3804505
hgdprs3804505
ensemblrs3804505
gopubmedrs3804505
geneviewrs3804505
scholarrs3804505
googlers3804505
pharmgkbrs3804505
gwascentralrs3804505
openSNPrs3804505
23andMers3804505
23andMe allrs3804505
SNP Nexus

SNPshotrs3804505
SNPdbers3804505
MSV3drs3804505
GWAS Ctlgrs3804505
GMAF0.04362
Max Magnitude2
? (C;C) (C;T) (T;T) 28
OMIM608815
DescMYOCLONIC EPILEPSY, JUVENILE, 1
Variant0001
Relatedalso


ClinVar
Risk rs3804505(T;T)
Alt rs3804505(T;T)
Reference rs3804505(C;C)
Significance Other
Disease Myoclonic epilepsy not specified
Variation info
Gene EFHC1
CLNDBN Myoclonic epilepsy, juvenile 1 not specified
Reversed 1
HGVS NC_000006.11:g.52303361G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000002144.2, RCV000116950.2,



[PMID 18823326OA-icon.png] DNA variants in coding region of EFHC1: SNPs do not associate with juvenile myoclonic epilepsy.


GET Evidence
EFHC1-R182H
aa_change Arg182His
aa_change_short R182H
impact benign
qualified_impact Low clinical importance, Likely benign
overall_frequency 0.0439673
summary Probably benign. OMIM appears to incorrectly interpret literature as linking this variant to juvenile myoclonic epilepsy; the authors report it as a polymorphism.