rs3804505

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common on affy axiom data
(C;T)		?
(T;T)	2	rare, related to myoclonic epilepsy

Reference

GRCh38 38.1/142

Chromosome

6

Position

52438563

Gene

EFHC1

is a	snp
is	mentioned by
dbSNP	rs3804505
dbSNP (classic)	rs3804505
ClinGen	rs3804505
ebi	rs3804505
HLI	rs3804505
Exac	rs3804505
Gnomad	rs3804505
Varsome	rs3804505
LitVar	rs3804505
Map	rs3804505
PheGenI	rs3804505
Biobank	rs3804505
1000 genomes	rs3804505
hgdp	rs3804505
ensembl	rs3804505
geneview	rs3804505
scholar	rs3804505
google	rs3804505
pharmgkb	rs3804505
gwascentral	rs3804505
openSNP	rs3804505
23andMe	rs3804505
SNPshot	rs3804505
SNPdbe	rs3804505
MSV3d	rs3804505
GWAS Ctlg	rs3804505

GMAF

0.04362

Max Magnitude

2

?	(C;C) (C;T) (T;T)	28

OMIM	608815
Desc	MYOCLONIC EPILEPSY, JUVENILE, 1
Variant	0001
Related	also

ClinVar
Risk	rs3804505(A;A) Rs3804505(T;T)
Alt	rs3804505(A;A) 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 UniProtKB (protein)
CLNACC	RCV000002144.3, RCV000116950.3,

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