rs137852776

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(T;T)	0	common on affy axiom data

Make rs137852776(C;C)

Make rs137852776(C;T)

Reference

GRCh38 38.1/141

Chromosome

6

Position

52452799

Gene

EFHC1

is a	snp
is	mentioned by
dbSNP	rs137852776
dbSNP (classic)	rs137852776
ClinGen	rs137852776
ebi	rs137852776
HLI	rs137852776
Exac	rs137852776
Gnomad	rs137852776
Varsome	rs137852776
LitVar	rs137852776
Map	rs137852776
PheGenI	rs137852776
Biobank	rs137852776
1000 genomes	rs137852776
hgdp	rs137852776
ensembl	rs137852776
geneview	rs137852776
scholar	rs137852776
google	rs137852776
pharmgkb	rs137852776
gwascentral	rs137852776
openSNP	rs137852776
23andMe	rs137852776
SNPshot	rs137852776
SNPdbe	rs137852776
MSV3d	rs137852776
GWAS Ctlg	rs137852776

Merged from

Rs28940311

GMAF

0.0009183

Max Magnitude

0

OMIM	608815
Desc
Variant	0002
Related	also

ClinVar
Risk	rs137852776(C;C)
Alt	rs137852776(C;C)
Reference	Rs137852776(T;T)
Significance	Other
Disease	Myoclonic epilepsy not specified Epilepsy juvenile absence Juvenile myoclonic epilepsy
Variation	info
Gene	EFHC1
CLNDBN	Myoclonic epilepsy, juvenile 1 not specified Epilepsy juvenile absence Juvenile myoclonic epilepsy
Reversed	0
HGVS	NC_000006.11:g.52317597T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002145.3, RCV000178317.4, RCV000467225.1,