rs137852781

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common genotype

Make rs137852781(C;T)

Make rs137852781(T;T)

Reference

GRCh38 38.1/141

Chromosome

6

Position

52454254

Gene

EFHC1

is a	snp
is	mentioned by
dbSNP	rs137852781
dbSNP (classic)	rs137852781
ClinGen	rs137852781
ebi	rs137852781
HLI	rs137852781
Exac	rs137852781
Gnomad	rs137852781
Varsome	rs137852781
LitVar	rs137852781
Map	rs137852781
PheGenI	rs137852781
Biobank	rs137852781
1000 genomes	rs137852781
hgdp	rs137852781
ensembl	rs137852781
geneview	rs137852781
scholar	rs137852781
google	rs137852781
pharmgkb	rs137852781
gwascentral	rs137852781
openSNP	rs137852781
23andMe	rs137852781
SNPshot	rs137852781
SNPdbe	rs137852781
MSV3d	rs137852781
GWAS Ctlg	rs137852781

Max Magnitude

0

OMIM	608815
Desc
Variant	0008
Related	also

ClinVar
Risk	rs137852781(T;T)
Alt	rs137852781(T;T)
Reference	Rs137852781(C;C)
Significance	Other
Disease	Myoclonic epilepsy
Variation	info
Gene	EFHC1
CLNDBN	Myoclonic epilepsy, juvenile 1
Reversed	0
HGVS	NC_000006.11:g.52319052C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000002151.3,