rs137852777

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(G;G)	0	common genotype

Make rs137852777(A;A)

Make rs137852777(A;G)

Reference

GRCh38 38.1/141

Chromosome

6

Position

52452742

Gene

EFHC1

is a	snp
is	mentioned by
dbSNP	rs137852777
dbSNP (classic)	rs137852777
ClinGen	rs137852777
ebi	rs137852777
HLI	rs137852777
Exac	rs137852777
Gnomad	rs137852777
Varsome	rs137852777
LitVar	rs137852777
Map	rs137852777
PheGenI	rs137852777
Biobank	rs137852777
1000 genomes	rs137852777
hgdp	rs137852777
ensembl	rs137852777
geneview	rs137852777
scholar	rs137852777
google	rs137852777
pharmgkb	rs137852777
gwascentral	rs137852777
openSNP	rs137852777
23andMe	rs137852777
SNPshot	rs137852777
SNPdbe	rs137852777
MSV3d	rs137852777
GWAS Ctlg	rs137852777

Max Magnitude

0

OMIM	608815
Desc
Variant	0003
Related	also

ClinVar
Risk	rs137852777(A;A)
Alt	rs137852777(A;A)
Reference	Rs137852777(G;G)
Significance	Other
Disease	Myoclonic epilepsy Juvenile myoclonic epilepsy
Variation	info
Gene	EFHC1
CLNDBN	Myoclonic epilepsy, juvenile 1 Juvenile myoclonic epilepsy
Reversed	0
HGVS	NC_000006.11:g.52317540G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002146.3, RCV000468282.1,