rs796052414

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs796052414(C;G)

Make rs796052414(G;G)

Reference

GRCh38.p2 38.2/146

Chromosome

6

Position

52454197

Gene

EFHC1

is a	snp
is	mentioned by
dbSNP	rs796052414
dbSNP (classic)	rs796052414
ClinGen	rs796052414
ebi	rs796052414
HLI	rs796052414
Exac	rs796052414
Gnomad	rs796052414
Varsome	rs796052414
LitVar	rs796052414
Map	rs796052414
PheGenI	rs796052414
Biobank	rs796052414
1000 genomes	rs796052414
hgdp	rs796052414
ensembl	rs796052414
geneview	rs796052414
scholar	rs796052414
google	rs796052414
pharmgkb	rs796052414
gwascentral	rs796052414
openSNP	rs796052414
23andMe	rs796052414
SNPshot	rs796052414
SNPdbe	rs796052414
MSV3d	rs796052414
GWAS Ctlg	rs796052414

Max Magnitude

0

ClinVar
Risk	rs796052414(G;G) rs796052414(T;T)
Alt	rs796052414(G;G) rs796052414(T;T)
Reference	Rs796052414(C;C)
Significance	Pathogenic
Disease	not specified Myoclonic epilepsy
Variation	info
Gene	EFHC1
CLNDBN	not specified Myoclonic epilepsy, juvenile 1
Reversed	0
HGVS	NC_000006.11:g.52318995C>G; NC_000006.11:g.52318995C>T
CLNSRC
CLNACC	RCV000187349.2, RCV000195077.1,