rs137852778

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(G;G)	0	common genotype

Make rs137852778(G;T)

Make rs137852778(T;T)

Reference

GRCh38 38.1/141

Chromosome

6

Position

52454128

Gene

EFHC1

is a	snp
is	mentioned by
dbSNP	rs137852778
dbSNP (classic)	rs137852778
ClinGen	rs137852778
ebi	rs137852778
HLI	rs137852778
Exac	rs137852778
Gnomad	rs137852778
Varsome	rs137852778
LitVar	rs137852778
Map	rs137852778
PheGenI	rs137852778
Biobank	rs137852778
1000 genomes	rs137852778
hgdp	rs137852778
ensembl	rs137852778
geneview	rs137852778
scholar	rs137852778
google	rs137852778
pharmgkb	rs137852778
gwascentral	rs137852778
openSNP	rs137852778
23andMe	rs137852778
SNPshot	rs137852778
SNPdbe	rs137852778
MSV3d	rs137852778
GWAS Ctlg	rs137852778

Merged from

Rs28940312

Max Magnitude

0

OMIM	608815
Desc
Variant	0004
Related	also

ClinVar
Risk	rs137852778(A;A) rs137852778(T;T)
Alt	rs137852778(A;A) rs137852778(T;T)
Reference	Rs137852778(G;G)
Significance	Other
Disease	Myoclonic epilepsy
Variation	info
Gene	EFHC1
CLNDBN	Myoclonic epilepsy, juvenile 1
Reversed	0
HGVS	NC_000006.11:g.52318926G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002147.3,