rs79761183

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(G;G)	0	common in complete genomics

Make rs79761183(A;A)

Make rs79761183(A;G)

Reference

GRCh38 38.1/141

Chromosome

6

Position

52452776

Gene

EFHC1

is a	snp
is	mentioned by
dbSNP	rs79761183
dbSNP (classic)	rs79761183
ClinGen	rs79761183
ebi	rs79761183
HLI	rs79761183
Exac	rs79761183
Gnomad	rs79761183
Varsome	rs79761183
LitVar	rs79761183
Map	rs79761183
PheGenI	rs79761183
Biobank	rs79761183
1000 genomes	rs79761183
hgdp	rs79761183
ensembl	rs79761183
geneview	rs79761183
scholar	rs79761183
google	rs79761183
pharmgkb	rs79761183
gwascentral	rs79761183
openSNP	rs79761183
23andMe	rs79761183
SNPshot	rs79761183
SNPdbe	rs79761183
MSV3d	rs79761183
GWAS Ctlg	rs79761183

GMAF

0.004132

Max Magnitude

0

OMIM	608815
Desc
Variant	0005
Related	also

ClinVar
Risk	rs79761183(A;A)
Alt	rs79761183(A;A)
Reference	Rs79761183(G;G)
Significance	Other
Disease	Myoclonic epilepsy not specified not provided Epilepsy juvenile absence Juvenile myoclonic epilepsy
Variation	info
Gene	EFHC1
CLNDBN	Myoclonic epilepsy, juvenile 1 not specified not provided Epilepsy juvenile absence Juvenile myoclonic epilepsy
Reversed	0
HGVS	NC_000006.11:g.52317574G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002148.3, RCV000187341.3, RCV000258970.2, RCV000456986.1,