rs137852779

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	0	common genotype

Make rs137852779(A;G)

Make rs137852779(G;G)

Reference

GRCh38 38.1/141

Chromosome

6

Position

52438538

Gene

EFHC1

is a	snp
is	mentioned by
dbSNP	rs137852779
dbSNP (classic)	rs137852779
ClinGen	rs137852779
ebi	rs137852779
HLI	rs137852779
Exac	rs137852779
Gnomad	rs137852779
Varsome	rs137852779
LitVar	rs137852779
Map	rs137852779
PheGenI	rs137852779
Biobank	rs137852779
1000 genomes	rs137852779
hgdp	rs137852779
ensembl	rs137852779
geneview	rs137852779
scholar	rs137852779
google	rs137852779
pharmgkb	rs137852779
gwascentral	rs137852779
openSNP	rs137852779
23andMe	rs137852779
SNPshot	rs137852779
SNPdbe	rs137852779
MSV3d	rs137852779
GWAS Ctlg	rs137852779

Max Magnitude

0

OMIM	608815
Desc
Variant	0006
Related	also

ClinVar
Risk	rs137852779(G;G)
Alt	rs137852779(G;G)
Reference	Rs137852779(A;A)
Significance	Other
Disease	Epilepsy juvenile absence
Variation	info
Gene	EFHC1
CLNDBN	Epilepsy juvenile absence
Reversed	0
HGVS	NC_000006.11:g.52303336A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002149.3,