rs137852780

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(G;G)	0	common genotype

Make rs137852780(A;A)

Make rs137852780(A;G)

Reference

GRCh38 38.1/141

Chromosome

6

Position

52454147

Gene

EFHC1

is a	snp
is	mentioned by
dbSNP	rs137852780
dbSNP (classic)	rs137852780
ClinGen	rs137852780
ebi	rs137852780
HLI	rs137852780
Exac	rs137852780
Gnomad	rs137852780
Varsome	rs137852780
LitVar	rs137852780
Map	rs137852780
PheGenI	rs137852780
Biobank	rs137852780
1000 genomes	rs137852780
hgdp	rs137852780
ensembl	rs137852780
geneview	rs137852780
scholar	rs137852780
google	rs137852780
pharmgkb	rs137852780
gwascentral	rs137852780
openSNP	rs137852780
23andMe	rs137852780
SNPshot	rs137852780
SNPdbe	rs137852780
MSV3d	rs137852780
GWAS Ctlg	rs137852780

Max Magnitude

0

OMIM	608815
Desc
Variant	0007
Related	also

ClinVar
Risk	rs137852780(A;A)
Alt	rs137852780(A;A)
Reference	Rs137852780(G;G)
Significance	Other
Disease	Epilepsy juvenile absence
Variation	info
Gene	EFHC1
CLNDBN	Epilepsy juvenile absence
Reversed	0
HGVS	NC_000006.11:g.52318945G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002150.3,