rs796052267

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(-;G)	3	Carrier of a pyridoxine-dependent epilepsy mutation
(G;G)	0	common in clinvar

Make rs796052267(-;-)

Reference

GRCh38.p2 38.2/146

Chromosome

5

Position

126549950

Gene

ALDH7A1

is a	snp
is	mentioned by
dbSNP	rs796052267
dbSNP (classic)	rs796052267
ClinGen	rs796052267
ebi	rs796052267
HLI	rs796052267
Exac	rs796052267
Gnomad	rs796052267
Varsome	rs796052267
LitVar	rs796052267
Map	rs796052267
PheGenI	rs796052267
Biobank	rs796052267
1000 genomes	rs796052267
hgdp	rs796052267
ensembl	rs796052267
geneview	rs796052267
scholar	rs796052267
google	rs796052267
pharmgkb	rs796052267
gwascentral	rs796052267
openSNP	rs796052267
23andMe	rs796052267
SNPshot	rs796052267
SNPdbe	rs796052267
MSV3d	rs796052267
GWAS Ctlg	rs796052267

Max Magnitude

3

ClinVar
Risk	rs796052267(-;-)
Alt	rs796052267(-;-)
Reference	Rs796052267(G;G)
Significance	Pathogenic
Disease	not provided
Variation	info
Gene	ALDH7A1
CLNDBN	not provided
Reversed	1
HGVS	NC_000005.9:g.125885642delC
CLNSRC
CLNACC	RCV000186757.1,