rs796052271

Orientation

minus

Stabilized

minus

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

Make rs796052271(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

5

Position

126552057

Gene

ALDH7A1

is a	snp
is	mentioned by
dbSNP	rs796052271
dbSNP (classic)	rs796052271
ClinGen	rs796052271
ebi	rs796052271
HLI	rs796052271
Exac	rs796052271
Gnomad	rs796052271
Varsome	rs796052271
LitVar	rs796052271
Map	rs796052271
PheGenI	rs796052271
Biobank	rs796052271
1000 genomes	rs796052271
hgdp	rs796052271
ensembl	rs796052271
geneview	rs796052271
scholar	rs796052271
google	rs796052271
pharmgkb	rs796052271
gwascentral	rs796052271
openSNP	rs796052271
23andMe	rs796052271
SNPshot	rs796052271
SNPdbe	rs796052271
MSV3d	rs796052271
GWAS Ctlg	rs796052271

Max Magnitude

3

ClinVar
Risk	rs796052271(T;T)
Alt	rs796052271(T;T)
Reference	Rs796052271(G;G)
Significance	Pathogenic
Disease	not provided
Variation	info
Gene	ALDH7A1
CLNDBN	not provided
Reversed	1
HGVS	NC_000005.9:g.125887749C>A
CLNSRC
CLNACC	RCV000186763.1,