rs794727058

Orientation

minus

Stabilized

minus

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

Make rs794727058(A;A)

Reference

GRCh38.p2 38.2/146

Chromosome

5

Position

126555930

Gene

ALDH7A1

is a	snp
is	mentioned by
dbSNP	rs794727058
dbSNP (classic)	rs794727058
ClinGen	rs794727058
ebi	rs794727058
HLI	rs794727058
Exac	rs794727058
Gnomad	rs794727058
Varsome	rs794727058
LitVar	rs794727058
Map	rs794727058
PheGenI	rs794727058
Biobank	rs794727058
1000 genomes	rs794727058
hgdp	rs794727058
ensembl	rs794727058
geneview	rs794727058
scholar	rs794727058
google	rs794727058
pharmgkb	rs794727058
gwascentral	rs794727058
openSNP	rs794727058
23andMe	rs794727058
SNPshot	rs794727058
SNPdbe	rs794727058
MSV3d	rs794727058
GWAS Ctlg	rs794727058

Max Magnitude

3

ClinVar
Risk	rs794727058(A;A)
Alt	rs794727058(A;A)
Reference	Rs794727058(G;G)
Significance	Pathogenic
Disease	Pyridoxine-dependent epilepsy
Variation	info
Gene	ALDH7A1
CLNDBN	Pyridoxine-dependent epilepsy
Reversed	1
HGVS	NC_000005.9:g.125891622C>T
CLNSRC
CLNACC	RCV000174294.1,