rs864622558

Orientation

minus

Stabilized

minus

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

Make rs864622558(A;A)

Reference

GRCh38.p2 38.2/146

Chromosome

5

Position

126559262

Gene

ALDH7A1

is a	snp
is	mentioned by
dbSNP	rs864622558
dbSNP (classic)	rs864622558
ClinGen	rs864622558
ebi	rs864622558
HLI	rs864622558
Exac	rs864622558
Gnomad	rs864622558
Varsome	rs864622558
LitVar	rs864622558
Map	rs864622558
PheGenI	rs864622558
Biobank	rs864622558
1000 genomes	rs864622558
hgdp	rs864622558
ensembl	rs864622558
geneview	rs864622558
scholar	rs864622558
google	rs864622558
pharmgkb	rs864622558
gwascentral	rs864622558
openSNP	rs864622558
23andMe	rs864622558
SNPshot	rs864622558
SNPdbe	rs864622558
MSV3d	rs864622558
GWAS Ctlg	rs864622558

Max Magnitude

3

aka c.986G>A (p.Arg329Lys)

23andMe name: i709034

ClinVar
Risk	rs864622558(A;A)
Alt	rs864622558(A;A)
Reference	Rs864622558(G;G)
Significance	Pathogenic
Disease	Pyridoxine-dependent epilepsy
Variation	info
Gene	ALDH7A1
CLNDBN	Pyridoxine-dependent epilepsy
Reversed	1
HGVS	NC_000005.9:g.125894954C>T
CLNSRC
CLNACC	RCV000206370.2,