rs764417585

Orientation

plus

Stabilized

plus

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

Make rs764417585(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

5

Position

126577199

Gene

ALDH7A1

is a	snp
is	mentioned by
dbSNP	rs764417585
dbSNP (classic)	rs764417585
ClinGen	rs764417585
ebi	rs764417585
HLI	rs764417585
Exac	rs764417585
Gnomad	rs764417585
Varsome	rs764417585
LitVar	rs764417585
Map	rs764417585
PheGenI	rs764417585
Biobank	rs764417585
1000 genomes	rs764417585
hgdp	rs764417585
ensembl	rs764417585
geneview	rs764417585
scholar	rs764417585
google	rs764417585
pharmgkb	rs764417585
gwascentral	rs764417585
openSNP	rs764417585
23andMe	rs764417585
SNPshot	rs764417585
SNPdbe	rs764417585
MSV3d	rs764417585
GWAS Ctlg	rs764417585

Max Magnitude

3

ClinVar
Risk	rs764417585(T;T)
Alt	rs764417585(T;T)
Reference	Rs764417585(G;G)
Significance	Pathogenic
Disease	Pyridoxine-dependent epilepsy
Variation	info
Gene	ALDH7A1
CLNDBN	Pyridoxine-dependent epilepsy
Reversed	0
HGVS	NC_000005.9:g.125912891G>T
CLNSRC
CLNACC	RCV000471461.1,