rs372660425

Orientation

plus

Stabilized

plus

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

Make rs372660425(C;C)

Reference

GRCh38.p2 38.2/146

Chromosome

5

Position

126577145

Gene

ALDH7A1

is a	snp
is	mentioned by
dbSNP	rs372660425
dbSNP (classic)	rs372660425
ClinGen	rs372660425
ebi	rs372660425
HLI	rs372660425
Exac	rs372660425
Gnomad	rs372660425
Varsome	rs372660425
LitVar	rs372660425
Map	rs372660425
PheGenI	rs372660425
Biobank	rs372660425
1000 genomes	rs372660425
hgdp	rs372660425
ensembl	rs372660425
geneview	rs372660425
scholar	rs372660425
google	rs372660425
pharmgkb	rs372660425
gwascentral	rs372660425
openSNP	rs372660425
23andMe	rs372660425
SNPshot	rs372660425
SNPdbe	rs372660425
MSV3d	rs372660425
GWAS Ctlg	rs372660425

Max Magnitude

3

ClinVar
Risk	rs372660425(C;C)
Alt	rs372660425(C;C)
Reference	Rs372660425(T;T)
Significance	Pathogenic
Disease	Pyridoxine-dependent epilepsy not provided
Variation	info
Gene	ALDH7A1
CLNDBN	Pyridoxine-dependent epilepsy not provided
Reversed	0
HGVS	NC_000005.9:g.125912837T>C
CLNSRC
CLNACC	RCV000206803.1, RCV000484609.1,