rs368820286

Orientation

plus

Stabilized

plus

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

Make rs368820286(T;T)

Reference

GRCh38.p7 38.3/149

Chromosome

5

Position

126549924

Gene

ALDH7A1

is a	snp
is	mentioned by
dbSNP	rs368820286
dbSNP (classic)	rs368820286
ClinGen	rs368820286
ebi	rs368820286
HLI	rs368820286
Exac	rs368820286
Gnomad	rs368820286
Varsome	rs368820286
LitVar	rs368820286
Map	rs368820286
PheGenI	rs368820286
Biobank	rs368820286
1000 genomes	rs368820286
hgdp	rs368820286
ensembl	rs368820286
geneview	rs368820286
scholar	rs368820286
google	rs368820286
pharmgkb	rs368820286
gwascentral	rs368820286
openSNP	rs368820286
23andMe	rs368820286
SNPshot	rs368820286
SNPdbe	rs368820286
MSV3d	rs368820286
GWAS Ctlg	rs368820286

Max Magnitude

3

ClinVar
Risk	rs368820286(T;T)
Alt	rs368820286(T;T)
Reference	Rs368820286(C;C)
Significance	Pathogenic
Disease	not provided
Variation	info
Gene	ALDH7A1
CLNDBN	not provided
Reversed	0
HGVS	NC_000005.9:g.125885616C>T
CLNSRC
CLNACC	RCV000408272.1,