rs758414053

Orientation

plus

Stabilized

plus

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

Make rs758414053(C;C)

Reference

GRCh38.p2 38.2/144

Chromosome

5

Position

126592690

Gene

ALDH7A1

is a	snp
is	mentioned by
dbSNP	rs758414053
dbSNP (classic)	rs758414053
ClinGen	rs758414053
ebi	rs758414053
HLI	rs758414053
Exac	rs758414053
Gnomad	rs758414053
Varsome	rs758414053
LitVar	rs758414053
Map	rs758414053
PheGenI	rs758414053
Biobank	rs758414053
1000 genomes	rs758414053
hgdp	rs758414053
ensembl	rs758414053
geneview	rs758414053
scholar	rs758414053
google	rs758414053
pharmgkb	rs758414053
gwascentral	rs758414053
openSNP	rs758414053
23andMe	rs758414053
SNPshot	rs758414053
SNPdbe	rs758414053
MSV3d	rs758414053
GWAS Ctlg	rs758414053

Max Magnitude

3

ClinVar
Risk	rs758414053(C;C)
Alt	rs758414053(C;C)
Reference	Rs758414053(-;-)
Significance	Pathogenic
Disease	not provided
Variation	info
Gene	ALDH7A1
CLNDBN	not provided
Reversed	0
HGVS	NC_000005.9:g.125928382_125928383insC
CLNSRC
CLNACC	RCV000186766.1,