rs387906574

Orientation

minus

Stabilized

minus

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

Make rs387906574(-;-)

Reference

GRCh38 38.1/141

Chromosome

5

Position

126544988

Gene

ALDH7A1

is a	snp
is	mentioned by
dbSNP	rs387906574
dbSNP (classic)	rs387906574
ClinGen	rs387906574
ebi	rs387906574
HLI	rs387906574
Exac	rs387906574
Gnomad	rs387906574
Varsome	rs387906574
LitVar	rs387906574
Map	rs387906574
PheGenI	rs387906574
Biobank	rs387906574
1000 genomes	rs387906574
hgdp	rs387906574
ensembl	rs387906574
geneview	rs387906574
scholar	rs387906574
google	rs387906574
pharmgkb	rs387906574
gwascentral	rs387906574
openSNP	rs387906574
23andMe	rs387906574
SNPshot	rs387906574
SNPdbe	rs387906574
MSV3d	rs387906574
GWAS Ctlg	rs387906574

Max Magnitude

3

ClinVar
Risk	rs387906574(-;-)
Alt	rs387906574(-;-)
Reference	Rs387906574(G;G)
Significance	Pathogenic
Disease	Pyridoxine-dependent epilepsy
Variation	info
Gene	ALDH7A1
CLNDBN	Pyridoxine-dependent epilepsy
Reversed	1
HGVS	NC_000005.9:g.125880680delC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000019615.27,