rs796052270

Orientation

minus

Stabilized

minus

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

Make rs796052270(AG;AG)

Reference

GRCh38.p2 38.2/146

Chromosome

5

Position

126595006

Gene

ALDH7A1

is a	snp
is	mentioned by
dbSNP	rs796052270
dbSNP (classic)	rs796052270
ClinGen	rs796052270
ebi	rs796052270
HLI	rs796052270
Exac	rs796052270
Gnomad	rs796052270
Varsome	rs796052270
LitVar	rs796052270
Map	rs796052270
PheGenI	rs796052270
Biobank	rs796052270
1000 genomes	rs796052270
hgdp	rs796052270
ensembl	rs796052270
geneview	rs796052270
scholar	rs796052270
google	rs796052270
pharmgkb	rs796052270
gwascentral	rs796052270
openSNP	rs796052270
23andMe	rs796052270
SNPshot	rs796052270
SNPdbe	rs796052270
MSV3d	rs796052270
GWAS Ctlg	rs796052270

Max Magnitude

3

ClinVar
Risk	rs796052270(AG;AG)
Alt	rs796052270(AG;AG)
Reference	Rs796052270(-;-)
Significance	Pathogenic
Disease	not provided
Variation	info
Gene	ALDH7A1
CLNDBN	not provided
Reversed	1
HGVS	NC_000005.9:g.125930699_125930700dupCT
CLNSRC
CLNACC	RCV000186760.1,