rs796052260

Orientation

minus

Stabilized

minus

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

Make rs796052260(C;C)

Reference

GRCh38.p2 38.2/146

Chromosome

5

Position

126568304

Gene

ALDH7A1

is a	snp
is	mentioned by
dbSNP	rs796052260
dbSNP (classic)	rs796052260
ClinGen	rs796052260
ebi	rs796052260
HLI	rs796052260
Exac	rs796052260
Gnomad	rs796052260
Varsome	rs796052260
LitVar	rs796052260
Map	rs796052260
PheGenI	rs796052260
Biobank	rs796052260
1000 genomes	rs796052260
hgdp	rs796052260
ensembl	rs796052260
geneview	rs796052260
scholar	rs796052260
google	rs796052260
pharmgkb	rs796052260
gwascentral	rs796052260
openSNP	rs796052260
23andMe	rs796052260
SNPshot	rs796052260
SNPdbe	rs796052260
MSV3d	rs796052260
GWAS Ctlg	rs796052260

Max Magnitude

3

ClinVar
Risk	rs796052260(C;C) rs796052260(G;G)
Alt	rs796052260(C;C) rs796052260(G;G)
Reference	Rs796052260(A;A)
Significance	Probable-Pathogenic
Disease	not provided
Variation	info
Gene	ALDH7A1
CLNDBN	not provided
Reversed	1
HGVS	NC_000005.9:g.125903996T>G
CLNSRC
CLNACC	RCV000186735.2,