rs144701796

Orientation

plus

Stabilized

plus

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

Make rs144701796(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

5

Position

126549976

Gene

ALDH7A1

is a	snp
is	mentioned by
dbSNP	rs144701796
dbSNP (classic)	rs144701796
ClinGen	rs144701796
ebi	rs144701796
HLI	rs144701796
Exac	rs144701796
Gnomad	rs144701796
Varsome	rs144701796
LitVar	rs144701796
Map	rs144701796
PheGenI	rs144701796
Biobank	rs144701796
1000 genomes	rs144701796
hgdp	rs144701796
ensembl	rs144701796
geneview	rs144701796
scholar	rs144701796
google	rs144701796
pharmgkb	rs144701796
gwascentral	rs144701796
openSNP	rs144701796
23andMe	rs144701796
SNPshot	rs144701796
SNPdbe	rs144701796
MSV3d	rs144701796
GWAS Ctlg	rs144701796

Max Magnitude

3

ClinVar
Risk	rs144701796(G;G)
Alt	rs144701796(G;G)
Reference	Rs144701796(A;A)
Significance	Probable-Pathogenic
Disease	not provided
Variation	info
Gene	ALDH7A1
CLNDBN	not provided
Reversed	0
HGVS	NC_000005.9:g.125885668A>T
CLNSRC
CLNACC	RCV000494187.1,