rs1064794242

Orientation

minus

Stabilized

minus

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

Make rs1064794242(A;A)

Chromosome

5

Position

126595022

Gene

ALDH7A1

is a	snp
is	mentioned by
dbSNP	rs1064794242
dbSNP (classic)	rs1064794242
ClinGen	rs1064794242
ebi	rs1064794242
HLI	rs1064794242
Exac	rs1064794242
Gnomad	rs1064794242
Varsome	rs1064794242
LitVar	rs1064794242
Map	rs1064794242
PheGenI	rs1064794242
Biobank	rs1064794242
1000 genomes	rs1064794242
hgdp	rs1064794242
ensembl	rs1064794242
geneview	rs1064794242
scholar	rs1064794242
google	rs1064794242
pharmgkb	rs1064794242
gwascentral	rs1064794242
openSNP	rs1064794242
23andMe	rs1064794242
SNPshot	rs1064794242
SNPdbe	rs1064794242
MSV3d	rs1064794242
GWAS Ctlg	rs1064794242

Max Magnitude

3

ClinVar
Risk	rs1064794242(A;A)
Alt	rs1064794242(A;A)
Reference	Rs1064794242(G;G)
Significance	Pathogenic
Disease	not provided
Variation	info
Gene	ALDH7A1
CLNDBN	not provided
Reversed	1
HGVS	NC_000005.9:g.125930714C>T
CLNSRC
CLNACC	RCV000484489.1,