rs1064794053

Orientation

minus

Stabilized

minus

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

Make rs1064794053(C;C)

Chromosome

5

Position

126582975

Gene

ALDH7A1

is a	snp
is	mentioned by
dbSNP	rs1064794053
dbSNP (classic)	rs1064794053
ClinGen	rs1064794053
ebi	rs1064794053
HLI	rs1064794053
Exac	rs1064794053
Gnomad	rs1064794053
Varsome	rs1064794053
LitVar	rs1064794053
Map	rs1064794053
PheGenI	rs1064794053
Biobank	rs1064794053
1000 genomes	rs1064794053
hgdp	rs1064794053
ensembl	rs1064794053
geneview	rs1064794053
scholar	rs1064794053
google	rs1064794053
pharmgkb	rs1064794053
gwascentral	rs1064794053
openSNP	rs1064794053
23andMe	rs1064794053
SNPshot	rs1064794053
SNPdbe	rs1064794053
MSV3d	rs1064794053
GWAS Ctlg	rs1064794053

Max Magnitude

3

ClinVar
Risk	rs1064794053(C;C)
Alt	rs1064794053(C;C)
Reference	Rs1064794053(G;G)
Significance	Pathogenic
Disease	not provided
Variation	info
Gene	ALDH7A1
CLNDBN	not provided
Reversed	1
HGVS	NC_000005.9:g.125918667C>G
CLNSRC
CLNACC	RCV000481389.1,