rs1064793830

Orientation

minus

Stabilized

minus

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

Make rs1064793830(T;T)

Chromosome

5

Position

126546323

Gene

ALDH7A1

is a	snp
is	mentioned by
dbSNP	rs1064793830
dbSNP (classic)	rs1064793830
ClinGen	rs1064793830
ebi	rs1064793830
HLI	rs1064793830
Exac	rs1064793830
Gnomad	rs1064793830
Varsome	rs1064793830
LitVar	rs1064793830
Map	rs1064793830
PheGenI	rs1064793830
Biobank	rs1064793830
1000 genomes	rs1064793830
hgdp	rs1064793830
ensembl	rs1064793830
geneview	rs1064793830
scholar	rs1064793830
google	rs1064793830
pharmgkb	rs1064793830
gwascentral	rs1064793830
openSNP	rs1064793830
23andMe	rs1064793830
SNPshot	rs1064793830
SNPdbe	rs1064793830
MSV3d	rs1064793830
GWAS Ctlg	rs1064793830

Max Magnitude

3

ClinVar
Risk	rs1064793830(T;T)
Alt	rs1064793830(T;T)
Reference	Rs1064793830(G;G)
Significance	Pathogenic
Disease	not provided
Variation	info
Gene	ALDH7A1
CLNDBN	not provided
Reversed	1
HGVS	NC_000005.9:g.125882015C>A
CLNSRC
CLNACC	RCV000485613.1,