rs556400964

Orientation

plus

Stabilized

plus

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

Make rs556400964(G;G)

Reference

GRCh38.p2 38.2/144

Chromosome

5

Position

126546376

Gene

ALDH7A1

is a	snp
is	mentioned by
dbSNP	rs556400964
dbSNP (classic)	rs556400964
ClinGen	rs556400964
ebi	rs556400964
HLI	rs556400964
Exac	rs556400964
Gnomad	rs556400964
Varsome	rs556400964
LitVar	rs556400964
Map	rs556400964
PheGenI	rs556400964
Biobank	rs556400964
1000 genomes	rs556400964
hgdp	rs556400964
ensembl	rs556400964
geneview	rs556400964
scholar	rs556400964
google	rs556400964
pharmgkb	rs556400964
gwascentral	rs556400964
openSNP	rs556400964
23andMe	rs556400964
SNPshot	rs556400964
SNPdbe	rs556400964
MSV3d	rs556400964
GWAS Ctlg	rs556400964

Max Magnitude

3

ClinVar
Risk	rs556400964(G;G)
Alt	rs556400964(G;G)
Reference	Rs556400964(C;C)
Significance	Pathogenic
Disease	not provided
Variation	info
Gene	ALDH7A1
CLNDBN	not provided
Reversed	0
HGVS	NC_000005.9:g.125882068C>G
CLNSRC
CLNACC	RCV000186750.3,