rs121912709

Orientation

minus

Stabilized

minus

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

Make rs121912709(T;T)

Reference

GRCh38 38.1/141

Chromosome

5

Position

126577133

Gene

ALDH7A1

is a	snp
is	mentioned by
dbSNP	rs121912709
dbSNP (classic)	rs121912709
ClinGen	rs121912709
ebi	rs121912709
HLI	rs121912709
Exac	rs121912709
Gnomad	rs121912709
Varsome	rs121912709
LitVar	rs121912709
Map	rs121912709
PheGenI	rs121912709
Biobank	rs121912709
1000 genomes	rs121912709
hgdp	rs121912709
ensembl	rs121912709
geneview	rs121912709
scholar	rs121912709
google	rs121912709
pharmgkb	rs121912709
gwascentral	rs121912709
openSNP	rs121912709
23andMe	rs121912709
SNPshot	rs121912709
SNPdbe	rs121912709
MSV3d	rs121912709
GWAS Ctlg	rs121912709

Max Magnitude

3

OMIM	107323
Desc
Variant	0005
Related	also

ClinVar
Risk	rs121912709(T;T)
Alt	rs121912709(T;T)
Reference	Rs121912709(C;C)
Significance	Pathogenic
Disease	Pyridoxine-dependent epilepsy
Variation	info
Gene	ALDH7A1
CLNDBN	Pyridoxine-dependent epilepsy
Reversed	1
HGVS	NC_000005.9:g.125912825G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019614.27,