rs121912710

Orientation

minus

Stabilized

minus

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

Make rs121912710(G;G)

Reference

GRCh38 38.1/141

Chromosome

5

Position

126552114

Gene

ALDH7A1

is a	snp
is	mentioned by
dbSNP	rs121912710
dbSNP (classic)	rs121912710
ClinGen	rs121912710
ebi	rs121912710
HLI	rs121912710
Exac	rs121912710
Gnomad	rs121912710
Varsome	rs121912710
LitVar	rs121912710
Map	rs121912710
PheGenI	rs121912710
Biobank	rs121912710
1000 genomes	rs121912710
hgdp	rs121912710
ensembl	rs121912710
geneview	rs121912710
scholar	rs121912710
google	rs121912710
pharmgkb	rs121912710
gwascentral	rs121912710
openSNP	rs121912710
23andMe	rs121912710
SNPshot	rs121912710
SNPdbe	rs121912710
MSV3d	rs121912710
GWAS Ctlg	rs121912710

Max Magnitude

3

OMIM	107323
Desc
Variant	0007
Related	also

ClinVar
Risk	rs121912710(C;C) rs121912710(G;G)
Alt	rs121912710(C;C) rs121912710(G;G)
Reference	Rs121912710(T;T)
Significance	Pathogenic
Disease	Pyridoxine-dependent epilepsy not provided
Variation	info
Gene	ALDH7A1
CLNDBN	Pyridoxine-dependent epilepsy not provided
Reversed	1
HGVS	NC_000005.9:g.125887806A>C; NC_000005.9:g.125887806A>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000019616.27, RCV000255947.1, RCV000464392.1,