rs140102105

Orientation

plus

Stabilized

plus

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

Make rs140102105(G;G)

Reference

GRCh38.p7 38.3/149

Chromosome

5

Position

126577200

Gene

ALDH7A1

is a	snp
is	mentioned by
dbSNP	rs140102105
dbSNP (classic)	rs140102105
ClinGen	rs140102105
ebi	rs140102105
HLI	rs140102105
Exac	rs140102105
Gnomad	rs140102105
Varsome	rs140102105
LitVar	rs140102105
Map	rs140102105
PheGenI	rs140102105
Biobank	rs140102105
1000 genomes	rs140102105
hgdp	rs140102105
ensembl	rs140102105
geneview	rs140102105
scholar	rs140102105
google	rs140102105
pharmgkb	rs140102105
gwascentral	rs140102105
openSNP	rs140102105
23andMe	rs140102105
SNPshot	rs140102105
SNPdbe	rs140102105
MSV3d	rs140102105
GWAS Ctlg	rs140102105

Max Magnitude

3

ClinVar
Risk	rs140102105(G;G)
Alt	rs140102105(G;G)
Reference	Rs140102105(C;C)
Significance	Probable-Pathogenic
Disease	not provided
Variation	info
Gene	ALDH7A1
CLNDBN	not provided
Reversed	0
HGVS	NC_000005.9:g.125912892C>G
CLNSRC
CLNACC	RCV000255047.1,