rs1060499755

Orientation

minus

Stabilized

minus

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

Make rs1060499755(G;G)

Reference

GRCh38.p7 38.3/150

Chromosome

5

Position

126577158

Gene

ALDH7A1

is a	snp
is	mentioned by
dbSNP	rs1060499755
dbSNP (classic)	rs1060499755
ClinGen	rs1060499755
ebi	rs1060499755
HLI	rs1060499755
Exac	rs1060499755
Gnomad	rs1060499755
Varsome	rs1060499755
LitVar	rs1060499755
Map	rs1060499755
PheGenI	rs1060499755
Biobank	rs1060499755
1000 genomes	rs1060499755
hgdp	rs1060499755
ensembl	rs1060499755
geneview	rs1060499755
scholar	rs1060499755
google	rs1060499755
pharmgkb	rs1060499755
gwascentral	rs1060499755
openSNP	rs1060499755
23andMe	rs1060499755
SNPshot	rs1060499755
SNPdbe	rs1060499755
MSV3d	rs1060499755
GWAS Ctlg	rs1060499755

Max Magnitude

3

ClinVar
Risk	rs1060499755(G;G)
Alt	rs1060499755(G;G)
Reference	Rs1060499755(A;A)
Significance	Probable-Pathogenic
Disease	Abnormality of brain morphology
Variation	info
Gene	ALDH7A1
CLNDBN	Abnormality of brain morphology
Reversed	1
HGVS	NC_000005.9:g.125912850T>C
CLNSRC
CLNACC	RCV000454207.1,