rs2760118

minus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs2760118(A;A)

Make rs2760118(A;G)

Reference

GRCh38 38.1/141

Chromosome

6

Position

24503362

Gene

ALDH5A1

is a	snp
is	mentioned by
dbSNP	rs2760118
dbSNP (classic)	rs2760118
ClinGen	rs2760118
ebi	rs2760118
HLI	rs2760118
Exac	rs2760118
Gnomad	rs2760118
Varsome	rs2760118
LitVar	rs2760118
Map	rs2760118
PheGenI	rs2760118
Biobank	rs2760118
1000 genomes	rs2760118
hgdp	rs2760118
ensembl	rs2760118
geneview	rs2760118
scholar	rs2760118
google	rs2760118
pharmgkb	rs2760118
gwascentral	rs2760118
openSNP	rs2760118
23andMe	rs2760118
SNPshot	rs2760118
SNPdbe	rs2760118
MSV3d	rs2760118
GWAS Ctlg	rs2760118

GMAF

0.3067

Max Magnitude

0

?

(A;A) (A;G) (G;G)

28

Mutational spectrum of the succinate semialdehyde dehydrogenase (ALDH5A1) gene and functional analysis of 27 novel disease-causing mutations in patients with SSADH deficiency.[PMID 14635103] Reduced SSADH activity with T variant (83% of normal).

[PMID 15514892 ] A 77-kilobase region of chromosome 6p22.2 is associated with dyslexia in families from the United Kingdom and from the United States.

[PMID 19164088 ] Comparative genomics of aldehyde dehydrogenase 5a1 (succinate semialdehyde dehydrogenase) and accumulation of gamma-hydroxybutyrate associated with its deficiency.

ClinVar
Risk	rs2760118(A;A)
Alt	rs2760118(A;A)
Reference	Rs2760118(G;G)
Significance	Other
Disease	not specified Succinate-semialdehyde dehydrogenase deficiency
Variation	info
Gene	ALDH5A1
CLNDBN	not specified Succinate-semialdehyde dehydrogenase deficiency
Reversed	1
HGVS	NC_000006.11:g.24503590C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000116307.3, RCV000375656.1,