rs3765310

plus

Geno	Mag	Summary
(C;C)	0	common in complete genomics
(C;T)		Excess GHB in blood

Make rs3765310(T;T)

Reference

GRCh38 38.1/141

Chromosome

6

Position

24503369

Gene

ALDH5A1

is a	snp
is	mentioned by
dbSNP	rs3765310
dbSNP (classic)	rs3765310
ClinGen	rs3765310
ebi	rs3765310
HLI	rs3765310
Exac	rs3765310
Gnomad	rs3765310
Varsome	rs3765310
LitVar	rs3765310
Map	rs3765310
PheGenI	rs3765310
Biobank	rs3765310
1000 genomes	rs3765310
hgdp	rs3765310
ensembl	rs3765310
geneview	rs3765310
scholar	rs3765310
google	rs3765310
pharmgkb	rs3765310
gwascentral	rs3765310
openSNP	rs3765310
23andMe	rs3765310
SNPshot	rs3765310
SNPdbe	rs3765310
MSV3d	rs3765310
GWAS Ctlg	rs3765310

GMAF

0.045

Max Magnitude

0

?

(C;C) (C;T) (T;T)

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 (48% 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	rs3765310(A;A) rs3765310(T;T)
Alt	rs3765310(A;A) rs3765310(T;T)
Reference	Rs3765310(C;C)
Significance	Other
Disease	not specified Succinate-semialdehyde dehydrogenase deficiency
Variation	info
Gene	ALDH5A1
CLNDBN	not specified Succinate-semialdehyde dehydrogenase deficiency
Reversed	0
HGVS	NC_000006.11:g.24503597C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000116308.3, RCV000280693.1,