rs3765310
From SNPedia
Orientation | plus |
Stabilized | 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 |
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, |