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rs3765310

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
(C;T) Excess GHB in blood
Make rs3765310(T;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position24503369
GeneALDH5A1
is asnp
is mentioned by
dbSNPrs3765310
ebirs3765310
HLIrs3765310
Exacrs3765310
Varsomers3765310
Maprs3765310
PheGenIrs3765310
hapmaprs3765310
1000 genomesrs3765310
hgdprs3765310
ensemblrs3765310
gopubmedrs3765310
geneviewrs3765310
scholarrs3765310
googlers3765310
pharmgkbrs3765310
gwascentralrs3765310
openSNPrs3765310
23andMers3765310
23andMe allrs3765310
SNP Nexus

SNPshotrs3765310
SNPdbers3765310
MSV3drs3765310
GWAS Ctlgrs3765310
GMAF0.045
Max Magnitude0
? (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 15514892OA-icon.png] A 77-kilobase region of chromosome 6p22.2 is associated with dyslexia in families from the United Kingdom and from the United States.


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


GET Evidence
ALDH5A1-P182L
aa_change Pro182Leu
aa_change_short P182L
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.026213
summary



ClinVar
Risk rs3765310(T;T)
Alt rs3765310(T;T)
Reference rs3765310(C;C)
Significance Probable-non-pathogenic
Disease not specified
Variation info
Gene ALDH5A1
CLNDBN not specified
Reversed 0
HGVS NC_000006.11:g.24503597C>T
CLNSRC ClinVar University of Chicago
CLNACC RCV000116308.2,