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rs2760118

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs2760118(A;A)
Make rs2760118(A;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position24503362
GeneALDH5A1
is asnp
is mentioned by
dbSNPrs2760118
ebirs2760118
HLIrs2760118
Exacrs2760118
Varsomers2760118
Maprs2760118
PheGenIrs2760118
hapmaprs2760118
1000 genomesrs2760118
hgdprs2760118
ensemblrs2760118
gopubmedrs2760118
geneviewrs2760118
scholarrs2760118
googlers2760118
pharmgkbrs2760118
gwascentralrs2760118
openSNPrs2760118
23andMers2760118
23andMe allrs2760118
SNP Nexus

SNPshotrs2760118
SNPdbers2760118
MSV3drs2760118
GWAS Ctlgrs2760118
GMAF0.3067
Max Magnitude0
? (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 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-H180Y
aa_change His180Tyr
aa_change_short H180Y
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.373675
summary



ClinVar
Risk rs2760118(A;A)
Alt rs2760118(A;A)
Reference rs2760118(G;G)
Significance Probable-non-pathogenic
Disease not specified
Variation info
Gene ALDH5A1
CLNDBN not specified
Reversed 1
HGVS NC_000006.11:g.24503590C>T
CLNSRC ClinVar University of Chicago
CLNACC RCV000116307.2,