Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs375628463
rs375628463
Entrez Id: 7915
Gene Symbol: ALDH5A1
ALDH5A1
CUI: C0268631
Disease:
succinic semialdehyde dehydrogenase deficiency 		A 0.800 GeneticVariation CLINVAR
dbSNP: rs765561257
rs765561257
Entrez Id: 2822;7915
Gene Symbol: GPLD1;ALDH5A1
GPLD1;ALDH5A1
CUI: C0268631
Disease:
succinic semialdehyde dehydrogenase deficiency 		T 0.800 CausalMutation CLINVAR
dbSNP: rs118203983
rs118203983
Entrez Id: 7915
Gene Symbol: ALDH5A1
ALDH5A1
CUI: C0268631
Disease:
succinic semialdehyde dehydrogenase deficiency 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1301821497
rs1301821497
Entrez Id: 7915
Gene Symbol: ALDH5A1
ALDH5A1
CUI: C0268631
Disease:
succinic semialdehyde dehydrogenase deficiency 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1326526453
rs1326526453
Entrez Id: 7915
Gene Symbol: ALDH5A1
ALDH5A1
CUI: C0268631
Disease:
succinic semialdehyde dehydrogenase deficiency 		0.700 GeneticVariation UNIPROT
dbSNP: rs1561865665
rs1561865665
Entrez Id: 2822;7915
Gene Symbol: GPLD1;ALDH5A1
GPLD1;ALDH5A1
CUI: C0268631
Disease:
succinic semialdehyde dehydrogenase deficiency 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1561872640
rs1561872640
Entrez Id: 7915
Gene Symbol: ALDH5A1
ALDH5A1
CUI: C0268631
Disease:
succinic semialdehyde dehydrogenase deficiency 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1561879380
rs1561879380
Entrez Id: 7915
Gene Symbol: ALDH5A1
ALDH5A1
CUI: C0268631
Disease:
succinic semialdehyde dehydrogenase deficiency 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1561879380
rs1561879380
Entrez Id: 7915
Gene Symbol: ALDH5A1
ALDH5A1
CUI: C0268631
Disease:
succinic semialdehyde dehydrogenase deficiency 		T 0.700 CausalMutation CLINVAR
dbSNP: rs778127154
rs778127154
Entrez Id: 7915
Gene Symbol: ALDH5A1
ALDH5A1
CUI: C0268631
Disease:
succinic semialdehyde dehydrogenase deficiency 		C 0.700 CausalMutation CLINVAR
dbSNP: rs875989801
rs875989801
Entrez Id: 7915
Gene Symbol: ALDH5A1
ALDH5A1
CUI: C0268631
Disease:
succinic semialdehyde dehydrogenase deficiency 		TT 0.700 CausalMutation CLINVAR
dbSNP: rs778127154
rs778127154
Entrez Id: 7915
Gene Symbol: ALDH5A1
ALDH5A1
CUI: C0026650
Disease:
Movement Disorders 		C 0.700 CausalMutation CLINVAR 4-Hydroxybutyric aciduria. 7726383 1994
dbSNP: rs778127154
rs778127154
Entrez Id: 7915
Gene Symbol: ALDH5A1
ALDH5A1
CUI: C0026827
Disease:
Muscle hypotonia 		C 0.700 CausalMutation CLINVAR 4-Hydroxybutyric aciduria. 7726383 1994
dbSNP: rs778127154
rs778127154
Entrez Id: 7915
Gene Symbol: ALDH5A1
ALDH5A1
CUI: C1849265
Disease:
Overgrowth 		C 0.700 CausalMutation CLINVAR 4-Hydroxybutyric aciduria. 7726383 1994
dbSNP: rs778127154
rs778127154
Entrez Id: 7915
Gene Symbol: ALDH5A1
ALDH5A1
CUI: C0026827
Disease:
Muscle hypotonia 		C 0.700 CausalMutation CLINVAR Acute Infantile Encephalopathy as Presentation of Succinic Semialdehyde Dehydrogenase Deficiency. 27268762 2016
dbSNP: rs778127154
rs778127154
Entrez Id: 7915
Gene Symbol: ALDH5A1
ALDH5A1
CUI: C0026650
Disease:
Movement Disorders 		C 0.700 CausalMutation CLINVAR Acute Infantile Encephalopathy as Presentation of Succinic Semialdehyde Dehydrogenase Deficiency. 27268762 2016
dbSNP: rs778127154
rs778127154
Entrez Id: 7915
Gene Symbol: ALDH5A1
ALDH5A1
CUI: C1849265
Disease:
Overgrowth 		C 0.700 CausalMutation CLINVAR Acute Infantile Encephalopathy as Presentation of Succinic Semialdehyde Dehydrogenase Deficiency. 27268762 2016
dbSNP: rs118203984
rs118203984
Entrez Id: 7915
Gene Symbol: ALDH5A1
ALDH5A1
CUI: C0268631
Disease:
succinic semialdehyde dehydrogenase deficiency 		0.800 GeneticVariation UNIPROT Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. 23519317 2013
dbSNP: rs375628463
rs375628463
Entrez Id: 7915
Gene Symbol: ALDH5A1
ALDH5A1
CUI: C0268631
Disease:
succinic semialdehyde dehydrogenase deficiency 		0.800 GeneticVariation UNIPROT Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. 23519317 2013
dbSNP: rs765561257
rs765561257
Entrez Id: 2822;7915
Gene Symbol: GPLD1;ALDH5A1
GPLD1;ALDH5A1
CUI: C0268631
Disease:
succinic semialdehyde dehydrogenase deficiency 		0.800 GeneticVariation UNIPROT Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. 23519317 2013
dbSNP: rs778127154
rs778127154
Entrez Id: 7915
Gene Symbol: ALDH5A1
ALDH5A1
CUI: C1849265
Disease:
Overgrowth 		C 0.700 CausalMutation CLINVAR Clinical spectrum of succinic semialdehyde dehydrogenase deficiency. 12743223 2003
dbSNP: rs778127154
rs778127154
Entrez Id: 7915
Gene Symbol: ALDH5A1
ALDH5A1
CUI: C0026650
Disease:
Movement Disorders 		C 0.700 CausalMutation CLINVAR Clinical spectrum of succinic semialdehyde dehydrogenase deficiency. 12743223 2003
dbSNP: rs778127154
rs778127154
Entrez Id: 7915
Gene Symbol: ALDH5A1
ALDH5A1
CUI: C0026827
Disease:
Muscle hypotonia 		C 0.700 CausalMutation CLINVAR Clinical spectrum of succinic semialdehyde dehydrogenase deficiency. 12743223 2003
dbSNP: rs150674717
rs150674717
Entrez Id: 7915
Gene Symbol: ALDH5A1
ALDH5A1
CUI: C0201850
Disease:
Alkaline phosphatase measurement 		0.700 GeneticVariation GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010 2018
dbSNP: rs778127154
rs778127154
Entrez Id: 7915
Gene Symbol: ALDH5A1
ALDH5A1
CUI: C1849265
Disease:
Overgrowth 		C 0.700 CausalMutation CLINVAR Inherited disorders of neurotransmitters in children and adults. 16298354 2005