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: rs118203984
rs118203984
Entrez Id: 7915
Gene Symbol: ALDH5A1
ALDH5A1
CUI: C0268631
Disease:
succinic semialdehyde dehydrogenase deficiency 		0.800 GeneticVariation UNIPROT Prenatal diagnosis of succinic semialdehyde dehydrogenase deficiency: increased accuracy employing DNA, enzyme, and metabolite analyses. 11243727 2001
dbSNP: rs375628463
rs375628463
Entrez Id: 7915
Gene Symbol: ALDH5A1
ALDH5A1
CUI: C0268631
Disease:
succinic semialdehyde dehydrogenase deficiency 		A 0.800 CausalMutation CLINVAR Prenatal diagnosis of succinic semialdehyde dehydrogenase deficiency: increased accuracy employing DNA, enzyme, and metabolite analyses. 11243727 2001
dbSNP: rs765561257
rs765561257
Entrez Id: 2822;7915
Gene Symbol: GPLD1;ALDH5A1
GPLD1;ALDH5A1
CUI: C0268631
Disease:
succinic semialdehyde dehydrogenase deficiency 		0.800 GeneticVariation UNIPROT Prenatal diagnosis of succinic semialdehyde dehydrogenase deficiency: increased accuracy employing DNA, enzyme, and metabolite analyses. 11243727 2001
dbSNP: rs118203982
rs118203982
Entrez Id: 7915
Gene Symbol: ALDH5A1
ALDH5A1
CUI: C0268631
Disease:
succinic semialdehyde dehydrogenase deficiency 		A 0.700 CausalMutation CLINVAR Prenatal diagnosis of succinic semialdehyde dehydrogenase deficiency: increased accuracy employing DNA, enzyme, and metabolite analyses. 11243727 2001
dbSNP: rs145087265
rs145087265
Entrez Id: 7915
Gene Symbol: ALDH5A1
ALDH5A1
CUI: C0268631
Disease:
succinic semialdehyde dehydrogenase deficiency 		0.700 GeneticVariation UNIPROT Prenatal diagnosis of succinic semialdehyde dehydrogenase deficiency: increased accuracy employing DNA, enzyme, and metabolite analyses. 11243727 2001
dbSNP: rs72552281
rs72552281
Entrez Id: 7915
Gene Symbol: ALDH5A1
ALDH5A1
CUI: C0268631
Disease:
succinic semialdehyde dehydrogenase deficiency 		0.700 GeneticVariation UNIPROT Prenatal diagnosis of succinic semialdehyde dehydrogenase deficiency: increased accuracy employing DNA, enzyme, and metabolite analyses. 11243727 2001
dbSNP: rs72552282
rs72552282
Entrez Id: 7915
Gene Symbol: ALDH5A1
ALDH5A1
CUI: C0268631
Disease:
succinic semialdehyde dehydrogenase deficiency 		0.700 GeneticVariation UNIPROT Prenatal diagnosis of succinic semialdehyde dehydrogenase deficiency: increased accuracy employing DNA, enzyme, and metabolite analyses. 11243727 2001
dbSNP: rs72552283
rs72552283
Entrez Id: 7915
Gene Symbol: ALDH5A1
ALDH5A1
CUI: C0268631
Disease:
succinic semialdehyde dehydrogenase deficiency 		0.700 GeneticVariation UNIPROT Prenatal diagnosis of succinic semialdehyde dehydrogenase deficiency: increased accuracy employing DNA, enzyme, and metabolite analyses. 11243727 2001
dbSNP: rs72552284
rs72552284
Entrez Id: 7915
Gene Symbol: ALDH5A1
ALDH5A1
CUI: C0268631
Disease:
succinic semialdehyde dehydrogenase deficiency 		0.700 GeneticVariation UNIPROT Prenatal diagnosis of succinic semialdehyde dehydrogenase deficiency: increased accuracy employing DNA, enzyme, and metabolite analyses. 11243727 2001
dbSNP: rs118203984
rs118203984
Entrez Id: 7915
Gene Symbol: ALDH5A1
ALDH5A1
CUI: C0268631
Disease:
succinic semialdehyde dehydrogenase deficiency 		0.800 GeneticVariation UNIPROT Mutation analysis in a patient with succinic semialdehyde dehydrogenase deficiency: a compound heterozygote with 103-121del and 1460T > A of the ALDH5A1 gene. 11901270 2002
dbSNP: rs765561257
rs765561257
Entrez Id: 2822;7915
Gene Symbol: GPLD1;ALDH5A1
GPLD1;ALDH5A1
CUI: C0268631
Disease:
succinic semialdehyde dehydrogenase deficiency 		0.800 GeneticVariation UNIPROT Mutation analysis in a patient with succinic semialdehyde dehydrogenase deficiency: a compound heterozygote with 103-121del and 1460T > A of the ALDH5A1 gene. 11901270 2002