Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434583
rs121434583
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
CUI: C0268354
Disease:
De Barsy syndrome
A 0.800 CausalMutation CLINVAR
dbSNP: rs752669339
rs752669339
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
CUI: C4225272
Disease:
SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE
G 0.800 CausalMutation CLINVAR
dbSNP: rs752669339
rs752669339
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
CUI: C4225272
Disease:
SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE
0.800 GeneticVariation UNIPROT
dbSNP: rs766264810
rs766264810
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
CUI: C1832669
Disease:
SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT (disorder)
A 0.800 CausalMutation CLINVAR
dbSNP: rs766264810
rs766264810
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
CUI: C1832669
Disease:
SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT (disorder)
0.800 GeneticVariation UNIPROT
dbSNP: rs774047299
rs774047299
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
CUI: C0268354
Disease:
De Barsy syndrome
0.800 GeneticVariation UNIPROT
dbSNP: rs774047299
rs774047299
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
CUI: C0268354
Disease:
De Barsy syndrome
C 0.800 CausalMutation CLINVAR
dbSNP: rs863224945
rs863224945
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
CUI: C1832669
Disease:
SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT (disorder)
0.800 GeneticVariation UNIPROT
dbSNP: rs863224945
rs863224945
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
CUI: C1832669
Disease:
SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT (disorder)
G 0.800 CausalMutation CLINVAR
dbSNP: rs863225044
rs863225044
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
CUI: C4225268
Disease:
CUTIS LAXA, AUTOSOMAL DOMINANT 3
0.800 GeneticVariation UNIPROT
dbSNP: rs863225044
rs863225044
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
CUI: C4225268
Disease:
CUTIS LAXA, AUTOSOMAL DOMINANT 3
A 0.800 CausalMutation CLINVAR
dbSNP: rs863225045
rs863225045
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
CUI: C4225268
Disease:
CUTIS LAXA, AUTOSOMAL DOMINANT 3
A 0.800 CausalMutation CLINVAR
dbSNP: rs863225045
rs863225045
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
CUI: C4225268
Disease:
CUTIS LAXA, AUTOSOMAL DOMINANT 3
0.800 GeneticVariation UNIPROT
dbSNP: rs863225045
rs863225045
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
CUI: C4225268
Disease:
CUTIS LAXA, AUTOSOMAL DOMINANT 3
T 0.800 CausalMutation CLINVAR
dbSNP: rs864321669
rs864321669
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
CUI: C1832669
Disease:
SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT (disorder)
G 0.800 CausalMutation CLINVAR
dbSNP: rs869320690
rs869320690
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
CUI: C4225272
Disease:
SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE
G 0.800 CausalMutation CLINVAR
dbSNP: rs1555262375
rs1555262375
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
CUI: C0268354
Disease:
De Barsy syndrome
T 0.700 CausalMutation CLINVAR
dbSNP: rs1555264243
rs1555264243
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
CUI: C0268354
Disease:
De Barsy syndrome
A 0.700 GeneticVariation CLINVAR
dbSNP: rs2275272
rs2275272
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
CUI: C0268354
Disease:
De Barsy syndrome
0.700 GeneticVariation UNIPROT
dbSNP: rs537043237
rs537043237
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
CUI: C0268354
Disease:
De Barsy syndrome
T 0.700 GeneticVariation CLINVAR
dbSNP: rs587777858
rs587777858
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
CUI: C0268354
Disease:
De Barsy syndrome
A 0.700 CausalMutation CLINVAR
dbSNP: rs762271422
rs762271422
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
CUI: C1849115
Disease:
SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE (disorder)
C 0.700 GeneticVariation CLINVAR
dbSNP: rs762742204
rs762742204
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
CUI: C0268354
Disease:
De Barsy syndrome
A 0.700 GeneticVariation CLINVAR
dbSNP: rs863223315
rs863223315
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
CUI: C0268354
Disease:
De Barsy syndrome
T 0.700 CausalMutation CLINVAR
dbSNP: rs863225045
rs863225045
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
CUI: C3840083
Disease:
Late closure of anterior fontanel
A 0.700 CausalMutation CLINVAR