SLC33A1, solute carrier family 33 member 1, 9197

N. diseases: 170; N. variants: 7
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909484
rs121909484
Entrez Id: 9197;105374174
Gene Symbol: SLC33A1;LOC105374174
SLC33A1;LOC105374174
CUI: C2675528
Disease:
Spastic Paraplegia 42, Autosomal Dominant 		0.800 GeneticVariation UNIPROT Identification and functional analysis of a SLC33A1: c.339T>G (p.Ser113Arg) variant in the original SPG42 family. 25402622 2015
dbSNP: rs281875283
rs281875283
Entrez Id: 9197;105374174
Gene Symbol: SLC33A1;LOC105374174
SLC33A1;LOC105374174
CUI: C3280965
Disease:
CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION 		G 0.800 CausalMutation CLINVAR Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin. 22243965 2012
dbSNP: rs281875283
rs281875283
Entrez Id: 9197;105374174
Gene Symbol: SLC33A1;LOC105374174
SLC33A1;LOC105374174
CUI: C3280965
Disease:
CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION 		0.800 GeneticVariation UNIPROT Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin. 22243965 2012
dbSNP: rs121909484
rs121909484
Entrez Id: 9197;105374174
Gene Symbol: SLC33A1;LOC105374174
SLC33A1;LOC105374174
CUI: C2675528
Disease:
Spastic Paraplegia 42, Autosomal Dominant 		0.800 GeneticVariation UNIPROT A missense mutation in SLC33A1, which encodes the acetyl-CoA transporter, causes autosomal-dominant spastic paraplegia (SPG42). 19061983 2008
dbSNP: rs121909484
rs121909484
Entrez Id: 9197;105374174
Gene Symbol: SLC33A1;LOC105374174
SLC33A1;LOC105374174
CUI: C2675528
Disease:
Spastic Paraplegia 42, Autosomal Dominant 		C 0.800 CausalMutation CLINVAR
dbSNP: rs112013645
rs112013645
Entrez Id: 9197
Gene Symbol: SLC33A1
SLC33A1
CUI: C0596887
Disease:
mathematical ability 		C 0.700 GeneticVariation GWASCAT Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals. 30038396 2018
dbSNP: rs112013645
rs112013645
Entrez Id: 9197
Gene Symbol: SLC33A1
SLC33A1
CUI: C0596887
Disease:
mathematical ability 		T 0.700 GeneticVariation GWASCAT Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals. 30038396 2018
dbSNP: rs1991545
rs1991545
Entrez Id: 9197
Gene Symbol: SLC33A1
SLC33A1
CUI: C0014547
Disease:
Epilepsies, Partial 		A 0.700 GeneticVariation GWASCAT Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies. 30531953 2018
dbSNP: rs382534
rs382534
Entrez Id: 9197
Gene Symbol: SLC33A1
SLC33A1
CUI: C0202236
Disease:
Triglycerides measurement 		T 0.700 GeneticVariation GWASCAT Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program. 30275531 2018
dbSNP: rs390677
rs390677
Entrez Id: 9197
Gene Symbol: SLC33A1
SLC33A1
CUI: C0596887
Disease:
mathematical ability 		T 0.700 GeneticVariation GWASCAT Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals. 30038396 2018
dbSNP: rs863223316
rs863223316
Entrez Id: 9197;105374174
Gene Symbol: SLC33A1;LOC105374174
SLC33A1;LOC105374174
CUI: C3280965
Disease:
CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION 		TA 0.700 CausalMutation CLINVAR