APOA1, apolipoprotein A1, 335

N. diseases: 416; N. variants: 32
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs12721025
rs12721025
Entrez Id: 335;104326055
Gene Symbol: APOA1;APOA1-AS
APOA1;APOA1-AS
CUI: C0700639
Disease:
Pyloric Stenosis, Hypertrophic 		A 0.800 GeneticVariation GWASCAT Genome-wide meta-analysis identifies BARX1 and EML4-MTA3 as new loci associated with infantile hypertrophic pyloric stenosis. 30281099 2019
dbSNP: rs12721025
rs12721025
Entrez Id: 335;104326055
Gene Symbol: APOA1;APOA1-AS
APOA1;APOA1-AS
CUI: C0700639
Disease:
Pyloric Stenosis, Hypertrophic 		A 0.800 GeneticVariation GWASDB Plasma lipids, genetic variants near APOA1, and the risk of infantile hypertrophic pyloric stenosis. 23989729 2013
dbSNP: rs12721025
rs12721025
Entrez Id: 335;104326055
Gene Symbol: APOA1;APOA1-AS
APOA1;APOA1-AS
CUI: C0700639
Disease:
Pyloric Stenosis, Hypertrophic 		A 0.800 GeneticVariation GWASCAT Plasma lipids, genetic variants near APOA1, and the risk of infantile hypertrophic pyloric stenosis. 23989729 2013
dbSNP: rs121912724
rs121912724
Entrez Id: 335;104326055
Gene Symbol: APOA1;APOA1-AS
APOA1;APOA1-AS
CUI: C0268389
Disease:
Amyloidosis, familial visceral 		0.800 GeneticVariation UNIPROT Familial nephropathic systemic amyloidosis caused by apolipoprotein AI variant Arg26. 8208902 1994
dbSNP: rs121912724
rs121912724
Entrez Id: 335;104326055
Gene Symbol: APOA1;APOA1-AS
APOA1;APOA1-AS
CUI: C0268389
Disease:
Amyloidosis, familial visceral 		0.800 GeneticVariation UNIPROT Apolipoprotein AI mutation Arg-60 causes autosomal dominant amyloidosis. 1502149 1992
dbSNP: rs121912724
rs121912724
Entrez Id: 335;104326055
Gene Symbol: APOA1;APOA1-AS
APOA1;APOA1-AS
CUI: C0268389
Disease:
Amyloidosis, familial visceral 		0.800 GeneticVariation UNIPROT A mutation in apolipoprotein A-I in the Iowa type of familial amyloidotic polyneuropathy. 2123470 1990
dbSNP: rs121912724
rs121912724
Entrez Id: 335;104326055
Gene Symbol: APOA1;APOA1-AS
APOA1;APOA1-AS
CUI: C0268389
Disease:
Amyloidosis, familial visceral 		0.800 GeneticVariation UNIPROT Variant apolipoprotein AI as a major constituent of a human hereditary amyloid. 3142462 1988
dbSNP: rs121912724
rs121912724
Entrez Id: 335;104326055
Gene Symbol: APOA1;APOA1-AS
APOA1;APOA1-AS
CUI: C0268389
Disease:
Amyloidosis, familial visceral 		C 0.800 CausalMutation CLINVAR
dbSNP: rs12718465
rs12718465
Entrez Id: 335;104326055
Gene Symbol: APOA1;APOA1-AS
APOA1;APOA1-AS
CUI: C0392885
Disease:
High density lipoprotein measurement 		0.700 GeneticVariation GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010 2018
dbSNP: rs670
rs670
Entrez Id: 335;104326055
Gene Symbol: APOA1;APOA1-AS
APOA1;APOA1-AS
CUI: C2985280
Disease:
Blood Protein Measurement 		T 0.700 GeneticVariation GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
dbSNP: rs7116797
rs7116797
Entrez Id: 335;104326055
Gene Symbol: APOA1;APOA1-AS
APOA1;APOA1-AS
CUI: C0871470
Disease:
Systolic Pressure 		A 0.700 GeneticVariation GWASCAT Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation. 27841878 2017
dbSNP: rs7116797
rs7116797
Entrez Id: 335;104326055
Gene Symbol: APOA1;APOA1-AS
APOA1;APOA1-AS
CUI: C0428883
Disease:
Diastolic blood pressure 		A 0.700 GeneticVariation GWASCAT Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation. 27841878 2017
dbSNP: rs2070665
rs2070665
Entrez Id: 335;104326055
Gene Symbol: APOA1;APOA1-AS
APOA1;APOA1-AS
CUI: C0523465
Disease:
Serum albumin measurement 		0.700 GeneticVariation GWASDB Genome-wide association study identifies multiple loci influencing human serum metabolite levels. 22286219 2012
dbSNP: rs5072
rs5072
Entrez Id: 335;104326055
Gene Symbol: APOA1;APOA1-AS
APOA1;APOA1-AS
CUI: C1445957
Disease:
Serum total cholesterol measurement 		0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs5072
rs5072
Entrez Id: 335;104326055
Gene Symbol: APOA1;APOA1-AS
APOA1;APOA1-AS
CUI: C0523465
Disease:
Serum albumin measurement 		0.700 GeneticVariation GWASDB Genome-wide association study identifies multiple loci influencing human serum metabolite levels. 22286219 2012
dbSNP: rs5072
rs5072
Entrez Id: 335;104326055
Gene Symbol: APOA1;APOA1-AS
APOA1;APOA1-AS
CUI: C0202236
Disease:
Triglycerides measurement 		0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs28931574
rs28931574
Entrez Id: 335;104326055
Gene Symbol: APOA1;APOA1-AS
APOA1;APOA1-AS
CUI: C0268389
Disease:
Amyloidosis, familial visceral 		0.700 GeneticVariation UNIPROT Familial nephropathic systemic amyloidosis caused by apolipoprotein AI variant Arg26. 8208902 1994
dbSNP: rs28931574
rs28931574
Entrez Id: 335;104326055
Gene Symbol: APOA1;APOA1-AS
APOA1;APOA1-AS
CUI: C0268389
Disease:
Amyloidosis, familial visceral 		0.700 GeneticVariation UNIPROT Apolipoprotein AI mutation Arg-60 causes autosomal dominant amyloidosis. 1502149 1992
dbSNP: rs28931574
rs28931574
Entrez Id: 335;104326055
Gene Symbol: APOA1;APOA1-AS
APOA1;APOA1-AS
CUI: C0268389
Disease:
Amyloidosis, familial visceral 		0.700 GeneticVariation UNIPROT A mutation in apolipoprotein A-I in the Iowa type of familial amyloidotic polyneuropathy. 2123470 1990
dbSNP: rs28931574
rs28931574
Entrez Id: 335;104326055
Gene Symbol: APOA1;APOA1-AS
APOA1;APOA1-AS
CUI: C0268389
Disease:
Amyloidosis, familial visceral 		0.700 GeneticVariation UNIPROT Variant apolipoprotein AI as a major constituent of a human hereditary amyloid. 3142462 1988
dbSNP: rs121912716
rs121912716
Entrez Id: 335;104326055
Gene Symbol: APOA1;APOA1-AS
APOA1;APOA1-AS
CUI: C4015831
Disease:
APOLIPOPROTEIN A-I (MARBURG) PHENOTYPE 		A 0.700 CausalMutation CLINVAR
dbSNP: rs121912717
rs121912717
Entrez Id: 335;104326055
Gene Symbol: APOA1;APOA1-AS
APOA1;APOA1-AS
CUI: C4015832
Disease:
APOLIPOPROTEIN A-I (MUNSTER4) PHENOTYPE 		T 0.700 CausalMutation CLINVAR
dbSNP: rs121912718
rs121912718
Entrez Id: 335;104326055
Gene Symbol: APOA1;APOA1-AS
APOA1;APOA1-AS
CUI: C4017713
Disease:
APOLIPOPROTEIN A-I (NORWAY) PHENOTYPE 		T 0.700 CausalMutation CLINVAR
dbSNP: rs121912719
rs121912719
Entrez Id: 335;104326055
Gene Symbol: APOA1;APOA1-AS
APOA1;APOA1-AS
CUI: C4015833
Disease:
APOLIPOPROTEIN A-I (GIESSEN) PHENOTYPE 		C 0.700 CausalMutation CLINVAR
dbSNP: rs121912720
rs121912720
Entrez Id: 335;104326055
Gene Symbol: APOA1;APOA1-AS
APOA1;APOA1-AS
CUI: C4015834
Disease:
APOLIPOPROTEIN A-I (MUNSTER3C) PHENOTYPE 		C 0.700 CausalMutation CLINVAR