Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912724
rs121912724
APOA1 ; APOA1-AS
CUI: C0268389
Disease: Amyloidosis, familial visceral
Amyloidosis, familial visceral 		0.800 GeneticVariation UNIPROT Familial nephropathic systemic amyloidosis caused by apolipoprotein AI variant Arg26. 8208902

1994
dbSNP: rs121912724
rs121912724
APOA1 ; APOA1-AS
CUI: C0268389
Disease: Amyloidosis, familial visceral
Amyloidosis, familial visceral 		0.800 GeneticVariation UNIPROT Apolipoprotein AI mutation Arg-60 causes autosomal dominant amyloidosis. 1502149

1992
dbSNP: rs121912724
rs121912724
APOA1 ; APOA1-AS
CUI: C0268389
Disease: Amyloidosis, familial visceral
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
APOA1 ; APOA1-AS
CUI: C0268389
Disease: Amyloidosis, familial visceral
Amyloidosis, familial visceral 		0.800 GeneticVariation UNIPROT Variant apolipoprotein AI as a major constituent of a human hereditary amyloid. 3142462

1988
dbSNP: rs121912724
rs121912724
APOA1 ; APOA1-AS
CUI: C0268389
Disease: Amyloidosis, familial visceral
Amyloidosis, familial visceral 		C 0.800 CausalMutation CLINVAR

dbSNP: rs12721025
rs12721025
APOA1 ; APOA1-AS
CUI: C0700639
Disease: Pyloric Stenosis, Hypertrophic
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
APOA1 ; APOA1-AS
CUI: C0700639
Disease: Pyloric Stenosis, Hypertrophic
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
APOA1 ; APOA1-AS
CUI: C0700639
Disease: Pyloric Stenosis, Hypertrophic
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: rs121912716
rs121912716
APOA1 ; APOA1-AS
CUI: C4015831
Disease: APOLIPOPROTEIN A-I (MARBURG) PHENOTYPE
APOLIPOPROTEIN A-I (MARBURG) PHENOTYPE 		A 0.700 CausalMutation CLINVAR

dbSNP: rs121912717
rs121912717
APOA1 ; APOA1-AS
CUI: C4015832
Disease: APOLIPOPROTEIN A-I (MUNSTER4) PHENOTYPE
APOLIPOPROTEIN A-I (MUNSTER4) PHENOTYPE 		T 0.700 CausalMutation CLINVAR

dbSNP: rs121912718
rs121912718
APOA1 ; APOA1-AS
CUI: C4017713
Disease: APOLIPOPROTEIN A-I (NORWAY) PHENOTYPE
APOLIPOPROTEIN A-I (NORWAY) PHENOTYPE 		T 0.700 CausalMutation CLINVAR

dbSNP: rs121912719
rs121912719
APOA1 ; APOA1-AS
CUI: C4015833
Disease: APOLIPOPROTEIN A-I (GIESSEN) PHENOTYPE
APOLIPOPROTEIN A-I (GIESSEN) PHENOTYPE 		C 0.700 CausalMutation CLINVAR

dbSNP: rs121912720
rs121912720
APOA1 ; APOA1-AS
CUI: C4015834
Disease: APOLIPOPROTEIN A-I (MUNSTER3C) PHENOTYPE
APOLIPOPROTEIN A-I (MUNSTER3C) PHENOTYPE 		C 0.700 CausalMutation CLINVAR

dbSNP: rs121912721
rs121912721
APOA1 ; APOA1-AS
CUI: C4015835
Disease: APOLIPOPROTEIN A-I (MUNSTER3B) PHENOTYPE
APOLIPOPROTEIN A-I (MUNSTER3B) PHENOTYPE 		C 0.700 CausalMutation CLINVAR

dbSNP: rs121912726
rs121912726
APOA1 ; APOA1-AS
CUI: C0268389
Disease: Amyloidosis, familial visceral
Amyloidosis, familial visceral 		G 0.700 CausalMutation CLINVAR

dbSNP: rs121912729
rs121912729
APOA1 ; APOA1-AS
CUI: C0268389
Disease: Amyloidosis, familial visceral
Amyloidosis, familial visceral 		G 0.700 CausalMutation CLINVAR

dbSNP: rs121912730
rs121912730
APOA1 ; APOA1-AS
CUI: C0268389
Disease: Amyloidosis, familial visceral
Amyloidosis, familial visceral 		G 0.700 CausalMutation CLINVAR

dbSNP: rs12718465
rs12718465
APOA1 ; APOA1-AS
CUI: C0392885
Disease: High density lipoprotein measurement
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: rs2070665
rs2070665
APOA1 ; APOA1-AS
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 GeneticVariation GWASDB Genome-wide association study identifies multiple loci influencing human serum metabolite levels. 22286219

2012
dbSNP: rs28929476
rs28929476
APOA1 ; APOA1-AS
CUI: C4015839
Disease: APOLIPOPROTEIN A-I (BALTIMORE) PHENOTYPE
APOLIPOPROTEIN A-I (BALTIMORE) PHENOTYPE 		A 0.700 CausalMutation CLINVAR

dbSNP: rs28931573
rs28931573
APOA1 ; APOA1-AS
CUI: C4015830
Disease: APOLIPOPROTEIN A-I (MILANO) PHENOTYPE
APOLIPOPROTEIN A-I (MILANO) PHENOTYPE 		A 0.700 CausalMutation CLINVAR

dbSNP: rs28931574
rs28931574
APOA1 ; APOA1-AS
CUI: C0268389
Disease: Amyloidosis, familial visceral
Amyloidosis, familial visceral 		0.700 GeneticVariation UNIPROT Familial nephropathic systemic amyloidosis caused by apolipoprotein AI variant Arg26. 8208902

1994
dbSNP: rs28931574
rs28931574
APOA1 ; APOA1-AS
CUI: C0268389
Disease: Amyloidosis, familial visceral
Amyloidosis, familial visceral 		0.700 GeneticVariation UNIPROT Apolipoprotein AI mutation Arg-60 causes autosomal dominant amyloidosis. 1502149

1992
dbSNP: rs28931574
rs28931574
APOA1 ; APOA1-AS
CUI: C0268389
Disease: Amyloidosis, familial visceral
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
APOA1 ; APOA1-AS
CUI: C0268389
Disease: Amyloidosis, familial visceral
Amyloidosis, familial visceral 		0.700 GeneticVariation UNIPROT Variant apolipoprotein AI as a major constituent of a human hereditary amyloid. 3142462

1988