Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs796065047
rs796065047
Entrez Id: 26060
Gene Symbol: APPL1
APPL1
CUI: C4225299
Disease:
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14
A 0.700 CausalMutation CLINVAR
dbSNP: rs869320673
rs869320673
Entrez Id: 26060
Gene Symbol: APPL1
APPL1
CUI: C4225299
Disease:
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14
A 0.700 CausalMutation CLINVAR
dbSNP: rs796065047
rs796065047
Entrez Id: 26060
Gene Symbol: APPL1
APPL1
CUI: C0011847
Disease:
Diabetes
0.010 GeneticVariation BEFREE Here we report two loss-of-function mutations (c.1655T>A [p.Leu552(∗)] and c.280G>A [p.Asp94Asn]) in the gene for the Adaptor Protein, Phosphotyrosine Interaction, PH domain, and leucine zipper containing 1 (APPL1) that were identified by means of whole-exome sequencing in two large families with a high prevalence of diabetes not due to mutations in known genes involved in maturity onset diabetes of the young (MODY). 26073777 2015
dbSNP: rs796065047
rs796065047
Entrez Id: 26060
Gene Symbol: APPL1
APPL1
CUI: C0342276
Disease:
Maturity onset diabetes mellitus in young
0.010 GeneticVariation BEFREE Here we report two loss-of-function mutations (c.1655T>A [p.Leu552(∗)] and c.280G>A [p.Asp94Asn]) in the gene for the Adaptor Protein, Phosphotyrosine Interaction, PH domain, and leucine zipper containing 1 (APPL1) that were identified by means of whole-exome sequencing in two large families with a high prevalence of diabetes not due to mutations in known genes involved in maturity onset diabetes of the young (MODY). 26073777 2015
dbSNP: rs796065047
rs796065047
Entrez Id: 26060
Gene Symbol: APPL1
APPL1
CUI: C0011849
Disease:
Diabetes Mellitus
0.010 GeneticVariation BEFREE Here we report two loss-of-function mutations (c.1655T>A [p.Leu552(∗)] and c.280G>A [p.Asp94Asn]) in the gene for the Adaptor Protein, Phosphotyrosine Interaction, PH domain, and leucine zipper containing 1 (APPL1) that were identified by means of whole-exome sequencing in two large families with a high prevalence of diabetes not due to mutations in known genes involved in maturity onset diabetes of the young (MODY). 26073777 2015
dbSNP: rs869320673
rs869320673
Entrez Id: 26060
Gene Symbol: APPL1
APPL1
CUI: C0011847
Disease:
Diabetes
0.010 GeneticVariation BEFREE Here we report two loss-of-function mutations (c.1655T>A [p.Leu552(∗)] and c.280G>A [p.Asp94Asn]) in the gene for the Adaptor Protein, Phosphotyrosine Interaction, PH domain, and leucine zipper containing 1 (APPL1) that were identified by means of whole-exome sequencing in two large families with a high prevalence of diabetes not due to mutations in known genes involved in maturity onset diabetes of the young (MODY). 26073777 2015
dbSNP: rs869320673
rs869320673
Entrez Id: 26060
Gene Symbol: APPL1
APPL1
CUI: C0342276
Disease:
Maturity onset diabetes mellitus in young
0.010 GeneticVariation BEFREE Here we report two loss-of-function mutations (c.1655T>A [p.Leu552(∗)] and c.280G>A [p.Asp94Asn]) in the gene for the Adaptor Protein, Phosphotyrosine Interaction, PH domain, and leucine zipper containing 1 (APPL1) that were identified by means of whole-exome sequencing in two large families with a high prevalence of diabetes not due to mutations in known genes involved in maturity onset diabetes of the young (MODY). 26073777 2015
dbSNP: rs869320673
rs869320673
Entrez Id: 26060
Gene Symbol: APPL1
APPL1
CUI: C0011849
Disease:
Diabetes Mellitus
0.010 GeneticVariation BEFREE Here we report two loss-of-function mutations (c.1655T>A [p.Leu552(∗)] and c.280G>A [p.Asp94Asn]) in the gene for the Adaptor Protein, Phosphotyrosine Interaction, PH domain, and leucine zipper containing 1 (APPL1) that were identified by means of whole-exome sequencing in two large families with a high prevalence of diabetes not due to mutations in known genes involved in maturity onset diabetes of the young (MODY). 26073777 2015
dbSNP: rs3806622
rs3806622
Entrez Id: 8820;26060
Gene Symbol: HESX1;APPL1
HESX1;APPL1
CUI: C0400966
Disease:
Non-alcoholic Fatty Liver Disease
0.010 GeneticVariation BEFREE To this aim allele frequency and genotype distribution of APPL1- rs3806622 and -rs4640525 and APPL2-rs 11112412 variants were evaluated in 223 subjects with clinical diagnosis of NAFLD and compared with 231 healthy subjects. 23977033 2013
dbSNP: rs4640525
rs4640525
Entrez Id: 8820;26060
Gene Symbol: HESX1;APPL1
HESX1;APPL1
CUI: C0400966
Disease:
Non-alcoholic Fatty Liver Disease
0.010 GeneticVariation BEFREE To this aim allele frequency and genotype distribution of APPL1- rs3806622 and -rs4640525 and APPL2-rs 11112412 variants were evaluated in 223 subjects with clinical diagnosis of NAFLD and compared with 231 healthy subjects. 23977033 2013
dbSNP: rs4640525
rs4640525
Entrez Id: 8820;26060
Gene Symbol: HESX1;APPL1
HESX1;APPL1
CUI: C1956346
Disease:
Coronary Artery Disease
0.010 GeneticVariation BEFREE The minor allele G of rs4640525 at APPL1 locus was protective from CAD in patients with T2DM, with the carriers of genotype CC at higher risk of CAD compared with non-carriers (OR = 2.830, 95%CI 1.285 - 6.230, P = 0.010; OR' = 4.992, 95%CI = 1.758 - 14.173, P' = 0.003, after adjustment for the other known CAD risk factors); the homozygotes of AA at rs11112412 in APPL2 gene had higher risk of CAD compared with those of GG (adjusted OR' = 5.697, 95%CI 1.006 - 32.257, P' = 0.049). 22340213 2011
dbSNP: rs17791685
rs17791685
Entrez Id: 26060;142686;105377102
Gene Symbol: APPL1;ASB14;LOC105377102
APPL1;ASB14;LOC105377102
CUI: C0011849
Disease:
Diabetes Mellitus
0.010 GeneticVariation BEFREE We genotyped 640 healthy subjects with and without a family history of diabetes for the four single nucleotide polymorphisms (SNPs) rs6774584, rs3087684, rs17791685 and rs528035 and performed correlational analyses with metabolic and inflammatory traits. 17490420 2007
dbSNP: rs17791685
rs17791685
Entrez Id: 26060;142686;105377102
Gene Symbol: APPL1;ASB14;LOC105377102
APPL1;ASB14;LOC105377102
CUI: C0011847
Disease:
Diabetes
0.010 GeneticVariation BEFREE We genotyped 640 healthy subjects with and without a family history of diabetes for the four single nucleotide polymorphisms (SNPs) rs6774584, rs3087684, rs17791685 and rs528035 and performed correlational analyses with metabolic and inflammatory traits. 17490420 2007
dbSNP: rs3087684
rs3087684
Entrez Id: 26060;142686;105377102
Gene Symbol: APPL1;ASB14;LOC105377102
APPL1;ASB14;LOC105377102
CUI: C0011849
Disease:
Diabetes Mellitus
0.010 GeneticVariation BEFREE We genotyped 640 healthy subjects with and without a family history of diabetes for the four single nucleotide polymorphisms (SNPs) rs6774584, rs3087684, rs17791685 and rs528035 and performed correlational analyses with metabolic and inflammatory traits. 17490420 2007
dbSNP: rs3087684
rs3087684
Entrez Id: 26060;142686;105377102
Gene Symbol: APPL1;ASB14;LOC105377102
APPL1;ASB14;LOC105377102
CUI: C0011847
Disease:
Diabetes
0.010 GeneticVariation BEFREE We genotyped 640 healthy subjects with and without a family history of diabetes for the four single nucleotide polymorphisms (SNPs) rs6774584, rs3087684, rs17791685 and rs528035 and performed correlational analyses with metabolic and inflammatory traits. 17490420 2007