Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1049305
rs1049305
CUI: C0003962
Disease: Ascites
Ascites
0.010 GeneticVariation BEFREE The aim of our study was to investigate the distribution of single nucleotide polymorphisms (SNPs) of AQP1: rs1049305 (C/G) and AQP2: rs3741559 (A/G) and rs467323 (C/T) in 100 cirrhotic patients with ascites and to analyze their relationship with dilutional hyponatremia. 21793635

2011

dbSNP: rs113090017
rs113090017
CUI: C0003962
Disease: Ascites
Ascites
0.010 GeneticVariation BEFREE The patient with mutation R176X had high levels of bilirubin, alanine aminotransferase, γ-glutamyltransferase, cirrhosis and ascites despite biliary tract flushing procedures and drug therapy. 21633855

2012

dbSNP: rs2066845
rs2066845
CUI: C0003962
Disease: Ascites
Ascites
0.010 GeneticVariation BEFREE Minor allele frequencies for R702W, G908R and 1007fs in subjects with sterile non-neutrocytic ascites were 3.2, 2.5 and 2.5% respectively. 21745302

2012

dbSNP: rs3741559
rs3741559
CUI: C0003962
Disease: Ascites
Ascites
0.010 GeneticVariation BEFREE The aim of our study was to investigate the distribution of single nucleotide polymorphisms (SNPs) of AQP1: rs1049305 (C/G) and AQP2: rs3741559 (A/G) and rs467323 (C/T) in 100 cirrhotic patients with ascites and to analyze their relationship with dilutional hyponatremia. 21793635

2011

dbSNP: rs467323
rs467323
CUI: C0003962
Disease: Ascites
Ascites
0.010 GeneticVariation BEFREE The aim of our study was to investigate the distribution of single nucleotide polymorphisms (SNPs) of AQP1: rs1049305 (C/G) and AQP2: rs3741559 (A/G) and rs467323 (C/T) in 100 cirrhotic patients with ascites and to analyze their relationship with dilutional hyponatremia. 21793635

2011