Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555206402
rs1555206402
HMBS
CUI: C0020625
Disease: Hyponatremia
Hyponatremia 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1567053134
rs1567053134
CYP11A1
CUI: C0020625
Disease: Hyponatremia
Hyponatremia 		C 0.700 CausalMutation CLINVAR

dbSNP: rs1049305
rs1049305
AQP1
CUI: C0020625
Disease: Hyponatremia
Hyponatremia 		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: rs13181
rs13181
ERCC2 ; KLC3
CUI: C0020625
Disease: Hyponatremia
Hyponatremia 		0.010 GeneticVariation BEFREE Two polymorphisms were independently associated with the development of severe hyponatremia among patients carrying the minor allele (vs. patients with major homozygote genotype): TYMS 3'-UTR rs151264360 (odds ratio, 3.64; 95% confidence interval, 1.11-11.9) and XPD Lys751Gln rs13181 (odds ratio, 10.1; 95% confidence interval, 1.10-93.3). 30214618

2018
dbSNP: rs151264360
rs151264360
TYMS ; ENOSF1
CUI: C0020625
Disease: Hyponatremia
Hyponatremia 		0.010 GeneticVariation BEFREE Two polymorphisms were independently associated with the development of severe hyponatremia among patients carrying the minor allele (vs. patients with major homozygote genotype): TYMS 3'-UTR rs151264360 (odds ratio, 3.64; 95% confidence interval, 1.11-11.9) and XPD Lys751Gln rs13181 (odds ratio, 10.1; 95% confidence interval, 1.10-93.3). 30214618

2018
dbSNP: rs3741559
rs3741559
AQP2 ; LOC101927318
CUI: C0020625
Disease: Hyponatremia
Hyponatremia 		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: rs3742030
rs3742030
TRPV4
CUI: C0020625
Disease: Hyponatremia
Hyponatremia 		0.010 GeneticVariation BEFREE We show that this polymorphism is significantly associated with serum sodium concentration and with hyponatremia (serum sodium concentration < or =135 mEq/L) in 2 non-Hispanic Caucasian male populations; in addition, mean serum sodium concentration is lower among subjects with the TRPV4(P19S) allele relative to the wild-type allele. 19666518

2009
dbSNP: rs467323
rs467323
AQP2 ; LOC101927318
CUI: C0020625
Disease: Hyponatremia
Hyponatremia 		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: rs761389904
rs761389904
NDUFAF5
CUI: C0020625
Disease: Hyponatremia
Hyponatremia 		0.010 GeneticVariation BEFREE Both patients with p.Met279Arg are of Taiwanese descent and had severe hyponatremia. 30473481

2019
dbSNP: rs775067652
rs775067652
CA12
CUI: C0020625
Disease: Hyponatremia
Hyponatremia 		0.010 GeneticVariation BEFREE In an unrelated consanguineous Omani family, two children with elevated sweat chloride, infantile FTT, and recurrent hyponatremia were homozygous for a novel missense variant (p.His121Gln). 26911677

2016
dbSNP: rs778022582
rs778022582
KLHL40
CUI: C0020625
Disease: Hyponatremia
Hyponatremia 		0.010 GeneticVariation BEFREE Founder Mutation c.1516A>C in KLHL40 Is a Frequent Cause of Nemaline Myopathy With Hyponatremia in Ethnic Chinese. 31360996

2019