Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs145036301
rs145036301
ECSIT
0.010 GeneticVariation BEFREE We added thalidomide to the conventional dexamethasone-containing therapy regimen for two patients with HPS who expressed ECSIT-V140A, and we observed reversal of their HPS and disease-free survival for longer than 3 years. 29291352

2018
dbSNP: rs243865
rs243865
MMP2
0.010 GeneticVariation BEFREE CC/CT genotype and C allele of MMP-2 rs243865</span> polymorphism as well as CC/TT genotype and T allele of MMP-9 rs3918242 polymorphism increased the risk of HPS in cirrhotic patients. 30392570

2018
dbSNP: rs3918242
rs3918242
MMP9
0.010 GeneticVariation BEFREE CC/CT genotype and C allele of MMP-2 rs243865 polymorphism as well as CC/TT genotype and T allele of MMP-9 rs3918242 polymorphism increased the risk of HPS in cirrhotic patients. 30392570

2018
dbSNP: rs752317734
rs752317734
DECR1
0.010 GeneticVariation BEFREE We added thalidomide to the conventional dexamethasone-containing therapy regimen for two patients with HPS who expressed ECSIT-V140A, and we observed reversal of their HPS and disease-free survival for longer than 3 years. 29291352

2018
dbSNP: rs11614913
rs11614913
HOXC6 ; MIR196A2
0.010 GeneticVariation BEFREE The MIR196A2 rs11614913 C > T polymorphism may contribute to an increased risk of HPS in liver cirrhosis patients. 27509319

2017
dbSNP: rs1799983
rs1799983
NOS3
0.010 GeneticVariation BEFREE Endothelial Nitric Oxide Synthase G894T Polymorphism Associates with Disease Severity in Puumala Hantavirus Infection. 26561052

2015
dbSNP: rs119471022
rs119471022
HPS4
0.010 GeneticVariation BEFREE The two patients with HPS were homozygous for nonsense mutation (T/T) for the c.541C>T (rs119471022) in the HPS4 gene, which is mapped to human chromosome 22q12.1. 23563589

2013
dbSNP: rs119471022
rs119471022
HPS4
0.010 GeneticVariation BEFREE The two patients with HPS were homozygous for nonsense mutation (T/T) for the c.541C>T (rs119471022) in the HPS4 gene, which is mapped to human chromosome 22q12.1. 23563589

2013
dbSNP: rs769446880
rs769446880
HPS1
0.010 GeneticVariation BEFREE The two patients with HPS were homozygous for nonsense mutation (T/T) for the c.541C>T (rs119471022) in the HPS4 gene, which is mapped to human chromosome 22q12.1. 23563589

2013
dbSNP: rs62106244
rs62106244
DNMT1
0.010 GeneticVariation BEFREE However, the T allele of rs62106244 (intron 10 of DNMT1 gene) was over-represented in cases with HPS (p<0.01) compared with population controls. 21347319

2011
dbSNP: rs104894251
rs104894251
KCNJ1
0.010 GeneticVariation BEFREE The HPS phenotype in man can be explained by the lower expression of functional channels by the Kir1.1a[N124K] mutant. 9727001

1998