Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553565140
rs1553565140
A 0.700 CausalMutation CLINVAR

dbSNP: rs4953348
rs4953348
0.010 GeneticVariation BEFREE The rs4953348 polymorphism of EPAS1 gene had a significant correlation with the SaO2 level and AMS, and a significant difference in the AG and GG genotype distribution between the AMS and non-AMS groups. 27982053

2016

dbSNP: rs12406290
rs12406290
0.010 GeneticVariation BEFREE Carriers of the "GG" haplotype of rs12406290-rs2153364 exhibited an increased risk of AMS after adjustments for age and smoking status. 25431923

2014

dbSNP: rs12757362
rs12757362
0.010 GeneticVariation BEFREE No significant association was noted between AMS and rs12757362, rs1339894, rs1361384, rs2009873, rs2739513 or rs2486729 before and after Bonferroni correction. 25431923

2014

dbSNP: rs2153364
rs2153364
0.010 GeneticVariation BEFREE Carriers of the "GG" haplotype of rs12406290-rs2153364 exhibited an increased risk of AMS after adjustments for age and smoking status. 25431923

2014

dbSNP: rs480902
rs480902
0.010 GeneticVariation BEFREE Age was found to be significantly associated with the EPAS1 SNP in the CMS patients while heart rate (HR) and oxygen saturation level of hemoglobin (SaO(2)) were found to be significantly associated with the EGLN1 (rs480902) SNP in the Han patients with AMS. 22595196

2012

dbSNP: rs1413711
rs1413711
0.010 GeneticVariation BEFREE The rs3025039 SNP and the haplotype (rs1413711, rs833070 and rs3025000) in the VEGFA gene were significantly associated with AMS (p = 0.0435 and 0.024, respectively). 21242666

2011

dbSNP: rs3025000
rs3025000
0.010 GeneticVariation BEFREE The rs3025039 SNP and the haplotype (rs1413711, rs833070 and rs3025000) in the VEGFA gene were significantly associated with AMS (p = 0.0435 and 0.024, respectively). 21242666

2011

dbSNP: rs3025039
rs3025039
0.010 GeneticVariation BEFREE The rs3025039 SNP and the haplotype (rs1413711, rs833070 and rs3025000) in the VEGFA gene were significantly associated with AMS (p = 0.0435 and 0.024, respectively). 21242666

2011

dbSNP: rs833070
rs833070
0.010 GeneticVariation BEFREE The rs3025039 SNP and the haplotype (rs1413711, rs833070 and rs3025000) in the VEGFA gene were significantly associated with AMS (p = 0.0435 and 0.024, respectively). 21242666

2011

dbSNP: rs1267969615
rs1267969615
ACE
0.010 GeneticVariation BEFREE ACE (I/D) was significantly associated with HR in CMS patients while the AGT M235T was significantly associated with SaO(2) and BPs/d in AMS patients. 20570668

2010

dbSNP: rs1799722
rs1799722
0.010 GeneticVariation BEFREE We tested this by looking for associations between two functional polymorphisms (the in/del polymorphism +9/-9 [rs5810761] and the single-nucleotide polymorphism C--58T [rs1799722]) of BDKRB2 (the gene encoding the bradykinin receptor B2) and susceptibility to AMS in an altitude-exposed Nepalese population. 20511677

2010

dbSNP: rs699
rs699
AGT
0.010 GeneticVariation BEFREE ACE (I/D) was significantly associated with HR in CMS patients while the AGT M235T was significantly associated with SaO(2) and BPs/d in AMS patients. 20570668

2010

dbSNP: rs1799983
rs1799983
0.010 GeneticVariation BEFREE We tested the hypothesis that haplotypes, as determined by tagSNPs, in NOS3 would be differentially represented in individuals with and without AMS sampled at the Janai Purnima Festival at Lake Gosain Kunda, Nepal, at 4380 m. Seven SNPs were tested, and a highly significant association (p = 0.004) was found for genotypes of the commonly studied missense polymorphism Glu298Asp (rs 1799983; G/T transversion at base 894). 19775216

2009