Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs796051877
rs796051877
GAA
A 0.700 CausalMutation CLINVAR c.1437G>A intron 9 substitution on acid α-glucosidase gene associated with classic infantile-onset Pompe disease phenotype. 26160551

2015
dbSNP: rs1057518957
rs1057518957
CHRND
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518958
rs1057518958
CHRND
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1057519439
rs1057519439
DNAH7
G 0.700 CausalMutation CLINVAR

dbSNP: rs1163944538
rs1163944538
TMEM94
GA 0.700 CausalMutation CLINVAR

dbSNP: rs1178187217
rs1178187217
DNAH11
A 0.700 GeneticVariation CLINVAR

dbSNP: rs121918459
rs121918459
PTPN11
G 0.700 CausalMutation CLINVAR

dbSNP: rs1294950721
rs1294950721
JAG1
A 0.700 CausalMutation CLINVAR

dbSNP: rs1352010373
rs1352010373
TMEM94
C 0.700 CausalMutation CLINVAR

dbSNP: rs1553621496
rs1553621496
UNC80
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1555735545
rs1555735545
STRN4 ; FKRP
A 0.700 CausalMutation CLINVAR

dbSNP: rs1569548274
rs1569548274
MECP2
T 0.700 CausalMutation CLINVAR

dbSNP: rs201943194
rs201943194
DNAH11
T 0.700 CausalMutation CLINVAR

dbSNP: rs28937900
rs28937900
FKRP
A 0.700 CausalMutation CLINVAR

dbSNP: rs397514698
rs397514698
GNAQ
T 0.700 CausalMutation CLINVAR

dbSNP: rs543860009
rs543860009
TTN ; TTN-AS1
A 0.700 CausalMutation CLINVAR

dbSNP: rs587782958
rs587782958
MYBPC3
T 0.700 CausalMutation CLINVAR

dbSNP: rs727505026
rs727505026
MYH7 ; MIR208B
T 0.700 GeneticVariation CLINVAR

dbSNP: rs759191907
rs759191907
ENG ; LOC105379841
G 0.700 CausalMutation CLINVAR

dbSNP: rs780533096
rs780533096
MIPEP
T 0.700 GeneticVariation CLINVAR

dbSNP: rs878854378
rs878854378
TTN ; TTN-AS1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs12979860
rs12979860
IFNL4
0.010 GeneticVariation BEFREE The CC genotype of the rs12979860 SNP was associated with a poorer prognosis (body mass index, airflow obstruction, dyspnea and exercise capacity index ≥ median 4; 46 vs. 36% TC vs. 20.5% TT; p = 0.031). 29562888

2018
dbSNP: rs777483913
rs777483913
CAPN3
0.010 GeneticVariation BEFREE We describe a 70 year-old independently ambulatory man with a 10-year history of progressive axial and limb-girdle weakness, hyperCKemia, and a 5-year history of dyspnea requiring nocturnal ventilatory support due to a known c.1309C>T (p.Arg437Cys) variant and a novel in-frame deletion of exons 17-19 in the calpain-3 encoding gene (CAPN3). 29685414

2018
dbSNP: rs7103572
rs7103572
HTR3B
0.010 GeneticVariation BEFREE 1 SNP remained significant in the multivariable model: people with rs7103572 SNP (HTR3B gene; present in 8.4% of the population) were three times more likely to have more intense breathlessness (OR 2.86; 95% CIs 1.46 to 5.62; p=0.002). 25948405

2015
dbSNP: rs1217691063
rs1217691063
MTHFR
0.010 GeneticVariation BEFREE Low serum folate levels and the TT genotype of the MTHFR-C677T polymorphism were associated with increased prevalence of self-reported doctor-diagnosed asthma [odds ratio (OR) 1.37, 95% confidence interval (CI) 1.05-1.79 and OR 1.52; 95% CI 1.12-2.06, respectively] and attacks of shortness of breath (OR 1.43, 95% CI 1.14-1.79 and OR 1.47; 95% CI: 1.14-1.91, respectively). 20456312

2010