Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1178187217
rs1178187217
DNAH11
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1232880706
rs1232880706
FBN1
A 0.700 CausalMutation CLINVAR

dbSNP: rs201943194
rs201943194
DNAH11
T 0.700 CausalMutation CLINVAR

dbSNP: rs587782069
rs587782069
FLCN
0.010 GeneticVariation BEFREE We identified a de novo FLCN mutation, c.499C>T (p.Gln167X), in a patient who presented with spontaneous pneumothorax. 23264078

2013
dbSNP: rs1131690826
rs1131690826
FLCN
0.010 GeneticVariation BEFREE Three investigated family members with a history of at least one spontaneous pneumothorax were heterozygous for a single nucleotide substitution (c.779G>A) that leads to a premature stop codon (p.W260X). 18579543

2008
dbSNP: rs368778627
rs368778627
FLCN
0.010 GeneticVariation BEFREE Three investigated family members with a history of at least one spontaneous pneumothorax were heterozygous for a single nucleotide substitution (c.779G>A) that leads to a premature stop codon (p.W260X). 18579543

2008