Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057516212
rs1057516212
SERPINA1
C 0.700 CausalMutation CLINVAR

dbSNP: rs113993959
rs113993959
CFTR
T 0.700 CausalMutation CLINVAR

dbSNP: rs1569162748
rs1569162748
OFD1
C 0.700 CausalMutation CLINVAR

dbSNP: rs587777630
rs587777630
STAT1
A 0.700 CausalMutation CLINVAR

dbSNP: rs74597325
rs74597325
CFTR
T 0.700 CausalMutation CLINVAR

dbSNP: rs759191907
rs759191907
ENG ; LOC105379841
G 0.700 CausalMutation CLINVAR

dbSNP: rs770861172
rs770861172
DNAH7
T 0.700 CausalMutation CLINVAR

dbSNP: rs777516785
rs777516785
USP11
A 0.700 GeneticVariation CLINVAR

dbSNP: rs35705950
rs35705950 		0.010 GeneticVariation BEFREE No difference was detected in MUC5B rs35705950 SNP allele frequency between bronchiectasis and healthy individuals. 31765597

2020
dbSNP: rs78655421
rs78655421
CFTR
0.010 GeneticVariation BEFREE For those with chest HRCT results available, 75% p.Arg117His-5TCF, 33% p.Arg117His-7TCF and 27% p.Arg117His-7TCFTR patients had bronchiectasis. 30279124

2019
dbSNP: rs730882242
rs730882242
DIAPH1
0.010 GeneticVariation BEFREE Recently, however, a homozygous nonsense DIAPH1 mutation (c.2332C4T; p.Q778X) was reported in five siblings in a single family affected by microcephaly, blindness, early onset seizures, developmental delay, and bronchiectasis. 26463574

2016
dbSNP: rs2070741
rs2070741
GC
0.010 GeneticVariation BEFREE rs2070741 was associated with airway bacterial colonisation (p=0.04) and bronchiectasis (p=0.01), as was rs7041 (p=0.03) which also influenced vitamin D concentrations (p=0.01). 21228423

2011
dbSNP: rs7041
rs7041
GC
0.010 GeneticVariation BEFREE rs2070741 was associated with airway bacterial colonisation (p=0.04) and bronchiectasis (p=0.01), as was rs7041 (p=0.03) which also influenced vitamin D concentrations (p=0.01). 21228423

2011
dbSNP: rs6647
rs6647
SERPINA1
0.010 GeneticVariation BEFREE For the SERPINA1 gene a statistically significant difference in the frequency was found for heterozygotes for p.V213A between DB patients and healthy smokers (44.1% vs. 26.4% respectively; p=0.035) and for heterozygotes for c.1237G>A between DB patients and general population subjects (10.2% vs. 25.4% respectively; p=0.023). 19747908

2010
dbSNP: rs773717255
rs773717255
ADRB2
0.010 GeneticVariation BEFREE For the SERPINA1 gene a statistically significant difference in the frequency was found for heterozygotes for p.V213A between DB patients and healthy smokers (44.1% vs. 26.4% respectively; p=0.035) and for heterozygotes for c.1237G>A between DB patients and general population subjects (10.2% vs. 25.4% respectively; p=0.023). 19747908

2010