rs1057516212
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs113993959
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1569162748
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs587777630
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs74597325
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs759191907
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs770861172
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs777516785
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs35705950
|
|
|
0.010 |
GeneticVariation |
BEFREE |
No difference was detected in MUC5B rs35705950 SNP allele frequency between bronchiectasis and healthy individuals.
|
31765597 |
2020 |
rs78655421
|
|
|
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 |
rs730882242
|
|
|
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 |
rs2070741
|
|
|
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 |
rs7041
|
|
|
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 |
rs6647
|
|
|
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 |
rs773717255
|
|
|
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 |