Gene: DNAH5 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1060501455
rs1060501455
DNAH5
T 0.700 CausalMutation CLINVAR

dbSNP: rs1060501456
rs1060501456
DNAH5
A 0.700 CausalMutation CLINVAR

dbSNP: rs1060501457
rs1060501457
DNAH5
T 0.700 CausalMutation CLINVAR

dbSNP: rs1060501458
rs1060501458
DNAH5
A 0.700 CausalMutation CLINVAR

dbSNP: rs1060501459
rs1060501459
DNAH5
CTA 0.700 CausalMutation CLINVAR

dbSNP: rs1060501460
rs1060501460
DNAH5
T 0.700 CausalMutation CLINVAR Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry. 11788826

2002
dbSNP: rs1060501460
rs1060501460
DNAH5
T 0.700 CausalMutation CLINVAR DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects. 16627867

2006
dbSNP: rs1060501461
rs1060501461
DNAH5
C 0.700 CausalMutation CLINVAR DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects. 16627867

2006
dbSNP: rs1060501461
rs1060501461
DNAH5
C 0.700 CausalMutation CLINVAR Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry. 11788826

2002
dbSNP: rs1060501464
rs1060501464
DNAH5
A 0.700 CausalMutation CLINVAR

dbSNP: rs1060501467
rs1060501467
DNAH5
T 0.700 CausalMutation CLINVAR

dbSNP: rs116128702
rs116128702
DNAH5
A 0.700 CausalMutation CLINVAR

dbSNP: rs1161303371
rs1161303371
DNAH5
G 0.700 CausalMutation CLINVAR An effective combination of sanger and next generation sequencing in diagnostics of primary ciliary dyskinesia. 26228299

2016
dbSNP: rs1175877764
rs1175877764
DNAH5
A 0.700 CausalMutation CLINVAR

dbSNP: rs1188507108
rs1188507108
DNAH5
A 0.700 CausalMutation CLINVAR

dbSNP: rs1193586811
rs1193586811
DNAH5
A 0.700 CausalMutation CLINVAR DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects. 16627867

2006
dbSNP: rs1273352530
rs1273352530
DNAH5
A 0.700 CausalMutation CLINVAR

dbSNP: rs1283070426
rs1283070426
DNAH5
A 0.700 CausalMutation CLINVAR

dbSNP: rs1353723750
rs1353723750
DNAH5
G 0.700 CausalMutation CLINVAR

dbSNP: rs1354919632
rs1354919632
DNAH5
A 0.700 CausalMutation CLINVAR

dbSNP: rs1370489117
rs1370489117
DNAH5
G 0.700 CausalMutation CLINVAR

dbSNP: rs138890576
rs138890576
DNAH5
G 0.700 CausalMutation CLINVAR An effective combination of sanger and next generation sequencing in diagnostics of primary ciliary dyskinesia. 26228299

2016
dbSNP: rs1391084505
rs1391084505
DNAH5
T 0.700 CausalMutation CLINVAR

dbSNP: rs1443540935
rs1443540935
DNAH5
G 0.700 CausalMutation CLINVAR Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia. 25186273

2014
dbSNP: rs146087064
rs146087064
DNAH5
T 0.700 CausalMutation CLINVAR