Gene: DNAI1 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397515363
rs397515363
DNAI1 ; FAM219A
GT 0.700 CausalMutation CLINVAR Diagnostic yield of a targeted gene panel in primary ciliary dyskinesia patients. 29363216

2018
dbSNP: rs397515363
rs397515363
DNAI1 ; FAM219A
GT 0.700 CausalMutation CLINVAR DNAH6 and Its Interactions with PCD Genes in Heterotaxy and Primary Ciliary Dyskinesia. 26918822

2016
dbSNP: rs200669099
rs200669099
DNAI1
A 0.700 CausalMutation CLINVAR Next generation massively parallel sequencing of targeted exomes to identify genetic mutations in primary ciliary dyskinesia: implications for application to clinical testing. 21270641

2011
dbSNP: rs79833450
rs79833450
DNAI1
A 0.700 GeneticVariation CLINVAR Population specificity of the DNAI1 gene mutation spectrum in primary ciliary dyskinesia (PCD). 21143860

2010
dbSNP: rs876657683
rs876657683
DNAI1
T 0.700 CausalMutation CLINVAR Conditional deletion of dnaic1 in a murine model of primary ciliary dyskinesia causes chronic rhinosinusitis. 19675306

2010
dbSNP: rs397515363
rs397515363
DNAI1 ; FAM219A
GT 0.700 CausalMutation CLINVAR DNAI1 mutations explain only 2% of primary ciliary dykinesia. 18434704

2008
dbSNP: rs772686744
rs772686744
DNAI1
C 0.700 CausalMutation CLINVAR DNAI1 mutations explain only 2% of primary ciliary dykinesia. 18434704

2008
dbSNP: rs200488444
rs200488444
DNAI1
C 0.700 GeneticVariation CLINVAR Mutations of DNAI1 in primary ciliary dyskinesia: evidence of founder effect in a common mutation. 16858015

2006
dbSNP: rs200669099
rs200669099
DNAI1
A 0.700 CausalMutation CLINVAR Mutations of DNAI1 in primary ciliary dyskinesia: evidence of founder effect in a common mutation. 16858015

2006
dbSNP: rs376252276
rs376252276
DNAI1
A 0.700 CausalMutation CLINVAR Mutations of DNAI1 in primary ciliary dyskinesia: evidence of founder effect in a common mutation. 16858015

2006
dbSNP: rs397515363
rs397515363
DNAI1 ; FAM219A
GT 0.700 CausalMutation CLINVAR Mutations of DNAI1 in primary ciliary dyskinesia: evidence of founder effect in a common mutation. 16858015

2006
dbSNP: rs397515563
rs397515563
DNAI1
A 0.700 GeneticVariation CLINVAR Mutations of DNAI1 in primary ciliary dyskinesia: evidence of founder effect in a common mutation. 16858015

2006
dbSNP: rs397515363
rs397515363
DNAI1 ; FAM219A
GT 0.700 CausalMutation CLINVAR Axonemal dynein intermediate-chain gene (DNAI1) mutations result in situs inversus and primary ciliary dyskinesia (Kartagener syndrome). 11231901

2001
dbSNP: rs772686744
rs772686744
DNAI1
C 0.700 CausalMutation CLINVAR Germline mutations in an intermediate chain dynein cause primary ciliary dyskinesia. 11713099

2001
dbSNP: rs79833450
rs79833450
DNAI1
A 0.700 GeneticVariation CLINVAR Axonemal dynein intermediate-chain gene (DNAI1) mutations result in situs inversus and primary ciliary dyskinesia (Kartagener syndrome). 11231901

2001
dbSNP: rs397515363
rs397515363
DNAI1 ; FAM219A
GT 0.700 CausalMutation CLINVAR Loss-of-function mutations in a human gene related to Chlamydomonas reinhardtii dynein IC78 result in primary ciliary dyskinesia. 10577904

1999
dbSNP: rs1060503495
rs1060503495
DNAI1
C 0.700 CausalMutation CLINVAR

dbSNP: rs1060503515
rs1060503515
DNAI1
A 0.700 CausalMutation CLINVAR

dbSNP: rs116938457
rs116938457
DNAI1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1465404366
rs1465404366
DNAI1
T 0.700 CausalMutation CLINVAR

dbSNP: rs368248592
rs368248592
DNAI1
A 0.700 CausalMutation CLINVAR

dbSNP: rs751920647
rs751920647
DNAI1
A 0.700 CausalMutation CLINVAR

dbSNP: rs769224534
rs769224534
DNAI1
T 0.700 CausalMutation CLINVAR

dbSNP: rs769284314
rs769284314
DNAI1
A 0.700 CausalMutation CLINVAR

dbSNP: rs878854968
rs878854968
DNAI1
G 0.700 CausalMutation CLINVAR