Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs79833450
rs79833450
DNAI1
CUI: C4551906
Disease: Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus 		A 0.800 CausalMutation CLINVAR

dbSNP: rs1060503495
rs1060503495
DNAI1
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		C 0.700 CausalMutation CLINVAR

dbSNP: rs1060503515
rs1060503515
DNAI1
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		A 0.700 CausalMutation CLINVAR

dbSNP: rs116938457
rs116938457
DNAI1
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1465404366
rs1465404366
DNAI1
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		T 0.700 CausalMutation CLINVAR

dbSNP: rs200488444
rs200488444
DNAI1
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		C 0.700 GeneticVariation CLINVAR Mutations of DNAI1 in primary ciliary dyskinesia: evidence of founder effect in a common mutation. 16858015

2006
dbSNP: rs200488444
rs200488444
DNAI1
CUI: C4551906
Disease: Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs200669099
rs200669099
DNAI1
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		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: rs200669099
rs200669099
DNAI1
CUI: C4551906
Disease: Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus 		A 0.700 GeneticVariation 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: rs200669099
rs200669099
DNAI1
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		A 0.700 CausalMutation CLINVAR Mutations of DNAI1 in primary ciliary dyskinesia: evidence of founder effect in a common mutation. 16858015

2006
dbSNP: rs200669099
rs200669099
DNAI1
CUI: C4551906
Disease: Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus 		A 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
CUI: C4551906
Disease: Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus 		A 0.700 CausalMutation CLINVAR

dbSNP: rs202213517
rs202213517
DNAI1
CUI: C4551906
Disease: Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs368248592
rs368248592
DNAI1
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		A 0.700 CausalMutation CLINVAR

dbSNP: rs376252276
rs376252276
DNAI1
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		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
CUI: C4551906
Disease: Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus 		A 0.700 CausalMutation CLINVAR

dbSNP: rs397515363
rs397515363
DNAI1 ; FAM219A
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		GT 0.700 CausalMutation CLINVAR Diagnostic yield of a targeted gene panel in primary ciliary dyskinesia patients. 29363216

2018
dbSNP: rs397515363
rs397515363
DNAI1 ; FAM219A
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		GT 0.700 CausalMutation CLINVAR DNAH6 and Its Interactions with PCD Genes in Heterotaxy and Primary Ciliary Dyskinesia. 26918822

2016
dbSNP: rs397515363
rs397515363
DNAI1 ; FAM219A
CUI: C4551906
Disease: Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus 		GT 0.700 CausalMutation CLINVAR Primary ciliary dyskinesia-causing mutations in Amish and Mennonite communities. 23477994

2013
dbSNP: rs397515363
rs397515363
DNAI1 ; FAM219A
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		GT 0.700 CausalMutation CLINVAR DNAI1 mutations explain only 2% of primary ciliary dykinesia. 18434704

2008
dbSNP: rs397515363
rs397515363
DNAI1 ; FAM219A
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		GT 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
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		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: rs397515363
rs397515363
DNAI1 ; FAM219A
CUI: C4551906
Disease: Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus 		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: rs397515363
rs397515363
DNAI1 ; FAM219A
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		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: rs397515563
rs397515563
DNAI1
CUI: C4551906
Disease: Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus 		A 0.700 CausalMutation CLINVAR Mutations of DNAI1 in primary ciliary dyskinesia: evidence of founder effect in a common mutation. 16858015

2006