DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variant: rs1178187217 ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF _EXOME

AF _GENOME

Disease

Score _vda

EI _vda

N_.PMIDs

FirstRef.

LastRef.

dbSNP:

rs1178187217

DNAH11

0.683

0.480

21600085

missense variant

G/A;T

snv

4.3E-06

CUI:	C0149516
Disease:	Chronic sinusitis

Chronic sinusitis

0.700

dbSNP:

rs1178187217

DNAH11

0.683

0.480

21600085

missense variant

G/A;T

snv

4.3E-06

CUI:	C0149781
Disease:	Spontaneous pneumothorax

Spontaneous pneumothorax

0.700

dbSNP:

rs1178187217

DNAH11

0.683

0.480

21600085

missense variant

G/A;T

snv

4.3E-06

CUI:	C2607914
Disease:	Allergic rhinitis (disorder)

Allergic rhinitis (disorder)

0.700

dbSNP:

rs1178187217

DNAH11

0.683

0.480

21600085

missense variant

G/A;T

snv

4.3E-06

CUI:	C0694550
Disease:	Recurrent pneumonia

Recurrent pneumonia

0.700

dbSNP:

rs1178187217

DNAH11

0.683

0.480

21600085

missense variant

G/A;T

snv

4.3E-06

CUI:	C0700292
Disease:	Hypoxemia

Hypoxemia

0.700

dbSNP:

rs1178187217

DNAH11

0.683

0.480

21600085

missense variant

G/A;T

snv

4.3E-06

CUI:	C0014591
Disease:	Epistaxis

Epistaxis

0.700

dbSNP:

rs1178187217

DNAH11

0.683

0.480

21600085

missense variant

G/A;T

snv

4.3E-06

CUI:	C0032227
Disease:	Pleural effusion disorder

Pleural effusion disorder

0.700

dbSNP:

rs1178187217

DNAH11

0.683

0.480

21600085

missense variant

G/A;T

snv

4.3E-06

CUI:	C0702166
Disease:	Acne

Acne

0.700

dbSNP:

rs1178187217

DNAH11

0.683

0.480

21600085

missense variant

G/A;T

snv

4.3E-06

CUI:	C0040264
Disease:	Tinnitus

Tinnitus

0.700

dbSNP:

rs1178187217

DNAH11

0.683

0.480

21600085

missense variant

G/A;T

snv

4.3E-06

CUI:	C4054546
Disease:	Melanocortin 4 Receptor Deficiency

Melanocortin 4 Receptor Deficiency

0.700

dbSNP:

rs1178187217

DNAH11

0.683

0.480

21600085

missense variant

G/A;T

snv

4.3E-06

CUI:	C4317146
Disease:	Acid reflux

Acid reflux

0.700

dbSNP:

rs1178187217

DNAH11

0.683

0.480

21600085

missense variant

G/A;T

snv

4.3E-06

CUI:	C4025860
Disease:	Hearing abnormality

Hearing abnormality

0.700

dbSNP:

rs1178187217

DNAH11

0.683

0.480

21600085

missense variant

G/A;T

snv

4.3E-06

CUI:	C0013404
Disease:	Dyspnea

Dyspnea

0.700

dbSNP:

rs1178187217

DNAH11

0.683

0.480

21600085

missense variant

G/A;T

snv

4.3E-06

CUI:	C0747085
Disease:	Recurrent otitis media

Recurrent otitis media

0.700

dbSNP:

rs1178187217

DNAH11

0.683

0.480

21600085

missense variant

G/A;T

snv

4.3E-06

CUI:	C0032231
Disease:	Pleurisy

Pleurisy

0.700

dbSNP:

rs1178187217

DNAH11

0.683

0.480

21600085

missense variant

G/A;T

snv

4.3E-06

CUI:	C0008031
Disease:	Chest Pain

Chest Pain

0.700

dbSNP:

rs1178187217

DNAH11

0.683

0.480

21600085

missense variant

G/A;T

snv

4.3E-06

CUI:	C0004099
Disease:	Asthma, Exercise-Induced

Asthma, Exercise-Induced

0.700

dbSNP:

rs1178187217

DNAH11

0.683

0.480

21600085

missense variant

G/A;T

snv

4.3E-06

CUI:	C0004144
Disease:	Atelectasis

Atelectasis

0.700

dbSNP:

rs1178187217

DNAH11

0.683

0.480

21600085

missense variant

G/A;T

snv

4.3E-06

CUI:	C0043094
Disease:	Weight Gain

Weight Gain

0.700

dbSNP:

rs1178187217

DNAH11

0.683

0.480

21600085

missense variant

G/A;T

snv

4.3E-06

CUI:	C0149514
Disease:	Acute bronchitis

Acute bronchitis

0.700

dbSNP:

rs1178187217

DNAH11

0.683

0.480

21600085

missense variant

G/A;T

snv

4.3E-06

CUI:	C0039070
Disease:	Syncope

Syncope

0.700

dbSNP:

rs1178187217

DNAH11

0.683

0.480

21600085

missense variant

G/A;T

snv

4.3E-06

CUI:	C0746102
Disease:	Chronic lung disease

Chronic lung disease

0.700

dbSNP:

rs1178187217

DNAH11

0.683

0.480

21600085

missense variant

G/A;T

snv

4.3E-06

CUI:	C0010200
Disease:	Coughing

Coughing

0.700

dbSNP:

rs1178187217

DNAH11

0.683

0.480

21600085

missense variant

G/A;T

snv

4.3E-06

CUI:	C2678473
Disease:	CILIARY DYSKINESIA, PRIMARY, 7 (disorder)

CILIARY DYSKINESIA, PRIMARY, 7 (disorder)

0.700

dbSNP:

rs1178187217

DNAH11

0.683

0.480

21600085

missense variant

G/A;T

snv

4.3E-06

CUI:	C0004096
Disease:	Asthma

Asthma

0.700