GIPC3, GIPC PDZ domain containing family member 3, 126326
N. diseases: 12; N. variants: 13
Source: ALL
Variant | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Disease Class | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.120 | 19 | 3589910 | missense variant | T/G | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases | 0.800 | 1.000 | 2 | 2011 | 2011 | ||||||||
|
1.000 | 0.120 | 19 | 3589892 | missense variant | G/A | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases | 0.800 | 1.000 | 2 | 2011 | 2011 | ||||||||
|
1.000 | 0.120 | 19 | 3586967 | missense variant | C/A;T | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases | 0.800 | 1.000 | 2 | 2011 | 2011 | ||||||||
|
1.000 | 0.120 | 19 | 3586533 | missense variant | G/C | snv | 4.0E-06 | 7.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases | 0.700 | 1.000 | 2 | 2011 | 2011 | ||||||
|
1.000 | 0.120 | 19 | 3589512 | missense variant | C/T | snv | 4.0E-05 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases | 0.700 | 1.000 | 2 | 2011 | 2011 | |||||||
|
1.000 | 0.120 | 19 | 3586550 | missense variant | G/A;C | snv | 1.2E-05; 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases | 0.700 | 1.000 | 2 | 2011 | 2011 | |||||||
|
1.000 | 0.120 | 19 | 3586669 | missense variant | G/A | snv | 7.4E-06 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.120 | 19 | 3590188 | stop lost | T/C | snv | 4.8E-06 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.120 | 19 | 3589849 | stop gained | G/T | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 19 | 3589849 | stop gained | G/T | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 19 | 3590154 | stop gained | G/A | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 19 | 3585733 | missense variant | G/A;T | snv | 1.5E-05 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.120 | 19 | 3589341 | intron variant | G/A | snv | 0.13 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.925 | 0.160 | 19 | 3586545 | synonymous variant | G/A | snv | 4.0E-06; 0.14 | 0.24 |
|
Infections; Respiratory Tract Diseases; Otorhinolaryngologic Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
0.925 | 0.160 | 19 | 3586545 | synonymous variant | G/A | snv | 4.0E-06; 0.14 | 0.24 |
|
Pathological Conditions, Signs and Symptoms | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
0.925 | 0.160 | 19 | 3586545 | synonymous variant | G/A | snv | 4.0E-06; 0.14 | 0.24 |
|
Respiratory Tract Diseases; Immune System Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 |