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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.320 | 22 | 36292060 | missense variant | C/A;G;T | snv |
|
Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases | 0.830 | 1.000 | 12 | 2000 | 2011 | ||||||||
|
0.925 | 0.160 | 22 | 36284474 | missense variant | C/T | snv |
|
Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases | 0.830 | 1.000 | 12 | 2000 | 2006 | ||||||||
|
0.827 | 0.320 | 22 | 36305985 | missense variant | G/A | snv |
|
Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases | 0.810 | 1.000 | 11 | 2000 | 2006 | ||||||||
|
0.882 | 0.320 | 22 | 36305984 | missense variant | C/T | snv | 7.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases | 0.810 | 1.000 | 11 | 2000 | 2006 | |||||||
|
0.851 | 0.200 | 22 | 36305975 | missense variant | C/T | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases | 0.810 | 1.000 | 1 | 2000 | 2000 | ||||||||
|
1.000 | 0.160 | 22 | 36348958 | missense variant | G/A;C | snv | 2.4E-05 |
|
Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases | 0.800 | 1.000 | 11 | 2000 | 2006 | |||||||
|
22 | 36295526 | missense variant | G/A | snv |
|
Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases | 0.800 | 1.000 | 11 | 2000 | 2006 | ||||||||||
|
0.882 | 0.160 | 22 | 36348950 | missense variant | G/A | snv |
|
Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases | 0.800 | 1.000 | 11 | 2000 | 2006 | ||||||||
|
0.851 | 0.200 | 22 | 36295069 | missense variant | G/A | snv |
|
Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases | 0.800 | 1.000 | 11 | 2000 | 2006 | ||||||||
|
0.925 | 0.160 | 22 | 36295068 | missense variant | C/A | snv |
|
Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases | 0.800 | 1.000 | 11 | 2000 | 2006 | ||||||||
|
0.925 | 0.200 | 22 | 36282754 | stop gained | G/A | snv | 4.0E-06 | 7.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases | 0.730 | 1.000 | 3 | 2001 | 2014 | ||||||
|
0.882 | 0.320 | 22 | 36292060 | missense variant | C/A;G;T | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases | 0.720 | 1.000 | 2 | 2002 | 2003 | ||||||||
|
0.882 | 0.320 | 22 | 36305984 | missense variant | C/T | snv | 7.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases | 0.710 | 1.000 | 2 | 2002 | 2019 | |||||||
|
0.882 | 0.160 | 22 | 36348950 | missense variant | G/A | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases | 0.710 | 1.000 | 1 | 2002 | 2002 | ||||||||
|
0.827 | 0.320 | 22 | 36305985 | missense variant | G/A | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases | 0.710 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.851 | 0.200 | 22 | 36295069 | missense variant | G/A | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases | 0.710 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.925 | 0.160 | 22 | 36284474 | missense variant | C/T | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases | 0.710 | 1.000 | 1 | 2002 | 2002 | ||||||||
|
0.925 | 0.200 | 22 | 36282754 | stop gained | G/A | snv | 4.0E-06 | 7.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases | 0.710 | 1.000 | 1 | 2014 | 2014 | ||||||
|
22 | 36295650 | missense variant | A/G | snv | 3.2E-04 | 4.3E-04 |
|
Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 11 | 2000 | 2006 | ||||||||
|
22 | 36300961 | missense variant | T/G | snv | 1.6E-04 | 2.8E-05 |
|
Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 11 | 2000 | 2006 | ||||||||
|
22 | 36285158 | missense variant | T/C | snv | 1.6E-05 | 7.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 11 | 2000 | 2006 | ||||||||
|
22 | 36292132 | missense variant | G/A | snv | 1.0E-03 | 1.2E-03 |
|
Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 11 | 2000 | 2006 | ||||||||
|
0.882 | 0.160 | 22 | 36348950 | missense variant | G/A | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 5 | 2002 | 2016 | ||||||||
|
22 | 36362502 | intron variant | A/G | snv | 0.62 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||||
|
22 | 36286661 | intron variant | G/A | snv | 5.7E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 |