BET1L, Bet1 golgi vesicular membrane trafficking protein like, 51272
N. diseases: 11; N. variants: 11
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
11 | 207462 | upstream gene variant | A/G | snv | 0.68 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
11 | 196944 | 5 prime UTR variant | C/T | snv | 0.17 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
11 | 196944 | 5 prime UTR variant | C/T | snv | 0.17 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
0.925 | 0.080 | 11 | 203788 | 3 prime UTR variant | C/T | snv | 4.7E-02 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
11 | 193863 | stop gained | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
11 | 205780 | non coding transcript exon variant | T/A | snv | 4.7E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
11 | 205780 | non coding transcript exon variant | T/A | snv | 4.7E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1.000 | 11 | 186604 | intron variant | T/C | snv | 0.25 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 11 | 186604 | intron variant | T/C | snv | 0.25 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 11 | 199492 | missense variant | G/A | snv | 6.4E-02 | 6.4E-02 |
|
Pathological Conditions, Signs and Symptoms | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1.000 | 0.040 | 11 | 199492 | missense variant | G/A | snv | 6.4E-02 | 6.4E-02 |
|
Male Urogenital Diseases | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1.000 | 0.120 | 11 | 192836 | intron variant | A/G | snv | 0.17 |
|
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1.000 | 0.120 | 11 | 192997 | intron variant | G/A;C;T | snv |
|
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.080 | 11 | 203788 | 3 prime UTR variant | C/T | snv | 4.7E-02 |
|
Nervous System Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
11 | 202856 | intron variant | G/A | snv | 0.17 |
|
0.800 | 1.000 | 2 | 2014 | 2019 | ||||||||||
|
11 | 202856 | intron variant | G/A | snv | 0.17 |
|
0.800 | 1.000 | 2 | 2009 | 2012 | ||||||||||
|
11 | 205198 | 3 prime UTR variant | C/A | snv | 0.61 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||||
|
11 | 205198 | 3 prime UTR variant | C/A | snv | 0.61 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||||
|
0.925 | 0.080 | 11 | 203788 | 3 prime UTR variant | C/T | snv | 4.7E-02 |
|
Neoplasms | 0.830 | 1.000 | 4 | 2011 | 2018 |