PAM, peptidylglycine alpha-amidating monooxygenase, 5066
N. diseases: 155; N. variants: 23
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 102840757 | intron variant | A/G | snv | 7.8E-02 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
5 | 102840757 | intron variant | A/G | snv | 7.8E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
5 | 102969361 | intron variant | C/A | snv | 0.27 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
5 | 102782681 | intron variant | C/T | snv | 0.31 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
5 | 102992164 | intron variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
5 | 103025380 | intron variant | G/C | snv | 7.2E-02; 8.1E-06 | 7.4E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
5 | 102986201 | intron variant | C/T | snv | 0.33 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
5 | 102978235 | intron variant | G/A | snv | 0.33 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
5 | 102965654 | intron variant | T/C | snv | 3.1E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
5 | 102807607 | intron variant | G/A | snv | 3.2E-02 |
|
Behavior and Behavior Mechanisms | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
5 | 102834090 | intron variant | G/T | snv | 3.1E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1.000 | 0.040 | 5 | 102983270 | intron variant | T/A;C | snv |
|
Nervous System Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 5 | 102765152 | intron variant | A/T | snv | 0.47 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 5 | 102756366 | intron variant | C/T | snv | 0.46 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 5 | 102757441 | intron variant | C/T | snv | 0.48 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 5 | 102760289 | intron variant | C/G | snv | 0.50 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 5 | 102760721 | intron variant | C/T | snv | 0.50 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 5 | 102761215 | intron variant | A/G | snv | 0.48 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 5 | 102755940 | intron variant | A/G | snv | 2.7E-02 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.080 | 5 | 103003107 | missense variant | A/G | snv | 3.1E-02 | 3.2E-02 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.710 | 1.000 | 2 | 2014 | 2018 | ||||||
|
1.000 | 0.080 | 5 | 103003035 | missense variant | C/G;T | snv | 3.7E-03; 8.1E-06 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.710 | 1.000 | 2 | 2014 | 2018 | |||||||
|
1.000 | 0.080 | 5 | 103003107 | missense variant | A/G | snv | 3.1E-02 | 3.2E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1.000 | 0.080 | 5 | 103003107 | missense variant | A/G | snv | 3.1E-02 | 3.2E-02 |
|
Behavior and Behavior Mechanisms | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1.000 | 0.080 | 5 | 103003097 | missense variant | C/G;T | snv |
|
Nervous System Diseases; Mental Disorders | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 0.080 | 5 | 102912212 | intron variant | A/T | snv | 6.8E-03 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 1.000 | 1 | 2019 | 2019 |