SLC22A12, solute carrier family 22 member 12, 116085
N. diseases: 43; N. variants: 35
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 | 0.040 | 11 | 64600264 | intron variant | A/G | snv | 0.34 |
|
Pathological Conditions, Signs and Symptoms | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.882 | 0.120 | 11 | 64590769 | 5 prime UTR variant | A/T | snv | 0.51 |
|
Pathological Conditions, Signs and Symptoms | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.882 | 0.160 | 11 | 64598324 | intron variant | C/A | snv | 0.61 |
|
Pathological Conditions, Signs and Symptoms | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
1.000 | 0.040 | 11 | 64591802 | missense variant | C/A;T | snv | 4.0E-06; 3.7E-02 |
|
Pathological Conditions, Signs and Symptoms | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.882 | 0.160 | 11 | 64591814 | synonymous variant | C/T | snv | 0.57 | 0.51 |
|
Pathological Conditions, Signs and Symptoms | 0.020 | 1.000 | 2 | 2015 | 2018 | ||||||
|
1.000 | 0.040 | 11 | 64598551 | missense variant | C/T | snv |
|
Pathological Conditions, Signs and Symptoms | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.882 | 0.160 | 11 | 64596819 | intron variant | C/T | snv | 0.25 |
|
Pathological Conditions, Signs and Symptoms | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1.000 | 0.040 | 11 | 64593570 | intron variant | G/A | snv | 9.4E-04 | 2.4E-04 |
|
Pathological Conditions, Signs and Symptoms | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
0.807 | 0.240 | 11 | 64593747 | stop gained | G/A;C | snv | 2.8E-04 |
|
Pathological Conditions, Signs and Symptoms | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.925 | 0.200 | 11 | 64592788 | missense variant | G/A;C | snv | 4.8E-05; 9.6E-05 |
|
Pathological Conditions, Signs and Symptoms | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1.000 | 0.040 | 11 | 64598471 | intron variant | T/A;C | snv | 6.5E-06; 0.57 |
|
Pathological Conditions, Signs and Symptoms | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.827 | 0.240 | 11 | 64592802 | synonymous variant | T/C | snv | 0.57 | 0.51 |
|
Pathological Conditions, Signs and Symptoms | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
0.882 | 0.160 | 11 | 64589600 | upstream gene variant | T/C | snv | 0.45 |
|
Pathological Conditions, Signs and Symptoms | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1.000 | 0.040 | 11 | 64591133 | 5 prime UTR variant | T/C | snv | 0.45 |
|
Pathological Conditions, Signs and Symptoms | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1.000 | 0.040 | 11 | 64600390 | missense variant | T/C;G | snv | 0.26 |
|
Pathological Conditions, Signs and Symptoms | 0.010 | 1.000 | 1 | 2010 | 2010 |