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 | 0.040 | 12 | 124863717 | missense variant | C/T | snv | 0.10 | 8.6E-02 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
12 | 124779741 | intron variant | T/A;G | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||||
|
0.925 | 0.160 | 12 | 124851404 | intron variant | C/A | snv | 6.5E-02 |
|
Skin and Connective Tissue Diseases; Immune System Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.925 | 0.160 | 12 | 124851404 | intron variant | C/A | snv | 6.5E-02 |
|
Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases; Immune System Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1.000 | 0.040 | 12 | 124804719 | intron variant | G/A | snv | 0.41 |
|
Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.752 | 0.200 | 12 | 124800202 | synonymous variant | A/G;T | snv | 0.59; 4.0E-06 |
|
Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.752 | 0.200 | 12 | 124800202 | synonymous variant | A/G;T | snv | 0.59; 4.0E-06 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.882 | 0.080 | 12 | 124800125 | missense variant | G/A | snv | 9.9E-04 | 6.7E-04 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
0.925 | 0.120 | 12 | 124836304 | intron variant | C/T | snv | 0.38 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.810 | 1.000 | 3 | 2011 | 2017 | |||||||
|
0.763 | 0.160 | 12 | 124827879 | intron variant | G/C | snv | 0.32 |
|
Nutritional and Metabolic Diseases | 0.020 | 1.000 | 2 | 2016 | 2017 | |||||||
|
0.752 | 0.200 | 12 | 124800202 | synonymous variant | A/G;T | snv | 0.59; 4.0E-06 |
|
Eye Diseases | 0.020 | 1.000 | 2 | 2009 | 2017 | |||||||
|
1.000 | 0.040 | 12 | 124833036 | intron variant | C/T | snv | 0.49 |
|
Cardiovascular Diseases | 0.010 | < 0.001 | 1 | 2017 | 2017 | |||||||
|
0.763 | 0.160 | 12 | 124827879 | intron variant | G/C | snv | 0.32 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.851 | 0.040 | 12 | 124822507 | intron variant | G/A | snv | 0.15 |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.925 | 0.120 | 12 | 124814823 | intron variant | A/G | snv | 0.28 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.925 | 0.120 | 12 | 124814823 | intron variant | A/G | snv | 0.28 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.752 | 0.200 | 12 | 124800202 | synonymous variant | A/G;T | snv | 0.59; 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases | 0.010 | < 0.001 | 1 | 2017 | 2017 | |||||||
|
0.752 | 0.200 | 12 | 124800202 | synonymous variant | A/G;T | snv | 0.59; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 12 | 124784929 | non coding transcript exon variant | T/C | snv | 0.64 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.763 | 0.160 | 12 | 124827879 | intron variant | G/C | snv | 0.32 |
|
Cardiovascular Diseases | 0.040 | 0.750 | 4 | 2010 | 2018 | |||||||
|
0.763 | 0.160 | 12 | 124827879 | intron variant | G/C | snv | 0.32 |
|
Cardiovascular Diseases | 0.040 | 0.750 | 4 | 2010 | 2018 | |||||||
|
0.763 | 0.160 | 12 | 124827879 | intron variant | G/C | snv | 0.32 |
|
Pathological Conditions, Signs and Symptoms | 0.030 | 1.000 | 3 | 2010 | 2018 | |||||||
|
0.752 | 0.200 | 12 | 124800202 | synonymous variant | A/G;T | snv | 0.59; 4.0E-06 |
|
Cardiovascular Diseases | 0.030 | 1.000 | 3 | 2013 | 2018 | |||||||
|
0.752 | 0.200 | 12 | 124800202 | synonymous variant | A/G;T | snv | 0.59; 4.0E-06 |
|
Cardiovascular Diseases | 0.030 | 0.333 | 3 | 2013 | 2018 | |||||||
|
0.763 | 0.160 | 12 | 124827879 | intron variant | G/C | snv | 0.32 |
|
Cardiovascular Diseases | 0.020 | 1.000 | 2 | 2017 | 2018 |