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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.040 | 4 | 87975555 | non coding transcript exon variant | -/G | delins |
|
Neoplasms | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.882 | 0.120 | 4 | 87973963 | upstream gene variant | A/G;T | snv |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.882 | 0.120 | 4 | 87973963 | upstream gene variant | A/G;T | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.882 | 0.120 | 4 | 87973963 | upstream gene variant | A/G;T | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.882 | 0.160 | 4 | 87975645 | non coding transcript exon variant | T/G | snv | 0.17 |
|
Nervous System Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.882 | 0.160 | 4 | 87975645 | non coding transcript exon variant | T/G | snv | 0.17 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.882 | 0.200 | 4 | 87975096 | non coding transcript exon variant | G/T | snv | 0.14 |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.882 | 0.200 | 4 | 87975096 | non coding transcript exon variant | G/T | snv | 0.14 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.882 | 0.200 | 4 | 87975096 | non coding transcript exon variant | G/T | snv | 0.14 |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.882 | 0.200 | 4 | 87975096 | non coding transcript exon variant | G/T | snv | 0.14 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.160 | 4 | 87976662 | intron variant | C/T | snv | 0.34 |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.776 | 0.360 | 4 | 87983190 | 3 prime UTR variant | A/C;T | snv |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.776 | 0.360 | 4 | 87983190 | 3 prime UTR variant | A/C;T | snv |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.776 | 0.360 | 4 | 87983190 | 3 prime UTR variant | A/C;T | snv |
|
Pathological Conditions, Signs and Symptoms; Neoplasms | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.776 | 0.360 | 4 | 87983190 | 3 prime UTR variant | A/C;T | snv |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.776 | 0.360 | 4 | 87983190 | 3 prime UTR variant | A/C;T | snv |
|
Stomatognathic Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.776 | 0.360 | 4 | 87983190 | 3 prime UTR variant | A/C;T | snv |
|
Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.776 | 0.360 | 4 | 87983190 | 3 prime UTR variant | A/C;T | snv |
|
Neoplasms | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.776 | 0.360 | 4 | 87983190 | 3 prime UTR variant | A/C;T | snv |
|
Neoplasms | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.776 | 0.360 | 4 | 87983190 | 3 prime UTR variant | A/C;T | snv |
|
Skin and Connective Tissue Diseases; Immune System Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.080 | 4 | 87982700 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 |
|
Skin and Connective Tissue Diseases; Immune System Diseases | 0.020 | 0.500 | 2 | 2002 | 2017 | ||||||
|
0.827 | 0.280 | 4 | 87982701 | synonymous variant | C/G;T | snv | 0.32 | 0.26 |
|
Digestive System Diseases; Neoplasms | 0.020 | 1.000 | 2 | 2013 | 2017 | ||||||
|
0.827 | 0.280 | 4 | 87982701 | synonymous variant | C/G;T | snv | 0.32 | 0.26 |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.020 | 1.000 | 2 | 2013 | 2015 | ||||||
|
0.827 | 0.280 | 4 | 87982701 | synonymous variant | C/G;T | snv | 0.32 | 0.26 |
|
Skin and Connective Tissue Diseases; Immune System Diseases | 0.020 | 1.000 | 2 | 2002 | 2019 | ||||||
|
0.827 | 0.280 | 4 | 87982701 | synonymous variant | C/G;T | snv | 0.32 | 0.26 |
|
Pathological Conditions, Signs and Symptoms; Neoplasms | 0.010 | 1.000 | 1 | 2017 | 2017 |