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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.542 | 0.840 | 6 | 43770613 | 5 prime UTR variant | C/G | snv | 0.68 |
|
Cardiovascular Diseases | 0.060 | 0.833 | 6 | 2010 | 2018 | |||||||
|
0.570 | 0.680 | 6 | 43768652 | upstream gene variant | A/C;T | snv |
|
Eye Diseases; Endocrine System Diseases; Cardiovascular Diseases | 0.060 | 0.833 | 6 | 2010 | 2017 | ||||||||
|
0.605 | 0.600 | 6 | 43769749 | upstream gene variant | C/G;T | snv |
|
Eye Diseases | 0.060 | 0.833 | 6 | 2009 | 2019 | ||||||||
|
0.542 | 0.840 | 6 | 43770613 | 5 prime UTR variant | C/G | snv | 0.68 |
|
Eye Diseases | 0.050 | 0.800 | 5 | 2009 | 2019 | |||||||
|
0.570 | 0.680 | 6 | 43768652 | upstream gene variant | A/C;T | snv |
|
Cardiovascular Diseases | 0.050 | 0.800 | 5 | 2010 | 2018 | ||||||||
|
0.570 | 0.680 | 6 | 43768652 | upstream gene variant | A/C;T | snv |
|
Cardiovascular Diseases | 0.050 | 1.000 | 5 | 2016 | 2018 | ||||||||
|
0.574 | 0.720 | 6 | 43770966 | missense variant | G/A | snv |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 0.040 | 1.000 | 4 | 2005 | 2018 | ||||||||
|
0.882 | 0.200 | 6 | 43772941 | intron variant | T/A;C | snv |
|
Eye Diseases | 0.040 | 1.000 | 4 | 2012 | 2014 | ||||||||
|
0.542 | 0.840 | 6 | 43770613 | 5 prime UTR variant | C/G | snv | 0.68 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.040 | 1.000 | 4 | 2015 | 2018 | |||||||
|
0.542 | 0.840 | 6 | 43770613 | 5 prime UTR variant | C/G | snv | 0.68 |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 0.040 | 0.750 | 4 | 2005 | 2013 | |||||||
|
0.542 | 0.840 | 6 | 43770613 | 5 prime UTR variant | C/G | snv | 0.68 |
|
Eye Diseases; Endocrine System Diseases; Cardiovascular Diseases | 0.040 | 0.750 | 4 | 2013 | 2017 | |||||||
|
0.752 | 0.480 | 6 | 43777358 | non coding transcript exon variant | C/A | snv | 0.31 |
|
Eye Diseases; Endocrine System Diseases; Cardiovascular Diseases | 0.040 | 1.000 | 4 | 2011 | 2018 | |||||||
|
0.576 | 0.720 | 6 | 43784799 | 3 prime UTR variant | C/T | snv | 0.13 |
|
Female Urogenital Diseases and Pregnancy Complications | 0.040 | 0.750 | 4 | 2008 | 2020 | |||||||
|
0.576 | 0.720 | 6 | 43784799 | 3 prime UTR variant | C/T | snv | 0.13 |
|
Cardiovascular Diseases | 0.040 | 1.000 | 4 | 2016 | 2018 | |||||||
|
0.570 | 0.680 | 6 | 43768652 | upstream gene variant | A/C;T | snv |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.040 | 0.750 | 4 | 2017 | 2018 | ||||||||
|
0.570 | 0.680 | 6 | 43768652 | upstream gene variant | A/C;T | snv |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.040 | 0.750 | 4 | 2017 | 2018 | ||||||||
|
0.605 | 0.600 | 6 | 43769749 | upstream gene variant | C/G;T | snv |
|
Eye Diseases; Endocrine System Diseases; Cardiovascular Diseases | 0.040 | 1.000 | 4 | 2011 | 2017 | ||||||||
|
0.605 | 0.600 | 6 | 43769749 | upstream gene variant | C/G;T | snv |
|
Skin and Connective Tissue Diseases | 0.040 | 1.000 | 4 | 2014 | 2020 | ||||||||
|
0.574 | 0.720 | 6 | 43770966 | missense variant | G/A | snv |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.030 | 1.000 | 3 | 2007 | 2017 | ||||||||
|
0.574 | 0.720 | 6 | 43770966 | missense variant | G/A | snv |
|
Female Urogenital Diseases and Pregnancy Complications | 0.030 | 1.000 | 3 | 2009 | 2017 | ||||||||
|
0.574 | 0.720 | 6 | 43770966 | missense variant | G/A | snv |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.030 | 1.000 | 3 | 2008 | 2012 | ||||||||
|
0.574 | 0.720 | 6 | 43770966 | missense variant | G/A | snv |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.030 | 1.000 | 3 | 2007 | 2017 | ||||||||
|
0.574 | 0.720 | 6 | 43770966 | missense variant | G/A | snv |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.030 | 1.000 | 3 | 2008 | 2012 | ||||||||
|
0.641 | 0.680 | 6 | 43770093 | upstream gene variant | A/G | snv | 0.76 |
|
Cardiovascular Diseases | 0.030 | 1.000 | 3 | 2016 | 2018 | |||||||
|
0.542 | 0.840 | 6 | 43770613 | 5 prime UTR variant | C/G | snv | 0.68 |
|
Cardiovascular Diseases | 0.030 | 1.000 | 3 | 2015 | 2018 |