INSR, insulin receptor, 3643
N. diseases: 452; N. variants: 109
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.851 | 0.200 | 19 | 7166098 | intron variant | A/G;T | snv |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.830 | 0.500 | 4 | 2011 | 2020 | ||||||||
|
0.776 | 0.240 | 19 | 7122961 | missense variant | C/T | snv |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.060 | 1.000 | 6 | 2001 | 2016 | ||||||||
|
0.851 | 0.200 | 19 | 7125286 | synonymous variant | G/A | snv | 0.23 | 0.21 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.030 | 0.333 | 3 | 2011 | 2020 | ||||||
|
0.882 | 0.120 | 19 | 7150407 | intron variant | C/G | snv | 0.75 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.020 | 1.000 | 2 | 2011 | 2014 | |||||||
|
0.882 | 0.160 | 19 | 7182952 | intron variant | A/C | snv | 0.25 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.010 | < 0.001 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.120 | 19 | 7184790 | intron variant | C/T | snv | 0.14 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.807 | 0.240 | 19 | 7166365 | synonymous variant | C/G;T | snv | 4.0E-06; 0.26 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.010 | < 0.001 | 1 | 2015 | 2015 | |||||||
|
1.000 | 0.120 | 19 | 7163219 | intron variant | T/C | snv | 0.22 | 0.27 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1.000 | 0.120 | 19 | 7163203 | splice region variant | T/C | snv | 9.8E-02 | 0.13 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1.000 | 0.120 | 19 | 7163129 | synonymous variant | T/G | snv | 9.8E-02 | 0.13 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1.000 | 0.120 | 19 | 7163054 | missense variant | G/A;T | snv | 6.4E-02 | 8.3E-02 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
|
0.851 | 0.240 | 19 | 7163143 | synonymous variant | G/A | snv | 9.8E-02 | 0.13 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1.000 | 0.120 | 19 | 7168922 | intron variant | A/G | snv | 0.24 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1.000 | 0.120 | 19 | 7165528 | intron variant | C/T | snv | 3.7E-02 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
1.000 | 0.120 | 19 | 7182742 | intron variant | T/A | snv | 0.23 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.010 | < 0.001 | 1 | 2011 | 2011 |