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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.827 | 0.080 | 3 | 184358062 | missense variant | C/T | snv | 7.0E-06 |
|
Endocrine System Diseases | 0.810 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.882 | 0.040 | 3 | 184346710 | missense variant | T/G | snv |
|
Endocrine System Diseases | 0.800 | 1.000 | 2 | 2018 | 2018 | ||||||||
|
0.882 | 0.040 | 3 | 184359119 | missense variant | A/T | snv |
|
Endocrine System Diseases | 0.800 | 1.000 | 2 | 2018 | 2018 | ||||||||
|
0.925 | 0.040 | 3 | 184359124 | missense variant | C/T | snv |
|
Endocrine System Diseases | 0.800 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 3 | 184353787 | missense variant | C/G;T | snv | 4.3E-06; 3.3E-04 |
|
0.800 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
1.000 | 3 | 184354556 | missense variant | G/A;T | snv | 4.0E-06 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.827 | 0.080 | 3 | 184358062 | missense variant | C/T | snv | 7.0E-06 |
|
Endocrine System Diseases | 0.710 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1.000 | 3 | 184354113 | stop gained | C/T | snv | 2.0E-05 | 2.1E-05 |
|
0.700 | 1.000 | 2 | 2011 | 2013 | ||||||||
|
1.000 | 3 | 184352810 | missense variant | C/T | snv | 8.0E-06 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
1.000 | 3 | 184357979 | frameshift variant | -/C | delins |
|
0.700 | 1.000 | 1 | 2003 | 2003 | ||||||||||
|
1.000 | 3 | 184358228 | inframe deletion | TGAGGA/- | delins |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
1.000 | 3 | 184357431 | frameshift variant | -/C | delins |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
1.000 | 3 | 184357688 | missense variant | C/T | snv | 1.1E-03 | 1.1E-03 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
3 | 184351338 | intron variant | C/A;G | snv | 0.20 |
|
Behavior and Behavior Mechanisms | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
1.000 | 3 | 184354548 | missense variant | C/T | snv | 4.0E-06 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
1.000 | 3 | 184355751 | frameshift variant | G/ATGAGCAGT | delins |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
1.000 | 3 | 184355721 | frameshift variant | A/- | del | 8.0E-06 | 1.4E-05 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.827 | 0.080 | 3 | 184358062 | missense variant | C/T | snv | 7.0E-06 |
|
Cardiovascular Diseases | 0.700 | 0 | ||||||||||
|
0.827 | 0.080 | 3 | 184358062 | missense variant | C/T | snv | 7.0E-06 |
|
Nutritional and Metabolic Diseases | 0.700 | 0 | ||||||||||
|
0.827 | 0.080 | 3 | 184358062 | missense variant | C/T | snv | 7.0E-06 |
|
Endocrine System Diseases | 0.700 | 0 | ||||||||||
|
0.827 | 0.080 | 3 | 184358062 | missense variant | C/T | snv | 7.0E-06 |
|
Nutritional and Metabolic Diseases | 0.700 | 0 | ||||||||||
|
0.827 | 0.080 | 3 | 184358062 | missense variant | C/T | snv | 7.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.882 | 0.040 | 3 | 184346710 | missense variant | T/G | snv |
|
Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
0.882 | 0.040 | 3 | 184346710 | missense variant | T/G | snv |
|
Endocrine System Diseases | 0.700 | 0 | |||||||||||
|
0.882 | 0.040 | 3 | 184346710 | missense variant | T/G | snv |
|
Endocrine System Diseases | 0.700 | 0 |