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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.080 | 11 | 2135446 | stop gained | G/A;C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 11 | 2135365 | splice donor variant | -/GC | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 11 | 2135501 | stop gained | G/A;T | snv | 4.0E-06 |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.240 | 11 | 2148913 | intron variant | G/A | snv | 0.37 |
|
Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases | 0.810 | 1.000 | 3 | 2007 | 2017 | |||||||
|
0.882 | 0.120 | 11 | 2150371 | intron variant | T/C | snv | 0.19 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.020 | 1.000 | 2 | 2011 | 2013 | |||||||
|
0.882 | 0.120 | 11 | 2150371 | intron variant | T/C | snv | 0.19 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.020 | 1.000 | 2 | 2011 | 2013 | |||||||
|
0.882 | 0.120 | 11 | 2150371 | intron variant | T/C | snv | 0.19 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.020 | 1.000 | 2 | 2011 | 2013 | |||||||
|
1.000 | 0.040 | 11 | 2146313 | non coding transcript exon variant | T/G | snv | 0.47 | 0.40 |
|
Eye Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
0.827 | 0.240 | 11 | 2148913 | intron variant | G/A | snv | 0.37 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.827 | 0.240 | 11 | 2148913 | intron variant | G/A | snv | 0.37 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.827 | 0.240 | 11 | 2148913 | intron variant | G/A | snv | 0.37 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.827 | 0.240 | 11 | 2148913 | intron variant | G/A | snv | 0.37 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.827 | 0.240 | 11 | 2148913 | intron variant | G/A | snv | 0.37 |
|
Immune System Diseases; Nervous System Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.827 | 0.240 | 11 | 2148913 | intron variant | G/A | snv | 0.37 |
|
Endocrine System Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.882 | 0.200 | 11 | 2147784 | missense variant | A/G | snv | 0.49 | 0.40 |
|
Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
0.882 | 0.200 | 11 | 2147784 | missense variant | A/G | snv | 0.49 | 0.40 |
|
Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
0.882 | 0.200 | 11 | 2147784 | missense variant | A/G | snv | 0.49 | 0.40 |
|
Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
0.882 | 0.200 | 11 | 2147784 | missense variant | A/G | snv | 0.49 | 0.40 |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1.000 | 0.080 | 11 | 2140300 | splice acceptor variant | C/T | snv | 2.8E-02 | 1.5E-02 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
0.724 | 0.240 | 11 | 2146620 | non coding transcript exon variant | C/T | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.724 | 0.240 | 11 | 2146620 | non coding transcript exon variant | C/T | snv | 0.14 |
|
Digestive System Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.724 | 0.240 | 11 | 2146620 | non coding transcript exon variant | C/T | snv | 0.14 |
|
Immune System Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.724 | 0.240 | 11 | 2146620 | non coding transcript exon variant | C/T | snv | 0.14 |
|
Digestive System Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.724 | 0.240 | 11 | 2146620 | non coding transcript exon variant | C/T | snv | 0.14 |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.724 | 0.240 | 11 | 2146620 | non coding transcript exon variant | C/T | snv | 0.14 |
|
Digestive System Diseases; Nutritional and Metabolic Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 |