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 | 0.120 | 15 | 48251770 | missense variant | G/A;C | snv | 8.0E-06 |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases | 0.800 | 1.000 | 1 | 1996 | 1996 | |||||||
|
1.000 | 0.120 | 15 | 48229278 | missense variant | G/T | snv |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases | 0.800 | 1.000 | 1 | 1996 | 1996 | ||||||||
|
1.000 | 0.120 | 15 | 48246978 | missense variant | G/A | snv | 2.8E-05 | 2.8E-05 |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases | 0.700 | 1.000 | 4 | 1998 | 2017 | ||||||
|
15 | 48179327 | intron variant | A/T | snv | 0.83 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||||
|
15 | 48235916 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
15 | 48195657 | intron variant | C/T | snv | 0.81 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||||
|
15 | 48203311 | 3 prime UTR variant | C/T | snv | 0.83 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||||
|
15 | 48234074 | intron variant | G/A | snv | 0.75 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||||
|
0.925 | 0.120 | 15 | 48244876 | missense variant | G/A | snv |
|
Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.120 | 15 | 48244876 | missense variant | G/A | snv |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
15 | 48227465 | non coding transcript exon variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2007 | 2007 | |||||||||||
|
15 | 48232325 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2007 | 2007 | |||||||||||
|
1.000 | 0.080 | 15 | 48216203 | intron variant | C/T | snv | 0.81 |
|
Skin and Connective Tissue Diseases; Immune System Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
15 | 48234165 | intron variant | G/T | snv | 0.61 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||||
|
0.882 | 0.160 | 15 | 48234946 | frameshift variant | T/- | delins | 8.0E-06 |
|
Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.882 | 0.160 | 15 | 48234946 | frameshift variant | T/- | delins | 8.0E-06 |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.925 | 0.120 | 15 | 48229233 | missense variant | G/A | snv | 7.0E-06 |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.925 | 0.120 | 15 | 48229233 | missense variant | G/A | snv | 7.0E-06 |
|
Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1.000 | 0.120 | 15 | 48259251 | frameshift variant | G/- | delins |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 15 | 48234926 | frameshift variant | C/- | del |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 15 | 48251711 | missense variant | C/A;G | snv | 4.0E-06 |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.120 | 15 | 48288429 | frameshift variant | -/C | delins |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 15 | 48285113 | frameshift variant | GA/- | delins |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 15 | 48251657 | frameshift variant | TT/-;T | delins |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 15 | 48251703 | stop gained | G/A | snv | 8.8E-05 | 3.2E-04 |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases | 0.700 | 0 |