INF2, inverted formin, FH2 and WH2 domain containing, 64423
N. diseases: 62; N. variants: 21
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.080 | 14 | 104703343 | missense variant | T/C | snv |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.800 | 1.000 | 6 | 2010 | 2014 | ||||||||
|
1.000 | 0.080 | 14 | 104703439 | missense variant | C/T | snv |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.800 | 1.000 | 6 | 2010 | 2014 | ||||||||
|
0.925 | 0.080 | 14 | 104703428 | missense variant | G/A | snv | 7.0E-06 |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.800 | 1.000 | 6 | 2010 | 2014 | |||||||
|
1.000 | 0.080 | 14 | 104701490 | missense variant | T/C | snv |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.800 | 1.000 | 6 | 2010 | 2014 | ||||||||
|
0.882 | 0.080 | 14 | 104703440 | missense variant | G/A | snv |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.800 | 1.000 | 6 | 2010 | 2014 | ||||||||
|
1.000 | 14 | 104701675 | missense variant | T/C | snv |
|
0.800 | 1.000 | 5 | 2011 | 2015 | ||||||||||
|
1.000 | 14 | 104701676 | missense variant | G/A;T | snv |
|
0.800 | 1.000 | 5 | 2011 | 2015 | ||||||||||
|
1.000 | 14 | 104701677 | missense variant | C/G;T | snv |
|
0.800 | 1.000 | 5 | 2011 | 2015 | ||||||||||
|
1.000 | 14 | 104701748 | missense variant | T/C | snv |
|
0.800 | 1.000 | 5 | 2011 | 2015 | ||||||||||
|
1.000 | 14 | 104703108 | missense variant | T/G | snv |
|
0.800 | 1.000 | 5 | 2011 | 2015 | ||||||||||
|
1.000 | 0.080 | 14 | 104701402 | missense variant | G/A | snv | 3.6E-04 | 3.3E-04 |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 1.000 | 6 | 2010 | 2014 | ||||||
|
0.925 | 0.080 | 14 | 104703195 | inframe deletion | GCCCTGGAC/- | delins |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.080 | 14 | 104703195 | inframe deletion | GCCCTGGAC/- | delins |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
1.000 | 14 | 104701679 | missense variant | T/A | snv |
|
0.700 | 0 | |||||||||||||
|
1.000 | 0.080 | 14 | 104701582 | missense variant | G/A | snv |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 14 | 104703317 | missense variant | G/A;C | snv |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 14 | 104703337 | missense variant | G/A | snv |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 0 | |||||||||||
|
0.882 | 0.080 | 14 | 104703445 | stop gained | G/A;C;T | snv | 4.0E-06 |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 0 | ||||||||||
|
0.882 | 0.080 | 14 | 104703445 | stop gained | G/A;C;T | snv | 4.0E-06 |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 0 | ||||||||||
|
0.882 | 0.080 | 14 | 104703445 | stop gained | G/A;C;T | snv | 4.0E-06 |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 0 | ||||||||||
|
0.882 | 0.080 | 14 | 104703445 | stop gained | G/A;C;T | snv | 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 0 | ||||||||||
|
0.882 | 0.080 | 14 | 104703445 | stop gained | G/A;C;T | snv | 4.0E-06 |
|
Cardiovascular Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 14 | 104703427 | missense variant | C/T | snv | 4.0E-06 |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 14 | 104703420 | frameshift variant | GC/- | delins |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
14 | 104701619 | missense variant | C/G;T | snv | 4.4E-06 |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 |