KCND3, potassium voltage-gated channel subfamily D member 3, 3752
N. diseases: 94; 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 | 1 | 111981673 | missense variant | T/C;G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.800 | 1.000 | 4 | 2010 | 2018 | ||||||||
|
1.000 | 0.080 | 1 | 111981693 | missense variant | C/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.800 | 1.000 | 4 | 2010 | 2018 | ||||||||
|
0.925 | 0.080 | 1 | 111780713 | missense variant | G/A | snv | 1.3E-04 | 7.0E-05 |
|
0.800 | 1.000 | 2 | 2011 | 2012 | |||||||
|
1.000 | 0.080 | 1 | 111849738 | intron variant | G/T | snv | 0.10 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.882 | 0.080 | 1 | 111787039 | missense variant | C/T | snv |
|
0.800 | 0 | ||||||||||||
|
1.000 | 0.080 | 1 | 111787094 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 1.000 | 3 | 2012 | 2018 | ||||||||
|
1.000 | 0.080 | 1 | 111787044 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 1.000 | 3 | 2012 | 2018 | ||||||||
|
1.000 | 0.080 | 1 | 111849738 | intron variant | G/T | snv | 0.10 |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.700 | 1.000 | 2 | 2017 | 2018 | |||||||
|
1 | 111775862 | 3 prime UTR variant | A/G | snv | 0.39 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 0.080 | 1 | 111919280 | intron variant | A/G | snv | 0.26 |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1.000 | 0.080 | 1 | 111921382 | intron variant | C/T | snv | 0.25 |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 111820023 | intron variant | G/A | snv | 0.48 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 111781489 | intron variant | A/T | snv | 0.51 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 0.080 | 1 | 111873741 | intron variant | T/C | snv | 0.96 |
|
Neoplasms; Male Urogenital Diseases | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1 | 111894722 | intron variant | T/C;G | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
1 | 111894722 | intron variant | T/C;G | snv |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||||
|
1 | 111987808 | intron variant | A/G | snv | 6.6E-03 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 0.080 | 1 | 111787060 | missense variant | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 1 | 111787102 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 1 | 111982447 | missense variant | C/T | snv | 4.0E-06 |
|
Digestive System Diseases; Neoplasms | 0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 1 | 111982045 | inframe deletion | AAG/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 1 | 111777204 | missense variant | A/G | snv |
|
Pathological Conditions, Signs and Symptoms | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.120 | 1 | 111776247 | missense variant | C/T | snv | 6.4E-05 | 5.6E-05 |
|
Pathological Conditions, Signs and Symptoms | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
0.925 | 0.120 | 1 | 111776247 | missense variant | C/T | snv | 6.4E-05 | 5.6E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
0.925 | 0.080 | 1 | 111780713 | missense variant | G/A | snv | 1.3E-04 | 7.0E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 |