KCNQ1, potassium voltage-gated channel subfamily Q member 1, 3784
N. diseases: 281; N. variants: 380
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.763 | 0.120 | 11 | 2527959 | missense variant | A/G | snv |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.800 | 1.000 | 1 | 2003 | 2003 | ||||||||
|
0.807 | 0.120 | 11 | 2572870 | missense variant | G/A;C | snv | 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.700 | 0 | ||||||||||
|
0.716 | 0.240 | 11 | 2585264 | missense variant | A/G | snv | 4.0E-05 | 1.4E-05 |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.700 | 0 | |||||||||
|
0.807 | 0.120 | 11 | 2777990 | missense variant | C/T | snv | 1.6E-05 |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.700 | 0 | ||||||||||
|
0.925 | 0.120 | 11 | 2571345 | missense variant | T/C | snv |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
0.882 | 0.080 | 11 | 2572015 | missense variant | G/A | snv |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
0.790 | 0.120 | 11 | 2572021 | missense variant | G/A;T | snv |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
0.807 | 0.120 | 11 | 2775984 | missense variant | C/T | snv | 7.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.700 | 0 | ||||||||||
|
0.807 | 0.120 | 11 | 2768917 | stop gained | C/T | snv | 2.8E-05 | 1.4E-05 |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.700 | 0 | |||||||||
|
1.000 | 0.080 | 11 | 2445251 | inframe insertion | ATCGCGCCC/-;ATCGCGCCCATCGCGCCC;ATCGCGCCCATCGCGCCCATCGCGCCC | delins |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.700 | 0 |