RYR1, ryanodine receptor 1, 6261
N. diseases: 29; N. variants: 225
Source: CURATED ×
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 | 19 | 38584973 | missense variant | C/G;T | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.820 | 1.000 | 2 | 2004 | 2013 | ||||||||
|
1.000 | 0.080 | 19 | 38584986 | missense variant | G/A;T | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.810 | 1.000 | 2 | 2012 | 2013 | ||||||||
|
1.000 | 0.080 | 19 | 38570620 | missense variant | G/A | snv | 3.6E-05 | 7.0E-06 |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.800 | 1.000 | 5 | 2007 | 2015 | ||||||
|
1.000 | 0.080 | 19 | 38446484 | missense variant | G/A | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.800 | 1.000 | 2 | 2012 | 2012 | ||||||||
|
1.000 | 0.080 | 19 | 38572185 | missense variant | G/A | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.800 | 1.000 | 2 | 2012 | 2012 | ||||||||
|
1.000 | 0.080 | 19 | 38572224 | missense variant | A/C;G | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.800 | 1.000 | 2 | 2012 | 2012 | ||||||||
|
1.000 | 0.080 | 19 | 38580057 | missense variant | C/T | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.800 | 1.000 | 2 | 2012 | 2012 | ||||||||
|
1.000 | 0.080 | 19 | 38580395 | missense variant | C/G;T | snv | 4.0E-06 |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.800 | 1.000 | 2 | 2012 | 2012 | |||||||
|
1.000 | 0.080 | 19 | 38580449 | missense variant | A/G | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.800 | 1.000 | 2 | 2012 | 2012 | ||||||||
|
1.000 | 0.080 | 19 | 38584974 | missense variant | G/A;C | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.800 | 1.000 | 2 | 2012 | 2012 | ||||||||
|
0.925 | 0.120 | 19 | 38585013 | missense variant | C/G;T | snv | 1.2E-05; 4.0E-06 |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.800 | 1.000 | 2 | 2012 | 2012 | |||||||
|
1.000 | 0.080 | 19 | 38585037 | missense variant | G/C | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.800 | 1.000 | 2 | 2012 | 2012 | ||||||||
|
1.000 | 0.080 | 19 | 38585952 | missense variant | G/A | snv | 7.0E-06 |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.800 | 1.000 | 2 | 2012 | 2012 | |||||||
|
1.000 | 0.080 | 19 | 38572181 | missense variant | A/G | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.800 | 1.000 | 2 | 2012 | 2012 | ||||||||
|
1.000 | 0.080 | 19 | 38580090 | missense variant | C/A;T | snv | 4.0E-06 |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.800 | 1.000 | 2 | 2012 | 2012 | |||||||
|
1.000 | 0.080 | 19 | 38580439 | missense variant | C/T | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.800 | 1.000 | 2 | 2012 | 2012 | ||||||||
|
1.000 | 0.080 | 19 | 38584992 | missense variant | G/A | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.800 | 1.000 | 2 | 2012 | 2012 | ||||||||
|
1.000 | 0.080 | 19 | 38572221 | missense variant | T/C | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.800 | 0 | |||||||||||
|
1.000 | 0.080 | 19 | 38575959 | missense variant | A/C | snv | 7.0E-06 |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.800 | 0 | ||||||||||
|
1.000 | 0.080 | 19 | 38584967 | missense variant | G/C | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.800 | 0 | |||||||||||
|
0.882 | 0.120 | 19 | 38500898 | missense variant | C/G;T | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.800 | 0 | |||||||||||
|
1.000 | 0.080 | 19 | 38585036 | missense variant | A/G | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.800 | 0 | |||||||||||
|
0.882 | 0.120 | 19 | 38584989 | missense variant | T/A;C | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.760 | 1.000 | 0 | 2001 | 2011 | ||||||||
|
0.882 | 0.120 | 19 | 38499997 | missense variant | G/A;T | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.740 | 1.000 | 20 | 1993 | 2017 | ||||||||
|
0.882 | 0.120 | 19 | 38444211 | missense variant | C/T | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.730 | 1.000 | 0 | 2001 | 2011 |