CASR, calcium sensing receptor, 846
N. diseases: 517; N. variants: 131
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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.851 | 0.160 | 3 | 122284403 | missense variant | G/A | snv |
|
Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||||
|
0.882 | 0.160 | 3 | 122284611 | missense variant | G/A;C | snv |
|
Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 3 | 122254250 | missense variant | G/A | snv |
|
Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 3 | 122262224 | missense variant | G/A | snv | 7.0E-06 |
|
Nutritional and Metabolic Diseases | 0.700 | 0 | ||||||||||
|
0.925 | 0.120 | 3 | 122257094 | frameshift variant | G/TTCGCT | delins |
|
Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.120 | 3 | 122275959 | missense variant | G/A | snv | 8.0E-06 |
|
Nutritional and Metabolic Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.040 | 3 | 122261531 | missense variant | A/G | snv |
|
Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 3 | 122284869 | missense variant | C/T | snv | 4.4E-05 | 1.4E-05 |
|
Nutritional and Metabolic Diseases | 0.800 | 0 | |||||||||
|
1.000 | 0.040 | 3 | 122283993 | missense variant | G/A | snv | 8.0E-06 |
|
Nutritional and Metabolic Diseases | 0.700 | 0 | ||||||||||
|
0.925 | 0.120 | 3 | 122284436 | missense variant | A/C | snv |
|
Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.120 | 3 | 122257080 | splice acceptor variant | G/T | snv |
|
Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||||
|
0.790 | 0.200 | 3 | 122261589 | missense variant | G/A;C | snv |
|
Nutritional and Metabolic Diseases | 0.810 | 1.000 | 36 | 1976 | 2016 | ||||||||
|
0.925 | 0.120 | 3 | 122257308 | missense variant | C/T | snv |
|
Nutritional and Metabolic Diseases | 0.800 | 1.000 | 22 | 1992 | 2016 | ||||||||
|
0.882 | 0.160 | 3 | 122261924 | missense variant | G/A | snv |
|
Nutritional and Metabolic Diseases | 0.800 | 1.000 | 25 | 1993 | 2016 | ||||||||
|
0.925 | 0.120 | 3 | 122261549 | missense variant | A/C;G | snv | 4.0E-06 |
|
Nutritional and Metabolic Diseases | 0.800 | 1.000 | 22 | 1993 | 2016 | |||||||
|
0.851 | 0.120 | 3 | 122254304 | missense variant | C/G;T | snv |
|
Nutritional and Metabolic Diseases | 0.810 | 1.000 | 21 | 1993 | 2016 | ||||||||
|
0.925 | 0.120 | 3 | 122283699 | missense variant | G/A;T | snv |
|
Nutritional and Metabolic Diseases | 0.800 | 1.000 | 20 | 1993 | 2016 | ||||||||
|
1.000 | 0.040 | 3 | 122275828 | missense variant | G/A;T | snv |
|
Nutritional and Metabolic Diseases | 0.700 | 1.000 | 20 | 1993 | 2016 | ||||||||
|
0.925 | 0.040 | 3 | 122254227 | missense variant | T/C | snv |
|
Nutritional and Metabolic Diseases | 0.800 | 1.000 | 20 | 1993 | 2016 | ||||||||
|
1.000 | 0.040 | 3 | 122282161 | missense variant | G/A | snv |
|
Nutritional and Metabolic Diseases | 0.800 | 1.000 | 20 | 1993 | 2016 | ||||||||
|
0.882 | 0.160 | 3 | 122284337 | missense variant | C/T | snv | 7.0E-06 |
|
Nutritional and Metabolic Diseases | 0.800 | 1.000 | 20 | 1993 | 2016 | |||||||
|
0.851 | 0.160 | 3 | 122257323 | missense variant | G/A | snv |
|
Nutritional and Metabolic Diseases | 0.800 | 1.000 | 20 | 1993 | 2016 | ||||||||
|
1.000 | 0.040 | 3 | 122254374 | missense variant | G/T | snv |
|
Nutritional and Metabolic Diseases | 0.800 | 1.000 | 20 | 1993 | 2016 | ||||||||
|
1.000 | 0.040 | 3 | 122257091 | missense variant | C/T | snv |
|
Nutritional and Metabolic Diseases | 0.800 | 1.000 | 20 | 1993 | 2016 | ||||||||
|
1.000 | 0.040 | 3 | 122261574 | missense variant | T/G | snv |
|
Nutritional and Metabolic Diseases | 0.800 | 1.000 | 20 | 1993 | 2016 |