SLC20A2, solute carrier family 20 member 2, 6575
N. diseases: 104; N. variants: 36
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.080 | 8 | 42417960 | missense variant | G/A;C | snv | 4.0E-06 |
|
Nutritional and Metabolic Diseases; Nervous System Diseases | 0.800 | 1.000 | 8 | 2005 | 2014 | |||||||
|
0.882 | 0.120 | 8 | 42428829 | stop gained | C/A;T | snv |
|
Nutritional and Metabolic Diseases; Nervous System Diseases | 0.800 | 1.000 | 8 | 2005 | 2014 | ||||||||
|
1.000 | 0.080 | 8 | 42428768 | missense variant | G/A | snv |
|
Nutritional and Metabolic Diseases; Nervous System Diseases | 0.800 | 1.000 | 8 | 2005 | 2014 | ||||||||
|
1.000 | 0.080 | 8 | 42437211 | missense variant | G/C | snv |
|
Nutritional and Metabolic Diseases; Nervous System Diseases | 0.700 | 1.000 | 8 | 2005 | 2014 | ||||||||
|
1.000 | 0.080 | 8 | 42428841 | missense variant | C/T | snv |
|
Nutritional and Metabolic Diseases; Nervous System Diseases | 0.700 | 1.000 | 8 | 2005 | 2014 | ||||||||
|
1.000 | 0.080 | 8 | 42472309 | missense variant | C/T | snv |
|
Nutritional and Metabolic Diseases; Nervous System Diseases | 0.700 | 1.000 | 8 | 2005 | 2014 | ||||||||
|
1.000 | 0.080 | 8 | 42437367 | missense variant | C/T | snv | 1.2E-05 | 2.8E-05 |
|
Nutritional and Metabolic Diseases; Nervous System Diseases | 0.700 | 1.000 | 8 | 2005 | 2014 | ||||||
|
1.000 | 0.080 | 8 | 42472360 | missense variant | T/A;G | snv | 4.0E-06 | 7.0E-06 |
|
Nutritional and Metabolic Diseases; Nervous System Diseases | 0.700 | 1.000 | 8 | 2005 | 2014 | ||||||
|
1.000 | 0.080 | 8 | 42459928 | missense variant | T/C | snv | 8.0E-06 | 1.4E-05 |
|
Nutritional and Metabolic Diseases; Nervous System Diseases | 0.700 | 1.000 | 8 | 2005 | 2014 | ||||||
|
1.000 | 0.080 | 8 | 42430070 | missense variant | G/A | snv | 1.2E-05 |
|
Nutritional and Metabolic Diseases; Nervous System Diseases | 0.700 | 1.000 | 8 | 2005 | 2014 | |||||||
|
1.000 | 0.080 | 8 | 42465863 | missense variant | G/A | snv | 7.0E-06 |
|
Nutritional and Metabolic Diseases; Nervous System Diseases | 0.700 | 1.000 | 8 | 2005 | 2014 | |||||||
|
1.000 | 0.080 | 8 | 42417968 | splice acceptor variant | C/T | snv |
|
Nutritional and Metabolic Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 8 | 42436991 | frameshift variant | AC/- | delins |
|
Nutritional and Metabolic Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.882 | 0.120 | 8 | 42437137 | stop gained | C/A | snv |
|
Nutritional and Metabolic Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 8 | 42437316 | missense variant | T/G | snv |
|
Nutritional and Metabolic Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 8 | 42465904 | frameshift variant | C/- | delins |
|
Nutritional and Metabolic Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 8 | 42472203 | missense variant | C/T | snv |
|
Nutritional and Metabolic Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 8 | 42472204 | missense variant | C/T | snv |
|
Nutritional and Metabolic Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 8 | 42472370 | frameshift variant | C/- | del |
|
Nutritional and Metabolic Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 8 | 42463012 | frameshift variant | A/- | delins |
|
Nutritional and Metabolic Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 8 | 42417931 | frameshift variant | GGAG/- | delins |
|
Nutritional and Metabolic Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 8 | 42459925 | frameshift variant | CA/- | delins |
|
Nutritional and Metabolic Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.882 | 0.200 | 8 | 42472255 | stop gained | G/A;C | snv | 4.0E-06 |
|
Nutritional and Metabolic Diseases; Nervous System Diseases | 0.700 | 0 |