SLC17A1, solute carrier family 17 member 1, 6568
N. diseases: 23; N. variants: 164
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.200 | 6 | 25812922 | missense variant | G/A | snv | 0.62 | 0.66 |
|
0.800 | 1.000 | 4 | 2009 | 2018 | |||||||
|
0.882 | 0.200 | 6 | 25794203 | intron variant | A/G | snv | 0.66 |
|
0.800 | 1.000 | 3 | 2009 | 2019 | ||||||||
|
0.925 | 0.120 | 6 | 25821388 | intron variant | T/A;G | snv |
|
0.800 | 1.000 | 2 | 2009 | 2013 | |||||||||
|
0.925 | 0.120 | 6 | 25818538 | intron variant | A/C;G;T | snv |
|
0.800 | 1.000 | 2 | 2009 | 2015 | |||||||||
|
0.925 | 0.120 | 6 | 25827288 | intron variant | A/G | snv | 0.65 |
|
0.800 | 1.000 | 2 | 2009 | 2019 | ||||||||
|
0.925 | 0.120 | 6 | 25801091 | intron variant | G/A | snv | 0.66 |
|
0.800 | 1.000 | 2 | 2009 | 2015 | ||||||||
|
0.925 | 0.120 | 6 | 25776721 | missense variant | G/A | snv | 0.36 | 0.32 |
|
0.800 | 1.000 | 2 | 2009 | 2011 | |||||||
|
0.925 | 0.120 | 6 | 25823216 | intron variant | A/T | snv | 0.65 |
|
0.800 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.925 | 0.120 | 6 | 25811841 | intron variant | A/G | snv | 3.7E-02 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.925 | 0.120 | 6 | 25817561 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
0.925 | 0.120 | 6 | 25830070 | intron variant | A/G | snv | 0.65 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.925 | 0.120 | 6 | 25829431 | intron variant | T/A | snv | 0.65 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.882 | 0.200 | 6 | 25798704 | 3 prime UTR variant | G/A | snv | 0.66 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.925 | 0.120 | 6 | 25818418 | intron variant | G/C | snv | 0.66 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.925 | 0.120 | 6 | 25818360 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
0.925 | 0.120 | 6 | 25831375 | intron variant | A/G | snv | 0.65 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
6 | 25758838 | intron variant | G/T | snv | 0.32 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
0.882 | 0.200 | 6 | 25785707 | intron variant | G/A | snv | 0.32 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.925 | 0.120 | 6 | 25829405 | intron variant | A/T | snv | 0.27 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.925 | 0.120 | 6 | 25801743 | intron variant | C/T | snv | 0.28 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.925 | 0.120 | 6 | 25809488 | intron variant | C/A | snv | 0.34 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.120 | 6 | 25826758 | intron variant | T/A | snv | 0.26 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.882 | 0.200 | 6 | 25783681 | intron variant | C/T | snv | 0.32 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.882 | 0.200 | 6 | 25786765 | intron variant | C/T | snv | 0.41 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.882 | 0.200 | 6 | 25791126 | intron variant | C/T | snv | 0.28 |
|
0.700 | 1.000 | 1 | 2009 | 2009 |