BEST1, bestrophin 1, 7439
N. diseases: 292; N. variants: 152
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
11 | 61955173 | synonymous variant | C/A | snv | 0.21 | 0.11 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
11 | 61946118 | upstream gene variant | A/G | snv | 0.28 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
11 | 61956387 | intron variant | G/C | snv | 0.88 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
11 | 61964505 | 3 prime UTR variant | G/A;C;T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
11 | 61954793 | intron variant | C/A | snv | 0.88 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
11 | 61961591 | non coding transcript exon variant | C/T | snv | 0.81 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
11 | 61960319 | non coding transcript exon variant | G/A | snv | 0.80 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
11 | 61959399 | non coding transcript exon variant | G/A;C;T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
11 | 61958625 | non coding transcript exon variant | T/G | snv | 0.86 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
11 | 61957042 | intron variant | C/G;T | snv | 0.91 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
11 | 61956531 | intron variant | C/T | snv | 0.84 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
11 | 61956084 | intron variant | A/G | snv | 0.88 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
11 | 61955366 | 5 prime UTR variant | T/A | snv | 0.88 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
11 | 61954112 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
11 | 61954740 | intron variant | G/T | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
11 | 61951554 | intron variant | G/A | snv | 5.4E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
11 | 61957703 | intron variant | G/A | snv | 0.84 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
11 | 61957702 | intron variant | T/C | snv | 0.84 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
11 | 61957315 | intron variant | G/T | snv | 6.0E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
11 | 61950135 | 5 prime UTR variant | C/T | snv | 0.16 |
|
0.700 | 1.000 | 1 | 2012 | 2012 |