TFRC, transferrin receptor, 7037
N. diseases: 359; N. variants: 40
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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 196080754 | intron variant | T/C | snv | 0.49 |
|
0.800 | 1.000 | 2 | 2012 | 2018 | ||||||||||
|
3 | 196070705 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
3 | 196082268 | upstream gene variant | G/A | snv | 0.31 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
3 | 196073396 | intron variant | C/T | snv | 0.48 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
3 | 196061376 | intron variant | G/A | snv | 0.48 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
3 | 196061276 | intron variant | T/C | snv | 0.48 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
3 | 196066841 | intron variant | G/A | snv | 0.48 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
3 | 196063420 | non coding transcript exon variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
3 | 196054635 | intron variant | G/A | snv | 0.30 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
3 | 196071076 | intron variant | G/A;C | snv | 0.48 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
0.882 | 0.240 | 3 | 196073940 | missense variant | C/T | snv | 0.45 | 0.43 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
3 | 196058126 | non coding transcript exon variant | G/A | snv | 0.32 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
3 | 196050105 | 3 prime UTR variant | T/C | snv | 0.32 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
3 | 196066524 | intron variant | G/C | snv | 0.19 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
3 | 196069178 | intron variant | G/T | snv | 0.19 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
3 | 196053838 | intron variant | G/A | snv | 0.32 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
3 | 196082693 | upstream gene variant | A/G | snv | 0.19 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
3 | 196067108 | intron variant | T/C | snv | 0.30 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
3 | 196060437 | non coding transcript exon variant | C/G | snv | 0.48 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
3 | 196067370 | intron variant | A/T | snv | 0.48 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
3 | 196073676 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
3 | 196073732 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 |