TMPRSS6, transmembrane serine protease 6, 164656
N. diseases: 113; N. variants: 86
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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
22 | 37091770 | intron variant | A/G | snv | 0.45 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
22 | 37098875 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||||||
|
22 | 37090225 | intron variant | G/A | snv | 0.15 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
22 | 37074564 | intron variant | G/A | snv | 0.53 | 0.59 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
22 | 37066886 | synonymous variant | G/A | snv | 0.36 | 0.38 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
22 | 37089153 | intron variant | T/C | snv | 0.40 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
22 | 37094652 | intron variant | C/T | snv | 0.42 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
22 | 37099330 | intron variant | G/A | snv | 0.17 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
22 | 37099510 | intron variant | C/T | snv | 0.18 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
22 | 37094651 | intron variant | A/G | snv | 0.42 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
22 | 37095799 | intron variant | A/G | snv | 0.43 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
22 | 37094356 | intron variant | A/G | snv | 0.43 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
22 | 37093234 | intron variant | G/C | snv | 0.43 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
22 | 37095505 | intron variant | T/A;C;G | snv | 0.40; 4.0E-06 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
0.851 | 0.160 | 22 | 37073551 | missense variant | G/A;C | snv | 0.53; 4.0E-06 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
22 | 37071230 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||||||
|
22 | 37071314 | intron variant | G/C | snv | 0.49 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
22 | 37071352 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||||||
|
22 | 37082735 | non coding transcript exon variant | A/G | snv | 0.23 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
22 | 37100370 | intron variant | G/A | snv | 0.36 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
22 | 37098278 | intron variant | T/C | snv | 0.17 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
22 | 37090165 | intron variant | T/C | snv | 0.48 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
22 | 37098681 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||||||
|
22 | 37078039 | intron variant | G/A | snv | 0.51 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
22 | 37100807 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2009 | 2009 |