ELN, elastin, 2006
N. diseases: 545; N. variants: 61
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.040 | 7 | 74051747 | splice region variant | C/G;T | snv | 1.2E-05 |
|
Cardiovascular Diseases | 0.700 | 1.000 | 3 | 1997 | 2007 | |||||||
|
1.000 | 0.040 | 7 | 74056680 | stop gained | C/T | snv |
|
Cardiovascular Diseases | 0.700 | 1.000 | 2 | 1997 | 2000 | ||||||||
|
0.925 | 0.040 | 7 | 74054770 | splice donor variant | G/A | snv | 6.0E-05 | 6.3E-05 |
|
Cardiovascular Diseases | 0.700 | 1.000 | 2 | 1997 | 2000 | ||||||
|
1.000 | 0.040 | 7 | 74046768 | splice donor variant | GT/AG | mnv |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2000 | 2000 | ||||||||
|
1.000 | 0.040 | 7 | 74045182 | splice acceptor variant | CCTGCCTTCCTACACTCACTGCTTTGTCCCCCGGCAGG/- | delins |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2000 | 2000 | ||||||||
|
1.000 | 0.040 | 7 | 74051748 | splice acceptor variant | A/G | snv |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 1997 | 1997 | ||||||||
|
1.000 | 0.040 | 7 | 74060495 | frameshift variant | G/- | delins |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 1997 | 1997 | ||||||||
|
1.000 | 0.040 | 7 | 74028189 | start lost | T/C | snv |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.040 | 7 | 74060184 | stop gained | C/G;T | snv | 4.0E-06 |
|
Cardiovascular Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.040 | 7 | 74043901 | stop gained | C/A;G | snv |
|
Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 7 | 74045278 | stop gained | A/T | snv |
|
Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 7 | 74048146 | stop gained | T/A;C | snv |
|
Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 7 | 74037711 | frameshift variant | G/- | delins |
|
Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 7 | 74042675 | frameshift variant | GC/- | delins |
|
Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 7 | 74043124 | frameshift variant | T/- | del |
|
Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 7 | 74046758 | stop gained | A/T | snv |
|
Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 7 | 74051978 | missense variant | A/G | snv |
|
Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 7 | 74063229 | splice region variant | G/A;C | snv |
|
Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 7 | 74053251 | frameshift variant | C/- | delins |
|
Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 7 | 74056347 | frameshift variant | C/- | del |
|
Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 7 | 74028228 | frameshift variant | -/C | delins |
|
Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 7 | 74035411 | frameshift variant | C/- | delins |
|
Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 7 | 74043883 | frameshift variant | G/- | delins |
|
Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 7 | 74048195 | frameshift variant | G/- | delins |
|
Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 7 | 74051808 | frameshift variant | -/G | delins |
|
Cardiovascular Diseases | 0.700 | 0 |