EFEMP2, EGF containing fibulin extracellular matrix protein 2, 30008
N. diseases: 126; N. variants: 14
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 | 11 | 65867921 | frameshift variant | G/-;GG | delins |
|
0.700 | 1.000 | 2 | 1991 | 2016 | ||||||||||
|
0.882 | 0.040 | 11 | 65873562 | 5 prime UTR variant | G/C | snv | 0.45 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.882 | 0.040 | 11 | 65873562 | 5 prime UTR variant | G/C | snv | 0.45 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.882 | 0.040 | 11 | 65873562 | 5 prime UTR variant | G/C | snv | 0.45 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
11 | 65871903 | non coding transcript exon variant | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
1.000 | 11 | 65869977 | splice acceptor variant | C/G | snv |
|
0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||||
|
1.000 | 11 | 65868522 | missense variant | G/A | snv |
|
0.700 | 0 | |||||||||||||
|
1.000 | 11 | 65868557 | missense variant | C/T | snv |
|
0.700 | 0 | |||||||||||||
|
1.000 | 11 | 65867061 | missense variant | C/T | snv |
|
0.700 | 0 | |||||||||||||
|
1.000 | 11 | 65870649 | missense variant | T/A | snv |
|
0.700 | 0 | |||||||||||||
|
1.000 | 11 | 65870151 | frameshift variant | G/- | delins |
|
0.700 | 0 | |||||||||||||
|
1.000 | 11 | 65869905 | missense variant | G/A | snv |
|
0.700 | 0 | |||||||||||||
|
1.000 | 11 | 65867957 | frameshift variant | -/GGGC | delins | 4.0E-06 |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | 11 | 65871355 | missense variant | C/T | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.925 | 0.080 | 11 | 65871355 | missense variant | C/T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | 11 | 65870650 | missense variant | C/G;T | snv | 4.0E-06; 1.2E-05 |
|
0.700 | 0 | ||||||||||||
|
1.000 | 11 | 65869976 | missense variant | T/G | snv | 8.0E-06 |
|
0.700 | 0 |