BLM, BLM RecQ like helicase, 641
N. diseases: 158; N. variants: 139
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
15 | 90760758 | frameshift variant | C/- | del |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 | |||||||||||||
|
15 | 90760871 | frameshift variant | T/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 | |||||||||||||
|
0.776 | 0.320 | 15 | 90761015 | stop gained | C/A;T | snv | 4.1E-06; 1.4E-04 | 1.7E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 12 | 2007 | 2016 | ||||||
|
1.000 | 0.120 | 15 | 90763016 | stop gained | C/T | snv | 4.4E-05 | 8.4E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 4 | 2007 | 2016 | ||||||
|
1.000 | 0.120 | 15 | 90766923 | frameshift variant | ATCTGA/TAGATTC | delins | 2.0E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 11 | 1995 | 2013 | |||||||
|
1.000 | 0.120 | 15 | 90769537 | frameshift variant | AG/- | del | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 1 | 2007 | 2007 | |||||||
|
1.000 | 0.120 | 15 | 90790747 | frameshift variant | C/- | delins | 1.4E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 1 | 2007 | 2007 | |||||||
|
1.000 | 0.120 | 15 | 90794175 | frameshift variant | G/- | del | 1.2E-05 | 2.1E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 2 | 2007 | 2015 | ||||||
|
1.000 | 0.120 | 15 | 90794311 | missense variant | G/A;C | snv | 4.0E-06; 8.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 4 | 1995 | 2007 | |||||||
|
1.000 | 0.120 | 15 | 90803721 | splice donor variant | G/A;T | snv | 4.0E-06; 2.4E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 2 | 2014 | 2015 |