NSD1, nuclear receptor binding SET domain protein 1, 64324
N. diseases: 247; N. variants: 271
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 | 5 | 177295333 | frameshift variant | GACA/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 5 | 177210738 | stop gained | C/A;T | snv | 1.2E-03 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 0 | ||||||||||
|
1.000 | 0.040 | 5 | 177257077 | missense variant | A/G | snv | 8.7E-05 | 3.7E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 0 | |||||||||
|
0.925 | 0.040 | 5 | 177210749 | stop gained | C/G;T | snv | 1.6E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 0 | ||||||||||
|
1.000 | 0.040 | 5 | 177257029 | missense variant | A/C;G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 5 | 177267692 | frameshift variant | TCTG/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 0 | |||||||||||
|
0.925 | 0.040 | 5 | 177246710 | stop gained | C/G;T | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 0 | ||||||||||
|
1.000 | 0.040 | 5 | 177204132 | frameshift variant | G/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 5 | 177209661 | stop gained | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 5 | 177209854 | frameshift variant | T/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 0 | |||||||||||
|
0.925 | 0.040 | 5 | 177210209 | stop gained | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 5 | 177210410 | frameshift variant | ACAGA/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 5 | 177210444 | frameshift variant | A/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 5 | 177210446 | frameshift variant | GATAA/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 5 | 177210462 | frameshift variant | G/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 5 | 177210520 | frameshift variant | TACA/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 5 | 177210675 | stop gained | C/A;G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 5 | 177210694 | frameshift variant | C/- | del |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 5 | 177210782 | frameshift variant | GAAA/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 5 | 177211037 | frameshift variant | G/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 5 | 177211053 | stop gained | C/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 5 | 177211223 | frameshift variant | G/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 5 | 177211351 | frameshift variant | CT/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 5 | 177211355 | frameshift variant | G/- | del |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 5 | 177211442 | frameshift variant | GT/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 0 |