HPS1, HPS1 biogenesis of lysosomal organelles complex 3 subunit 1, 3257
N. diseases: 64; N. variants: 50
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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.200 | 10 | 98425687 | frameshift variant | G/- | delins | 7.2E-05 | 1.2E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 6 | 1998 | 2016 | ||||||
|
0.925 | 0.200 | 10 | 98427230 | frameshift variant | G/-;GG | delins | 1.3E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 5 | 1996 | 2019 | |||||||
|
0.925 | 0.200 | 10 | 98423797 | frameshift variant | -/CTCCCCTGCTGGGGGC | delins | 2.8E-05 | 3.6E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 2 | 1996 | 2011 | ||||||
|
10 | 98416397 | 3 prime UTR variant | C/T | snv | 0.35 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
10 | 98428349 | intron variant | G/A | snv | 0.27 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
1.000 | 0.040 | 10 | 98419517 | intron variant | C/A;T | snv |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 10 | 98419517 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.925 | 0.200 | 10 | 98417671 | stop gained | C/A;T | snv | 8.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
10 | 98422090 | intron variant | T/C | snv | 0.17 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
10 | 98416582 | 3 prime UTR variant | A/G | snv | 0.46 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
10 | 98423813 | missense variant | G/C;T | snv | 0.11; 4.8E-05 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
10 | 98422528 | intron variant | T/C | snv | 0.27 | 0.22 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
10 | 98420094 | missense variant | T/A;C | snv | 1.0E-01 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
0.925 | 0.200 | 10 | 98425687 | frameshift variant | G/- | delins | 7.2E-05 | 1.2E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1.000 | 0.200 | 10 | 98420160 | splice acceptor variant | T/G | snv | 1.2E-05 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
10 | 98415824 | upstream gene variant | G/A | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
10 | 98415897 | upstream gene variant | C/T | snv | 0.27 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
10 | 98417091 | 3 prime UTR variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||||
|
10 | 98416858 | 3 prime UTR variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||||
|
1.000 | 0.040 | 10 | 98417112 | 3 prime UTR variant | C/T | snv | 0.39 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.040 | 10 | 98417112 | 3 prime UTR variant | C/T | snv | 0.39 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
10 | 98426844 | intron variant | G/A | snv | 0.37 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
10 | 98415720 | upstream gene variant | A/G | snv | 0.38 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
0.925 | 0.200 | 10 | 98417671 | stop gained | C/A;T | snv | 8.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases | 0.700 | 0 | ||||||||||
|
0.925 | 0.200 | 10 | 98435273 | stop gained | C/A;T | snv | 3.6E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases | 0.700 | 0 |