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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
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 | ||||||||||
|
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 | ||||||||||
|
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 | |||||||||||
|
10 | 98423772 | stop gained | G/A | snv | 4.0E-06 |
|
Infections | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
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 | ||||||||||
|
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 | |||||||||
|
1.000 | 0.040 | 10 | 98425560 | missense variant | C/T | snv | 7.0E-06 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
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 | |||||||
|
1.000 | 0.080 | 10 | 98425662 | missense variant | A/G | snv |
|
Nervous System Diseases; Mental Disorders | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 10 | 98433988 | missense variant | C/A;T | snv | 6.0E-06 |
|
Nervous System Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
1.000 | 0.080 | 10 | 98433988 | missense variant | C/A;T | snv | 6.0E-06 |
|
Nervous System Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
1.000 | 0.080 | 10 | 98429850 | missense variant | C/A;T | snv | 1.2E-05; 4.8E-05 |
|
Nervous System Diseases; Mental Disorders | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.080 | 10 | 98445350 | 5 prime UTR variant | G/T | snv | 0.28 |
|
Nervous System Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1.000 | 0.080 | 10 | 98445350 | 5 prime UTR variant | G/T | snv | 0.28 |
|
Nervous System Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 |