HLA-C, major histocompatibility complex, class I, C, 3107
N. diseases: 409; N. variants: 25
Source: BEFREE ×
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.827 | 0.240 | 6 | 31273255 | intron variant | A/G | snv | 0.15 |
|
Skin and Connective Tissue Diseases; Immune System Diseases; Chemically-Induced Disorders; Stomatognathic Diseases | 0.720 | 1.000 | 2 | 2017 | 2018 | |||||||
|
0.827 | 0.240 | 6 | 31273255 | intron variant | A/G | snv | 0.15 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.020 | 1.000 | 2 | 2017 | 2018 | |||||||
|
1.000 | 0.040 | 6 | 31269031 | 3 prime UTR variant | C/A;G | snv |
|
Eye Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 6 | 31269495 | missense variant | G/A;C;T | snv | 7.2E-05 |
|
Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.925 | 0.080 | 6 | 31271630 | missense variant | G/A;T | snv | 0.37 |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.925 | 0.080 | 6 | 31271630 | missense variant | G/A;T | snv | 0.37 |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.925 | 0.080 | 6 | 31271285 | missense variant | C/G;T | snv |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.925 | 0.080 | 6 | 31271285 | missense variant | C/G;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.080 | 6 | 31271640 | missense variant | C/A;G;T | snv | 0.37 |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1.000 | 0.080 | 6 | 31271784 | missense variant | T/C | snv |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.040 | 6 | 31271780 | synonymous variant | G/A | snv |
|
Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.882 | 0.080 | 6 | 31271730 | missense variant | G/C | snv |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications | 0.010 | < 0.001 | 1 | 2002 | 2002 | ||||||||
|
0.882 | 0.080 | 6 | 31271730 | missense variant | G/C | snv |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications | 0.010 | < 0.001 | 1 | 2002 | 2002 | ||||||||
|
0.882 | 0.080 | 6 | 31271730 | missense variant | G/C | snv |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications | 0.010 | < 0.001 | 1 | 2002 | 2002 | ||||||||
|
1.000 | 0.080 | 6 | 31271696 | missense variant | C/A;T | snv |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.080 | 6 | 31271690 | stop gained | C/T | snv |
|
Cardiovascular Diseases | 0.010 | < 0.001 | 1 | 2005 | 2005 | ||||||||
|
0.925 | 0.080 | 6 | 31271690 | stop gained | C/T | snv |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.010 | < 0.001 | 1 | 2005 | 2005 | ||||||||
|
1.000 | 0.080 | 6 | 31271300 | missense variant | C/A;G | snv | 4.1E-06 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1.000 | 0.040 | 6 | 31271267 | missense variant | T/C | snv | 4.0E-05 |
|
Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1.000 | 0.040 | 6 | 31271236 | synonymous variant | C/T | snv |
|
Infections | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
1.000 | 0.040 | 6 | 31271187 | missense variant | G/A;C;T | snv |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 1997 | 1997 | ||||||||
|
1.000 | 0.080 | 6 | 31270435 | missense variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
1.000 | 0.040 | 6 | 31270363 | stop gained | G/A;T | snv |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 1997 | 1997 | ||||||||
|
1.000 | 0.080 | 6 | 31270339 | missense variant | C/T | snv |
|
Neoplasms; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
6 | 31270083 | missense variant | G/A;T | snv |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 |