C1GALT1, core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1, 56913
N. diseases: 44; N. variants: 9
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 | 0.080 | 7 | 7210116 | intron variant | A/G | snv | 8.5E-02 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1.000 | 0.040 | 7 | 7237584 | intron variant | C/G | snv | 1.0E-01 |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1.000 | 0.040 | 7 | 7237584 | intron variant | C/G | snv | 1.0E-01 |
|
Respiratory Tract Diseases | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1.000 | 0.040 | 7 | 7237584 | intron variant | C/G | snv | 1.0E-01 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
7 | 7216859 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
7 | 7216859 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
7 | 7230381 | intron variant | A/T | snv | 0.55 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1.000 | 0.120 | 7 | 7233928 | intron variant | G/A;T | snv |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.120 | 7 | 7243938 | 3 prime UTR variant | G/A | snv | 0.22 |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases | 0.010 | < 0.001 | 1 | 2015 | 2015 | |||||||
|
0.925 | 0.120 | 7 | 7243938 | 3 prime UTR variant | G/A | snv | 0.22 |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1.000 | 0.120 | 7 | 7233965 | intron variant | -/C | delins | 7.6E-02 |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1.000 | 0.120 | 7 | 7234516 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
1.000 | 0.120 | 7 | 7242918 | intron variant | A/G | snv | 0.30 |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 |