RS116920018 DOCK8
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Associated Conditions
Combined immunodeficiency due to DOCK8 deficiency
DOCK8-related disorder
Intellectual disability
Ovarian serous cystadenocarcinoma
Thymoma
Thyroid cancer
nonmedullary
1
Melanoma
Familial cancer of breast
Lung cancer
Combined immunodeficiency due to DOCK8 deficiency
DOCK8-related disorder
Intellectual disability
Ovarian serous cystadenocarcinoma
GWAS Studies (6)
| Trait | Risk Allele | OR / Beta | P-value | Study |
|---|---|---|---|---|
| Platelet distribution width | — | OR: 0.21 | 1E-55 | PubMed |
| Platelet distribution width (UKB data field 30110) | G | OR: 0.2 | 2E-51 | PubMed |
| Mean platelet volume | — | OR: 0.17 | 2E-37 | PubMed |
| Platelet distribution width | G | OR: 0.21 | 3E-36 | PubMed |
| Mean platelet thrombocyte volume (UKB data field 30100) | G | OR: 0.15 | 4E-34 | PubMed |
| Mean platelet volume | G | OR: 0.13 | 1E-14 | PubMed |
Population Frequencies
gnomAD ALL
0.4%
1kG AFR
100%
1kG ALL
99.9%
1kG AMR
0.4%
1kG EAS
100%
1kG EUR
0.2%
1kG SAS
0.2%
Other Variants in DOCK8