RS149617956 MITF
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Associated Conditions
Melanoma
cutaneous malignant
susceptibility to
8
Hereditary cancer-predisposing syndrome
Waardenburg syndrome type 2A
Tietz syndrome
Coloboma
osteopetrosis
microphthalmia
macrocephaly
albinism
and deafness
MITF-related disorder
Familial melanoma
GWAS Studies (20)
| Trait | Risk Allele | OR / Beta | P-value | Study |
|---|---|---|---|---|
| Melanomas of skin (PheCode 172.11) | G | OR: 0.99 | 7E-33 | PubMed |
| Melanomas of skin (PheCode 172.11) | G | OR: 0.99 | 5E-29 | PubMed |
| Cutaneous malignant melanoma | A | OR: 2.63 | 5E-25 | PubMed |
| creatinine (minimum, inv-norm transformed) | G | OR: 0.22 | 1E-22 | PubMed |
| estimated glomerular filtration rate (eGFR, mean, inv-norm transformed) | G | OR: 0.21 | 2E-22 | PubMed |
| creatinine (mean, inv-norm transformed) | G | OR: 0.21 | 4E-22 | PubMed |
| estimated glomerular filtration rate (eGFR, maximum, inv-norm transformed) | G | OR: 0.21 | 3E-21 | PubMed |
| Melanomas of skin, dx or hx (PheCode 172.1) | G | OR: 0.48 | 1E-19 | PubMed |
| Melanomas of skin, dx or hx (PheCode 172.1) | G | OR: 0.49 | 7E-17 | PubMed |
| Cystatin C levels | — | OR: 0.13 | 1E-16 | PubMed |
| Skin cancer | G | OR: 0.33 | 8E-15 | PubMed |
| creatinine (maximum, inv-norm transformed) | G | OR: 0.16 | 5E-14 | PubMed |
| estimated glomerular filtration rate (eGFR, minimum, inv-norm transformed) | G | OR: 0.15 | 3E-13 | PubMed |
| Neoplasm of uncertain behavior of skin (PheCode 173) | G | OR: 0.34 | 2E-12 | PubMed |
| Creatinine levels | — | OR: 0.11 | 2E-11 | PubMed |
| Nevus, non-neoplastic (PheCode 217.1) | G | OR: 0.58 | 3E-11 | PubMed |
| Hemoglobin levels | A | OR: 0.1 | 3E-9 | PubMed |
| Serum alkaline phosphatase levels | — | β: 0.086 | 4E-9 | PubMed |
| Melanoma x citrus consumption interaction (2df) | — | — | 2E-8 | PubMed |
| Retinal vascular fractal dimension | A | OR: 0.28 | 3E-6 | PubMed |
Other Variants in MITF