Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519326
rs1057519326
Entrez Id: 4286
Gene Symbol: MITF
MITF
CUI: C4310625
Disease:
COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS 		G 0.800 CausalMutation CLINVAR
dbSNP: rs1057519326
rs1057519326
Entrez Id: 4286
Gene Symbol: MITF
MITF
CUI: C4310625
Disease:
COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS 		0.800 GeneticVariation UNIPROT
dbSNP: rs149617956
rs149617956
Entrez Id: 4286
Gene Symbol: MITF
MITF
CUI: C3152204
Disease:
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8 		A 0.800 SusceptibilityMutation CLINVAR
dbSNP: rs149617956
rs149617956
Entrez Id: 4286
Gene Symbol: MITF
MITF
CUI: C3152204
Disease:
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8 		0.800 GeneticVariation UNIPROT
dbSNP: rs56038322
rs56038322
Entrez Id: 4286
Gene Symbol: MITF
MITF
CUI: C1305855
Disease:
Body mass index 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs62252216
rs62252216
Entrez Id: 4286
Gene Symbol: MITF
MITF
CUI: C0014772
Disease:
Red Blood Cell Count measurement 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs62253174
rs62253174
Entrez Id: 4286
Gene Symbol: MITF
MITF
CUI: C0023508
Disease:
White Blood Cell Count procedure 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs7623486
rs7623486
Entrez Id: 4286
Gene Symbol: MITF
MITF
CUI: C0202117
Disease:
Low density lipoprotein cholesterol measurement 		A 0.700 GeneticVariation GWASCAT Analysis of pleiotropic genetic effects on cognitive impairment, systemic inflammation, and plasma lipids in the Health and Retirement Study. 31201950 2019
dbSNP: rs1057517966
rs1057517966
Entrez Id: 4286
Gene Symbol: MITF
MITF
CUI: C1860339
Disease:
WAARDENBURG SYNDROME, TYPE IIA 		T 0.700 GeneticVariation CLINVAR Waardenburg syndrome: Novel mutations in a large Brazilian sample. 29407415 2018
dbSNP: rs12639523
rs12639523
Entrez Id: 4286
Gene Symbol: MITF
MITF
CUI: C0596887
Disease:
mathematical ability 		A 0.700 GeneticVariation GWASCAT Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals. 30038396 2018
dbSNP: rs1553702006
rs1553702006
Entrez Id: 4286
Gene Symbol: MITF
MITF
CUI: C1860339
Disease:
WAARDENBURG SYNDROME, TYPE IIA 		T 0.700 GeneticVariation CLINVAR Waardenburg syndrome: Novel mutations in a large Brazilian sample. 29407415 2018
dbSNP: rs1553704814
rs1553704814
Entrez Id: 4286
Gene Symbol: MITF
MITF
CUI: C3266898
Disease:
Waardenburg Syndrome 		C 0.700 CausalMutation CLINVAR Prenatal diagnosis and genetic counseling for Waardenburg syndrome type I and II in Chinese families. 29115496 2018
dbSNP: rs1553704814
rs1553704814
Entrez Id: 4286
Gene Symbol: MITF
MITF
CUI: C3266898
Disease:
Waardenburg Syndrome 		C 0.700 CausalMutation CLINVAR Wnt signaling pathway involvement in genotypic and phenotypic variations in Waardenburg syndrome type 2 with MITF mutations. 29531335 2018
dbSNP: rs9825958
rs9825958
Entrez Id: 4286
Gene Symbol: MITF
MITF
CUI: C0018498
Disease:
Hair Color 		T 0.700 GeneticVariation GWASCAT Genome-wide study of hair colour in UK Biobank explains most of the SNP heritability. 30531825 2018
dbSNP: rs1553704814
rs1553704814
Entrez Id: 4286
Gene Symbol: MITF
MITF
CUI: C3266898
Disease:
Waardenburg Syndrome 		C 0.700 CausalMutation CLINVAR Creation of miniature pig model of human Waardenburg syndrome type 2A by ENU mutagenesis. 29094203 2017
dbSNP: rs13314892
rs13314892
Entrez Id: 4286
Gene Symbol: MITF
MITF
CUI: C0429097
Disease:
QRS complex feature 		0.700 GeneticVariation GWASCAT 52 Genetic Loci Influencing Myocardial Mass. 27659466 2016
dbSNP: rs149617956
rs149617956
Entrez Id: 4286
Gene Symbol: MITF
MITF
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer. 27153395 2016
dbSNP: rs149617956
rs149617956
Entrez Id: 4286
Gene Symbol: MITF
MITF
CUI: C1836806
Disease:
Mild microcephaly 		A 0.700 CausalMutation CLINVAR Prevalence of MITF p.E318K in Patients With Melanoma Independent of the Presence of CDKN2A Causative Mutations. 26650189 2016
dbSNP: rs149617956
rs149617956
Entrez Id: 4286
Gene Symbol: MITF
MITF
CUI: C0026351
Disease:
Moderate intellectual disability 		A 0.700 CausalMutation CLINVAR Prevalence of MITF p.E318K in Patients With Melanoma Independent of the Presence of CDKN2A Causative Mutations. 26650189 2016
dbSNP: rs149617956
rs149617956
Entrez Id: 4286
Gene Symbol: MITF
MITF
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Prevalence of MITF p.E318K in Patients With Melanoma Independent of the Presence of CDKN2A Causative Mutations. 26650189 2016
dbSNP: rs149617956
rs149617956
Entrez Id: 4286
Gene Symbol: MITF
MITF
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Multiple primary melanomas (MPMs) and criteria for genetic assessment: MultiMEL, a multicenter study of the Italian Melanoma Intergroup. 26775776 2016
dbSNP: rs149617956
rs149617956
Entrez Id: 4286
Gene Symbol: MITF
MITF
CUI: C1837463
Disease:
Narrow face 		A 0.700 CausalMutation CLINVAR Prevalence of MITF p.E318K in Patients With Melanoma Independent of the Presence of CDKN2A Causative Mutations. 26650189 2016
dbSNP: rs149617956
rs149617956
Entrez Id: 4286
Gene Symbol: MITF
MITF
CUI: C0391816
Disease:
Tietz syndrome 		A 0.700 CausalMutation CLINVAR Genetic susceptibility to cutaneous melanoma in southern Switzerland: role of CDKN2A, MC1R and MITF. 27473757 2016
dbSNP: rs149617956
rs149617956
Entrez Id: 4286
Gene Symbol: MITF
MITF
CUI: C1263846
Disease:
Attention deficit hyperactivity disorder 		A 0.700 CausalMutation CLINVAR Prevalence of MITF p.E318K in Patients With Melanoma Independent of the Presence of CDKN2A Causative Mutations. 26650189 2016
dbSNP: rs149617956
rs149617956
Entrez Id: 4286
Gene Symbol: MITF
MITF
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Characterization of patients at high risk of melanoma in Austria. 26800492 2016