Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs149617956
rs149617956
Entrez Id: 4286
Gene Symbol: MITF
MITF
CUI: C4551683
Disease:
Adrenal Gland Pheochromocytoma 		0.010 GeneticVariation BEFREE In the present study, we aimed at determining the prevalence of the MITF, p.E318K variant, in a well-characterized French cohort of pheochromocytomas/paragangliomas (PCC/PGL). 27680874 2016
dbSNP: rs748527966
rs748527966
Entrez Id: 4286
Gene Symbol: MITF
MITF
CUI: C0001916
Disease:
Albinism 		0.010 GeneticVariation BEFREE We demonstrate an association of R45Q and T444I with the albino phenotype by targeted genotyping. 28982372 2017
dbSNP: rs1376096651
rs1376096651
Entrez Id: 4286
Gene Symbol: MITF
MITF
CUI: C0078917
Disease:
Albinism, Ocular 		0.010 GeneticVariation BEFREE Here, we present a second WS2 family with OA and provide evidence suggesting the TYR(R402Q) allele does not cause OA in this family. 19938076 2009
dbSNP: rs1376096651
rs1376096651
Entrez Id: 4286
Gene Symbol: MITF
MITF
CUI: C1845069
Disease:
ALBINISM, OCULAR, WITH LATE-ONSET SENSORINEURAL DEAFNESS (disorder) 		0.010 GeneticVariation BEFREE In this family, all of the individuals with the OA phenotype are either homozygous or heterozygous for TYR(R402Q), and heterozyous for the 1 bp deletion in MITF This suggests that the WS2-OA phenotype may result from digenic interaction between a gene for a transcription factor (MITF) and a gene that it regulates (TYR). 9158138 1997
dbSNP: rs1376096651
rs1376096651
Entrez Id: 4286
Gene Symbol: MITF
MITF
CUI: C1863198
Disease:
ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESS (disorder) 		0.010 GeneticVariation BEFREE In this family, all of the individuals with the OA phenotype are either homozygous or heterozygous for TYR(R402Q), and heterozyous for the 1 bp deletion in MITF This suggests that the WS2-OA phenotype may result from digenic interaction between a gene for a transcription factor (MITF) and a gene that it regulates (TYR). 9158138 1997
dbSNP: rs965705838
rs965705838
Entrez Id: 4286
Gene Symbol: MITF
MITF
CUI: C1876214
Disease:
ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT 		0.010 GeneticVariation BEFREE K36E attenuated α-MSH induced cAMP pathways, contributing to hypopigmentation. 28114924 2017
dbSNP: rs149617956
rs149617956
Entrez Id: 4286
Gene Symbol: MITF
MITF
CUI: C1840077
Disease:
Anteverted nostril 		A 0.700 CausalMutation CLINVAR A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma. 22012259 2011
dbSNP: rs149617956
rs149617956
Entrez Id: 4286
Gene Symbol: MITF
MITF
CUI: C1840077
Disease:
Anteverted nostril 		A 0.700 CausalMutation CLINVAR Molecular characterization of melanoma cases in Denmark suspected of genetic predisposition. 25803691 2015
dbSNP: rs149617956
rs149617956
Entrez Id: 4286
Gene Symbol: MITF
MITF
CUI: C1840077
Disease:
Anteverted nostril 		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: C1840077
Disease:
Anteverted nostril 		A 0.700 CausalMutation CLINVAR Prevalence of the E318K MITF germline mutation in Italian melanoma patients: associations with histological subtypes and family cancer history. 23167872 2013
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: C1263846
Disease:
Attention deficit hyperactivity disorder 		A 0.700 CausalMutation CLINVAR Prevalence of the E318K MITF germline mutation in Italian melanoma patients: associations with histological subtypes and family cancer history. 23167872 2013
dbSNP: rs149617956
rs149617956
Entrez Id: 4286
Gene Symbol: MITF
MITF
CUI: C1263846
Disease:
Attention deficit hyperactivity disorder 		A 0.700 CausalMutation CLINVAR A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma. 22012259 2011
dbSNP: rs149617956
rs149617956
Entrez Id: 4286
Gene Symbol: MITF
MITF
CUI: C1263846
Disease:
Attention deficit hyperactivity disorder 		A 0.700 CausalMutation CLINVAR Molecular characterization of melanoma cases in Denmark suspected of genetic predisposition. 25803691 2015
dbSNP: rs149617956
rs149617956
Entrez Id: 4286
Gene Symbol: MITF
MITF
CUI: C1456781
Disease:
Benign melanocytic nevus 		0.030 GeneticVariation BEFREE We provided genetic evidence that Mitf E318K enhances BRaf V600E -induced nevus formation in vivo (mean nevus number for Mitf E318K , BRaf V600E vs Mitf WT , BRaf V600E , 68 vs 44, difference = 24, 95% CI = 9.1 to 38.9, P  = .006). 28376192 2017
dbSNP: rs149617956
rs149617956
Entrez Id: 4286
Gene Symbol: MITF
MITF
CUI: C1456781
Disease:
Benign melanocytic nevus 		0.030 GeneticVariation BEFREE Phenotypic characterization of nevus and tumor patterns in MITF E318K mutation carrier melanoma patients. 23774529 2014
dbSNP: rs149617956
rs149617956
Entrez Id: 4286
Gene Symbol: MITF
MITF
CUI: C1456781
Disease:
Benign melanocytic nevus 		0.030 GeneticVariation BEFREE In stratified analyses, carriage of MITF E318K was associated with melanoma more strongly in people with dark hair than fair hair (P for interaction, 0.03) and in those with no moles than some or many moles (P for interaction, <0.01). 24406078 2014
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: rs149617956
rs149617956
Entrez Id: 4286
Gene Symbol: MITF
MITF
CUI: C0596263
Disease:
Carcinogenesis 		0.010 GeneticVariation BEFREE The MITF p.E318K mutation does not appear to play a major role in sporadic RCC carcinogenesis, but is possibly restricted to a rare subpopulation of inherited RCC. 26999813 2016
dbSNP: rs1057519325
rs1057519325
Entrez Id: 4286
Gene Symbol: MITF
MITF
CUI: C4310625
Disease:
COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS 		C 0.800 CausalMutation CLINVAR
dbSNP: rs1057519325
rs1057519325
Entrez Id: 4286
Gene Symbol: MITF
MITF
CUI: C4310625
Disease:
COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS 		0.800 GeneticVariation UNIPROT
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: rs1057519327
rs1057519327
Entrez Id: 4286
Gene Symbol: MITF
MITF
CUI: C4310625
Disease:
COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1553704814
rs1553704814
Entrez Id: 4286
Gene Symbol: MITF
MITF
CUI: C4310625
Disease:
COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS 		C 0.700 CausalMutation CLINVAR