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: C3152204
Disease:
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8
A 0.800 GeneticVariation CLINVAR Multigene panel sequencing of established and candidate melanoma susceptibility genes in a large cohort of Dutch non-CDKN2A/CDK4 melanoma families. 30414346 2019
dbSNP: rs104893744
rs104893744
Entrez Id: 4286
Gene Symbol: MITF
MITF
CUI: C1860339
Disease:
WAARDENBURG SYNDROME, TYPE IIA
0.800 GeneticVariation UNIPROT EDNRB mutations cause Waardenburg syndrome type II in the heterozygous state. 28236341 2017
dbSNP: rs104893747
rs104893747
Entrez Id: 4286
Gene Symbol: MITF
MITF
CUI: C1860339
Disease:
WAARDENBURG SYNDROME, TYPE IIA
0.800 GeneticVariation UNIPROT EDNRB mutations cause Waardenburg syndrome type II in the heterozygous state. 28236341 2017
dbSNP: rs149617956
rs149617956
Entrez Id: 4286
Gene Symbol: MITF
MITF
CUI: C3152204
Disease:
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8
A 0.800 GeneticVariation CLINVAR Frequent inactivating germline mutations in DNA repair genes in patients with Ewing sarcoma. 28125078 2017
dbSNP: rs149617956
rs149617956
Entrez Id: 4286
Gene Symbol: MITF
MITF
CUI: C3152204
Disease:
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8
A 0.800 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: C3152204
Disease:
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8
A 0.800 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: C3152204
Disease:
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8
A 0.800 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: C3152204
Disease:
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8
A 0.800 GeneticVariation CLINVAR MITF E318K's effect on melanoma risk independent of, but modified by, other risk factors. 24406078 2014
dbSNP: rs149617956
rs149617956
Entrez Id: 4286
Gene Symbol: MITF
MITF
CUI: C3152204
Disease:
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8
A 0.800 GeneticVariation CLINVAR Prevalence of the E318K and V320I MITF germline mutations in Polish cancer patients and multiorgan cancer risk-a population-based study. 24767713 2014
dbSNP: rs149617956
rs149617956
Entrez Id: 4286
Gene Symbol: MITF
MITF
CUI: C3152204
Disease:
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8
A 0.800 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: C3152204
Disease:
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8
A 0.800 CausalMutation CLINVAR MITF mutations associated with pigment deficiency syndromes and melanoma have different effects on protein function. 23787126 2013
dbSNP: rs149617956
rs149617956
Entrez Id: 4286
Gene Symbol: MITF
MITF
CUI: C3152204
Disease:
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8
A 0.800 GeneticVariation CLINVAR MITF mutations associated with pigment deficiency syndromes and melanoma have different effects on protein function. 23787126 2013
dbSNP: rs149617956
rs149617956
Entrez Id: 4286
Gene Symbol: MITF
MITF
CUI: C3152204
Disease:
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8
A 0.800 GeneticVariation 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: C3152204
Disease:
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8
A 0.800 GeneticVariation CLINVAR A novel recurrent mutation in MITF predisposes to familial and sporadic melanoma. 22080950 2011
dbSNP: rs149617956
rs149617956
Entrez Id: 4286
Gene Symbol: MITF
MITF
CUI: C3152204
Disease:
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8
A 0.800 GeneticVariation 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: C3152204
Disease:
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8
A 0.800 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: C3152204
Disease:
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8
A 0.800 CausalMutation CLINVAR A novel recurrent mutation in MITF predisposes to familial and sporadic melanoma. 22080950 2011
dbSNP: rs104893745
rs104893745
Entrez Id: 4286
Gene Symbol: MITF
MITF
CUI: C0391816
Disease:
Tietz syndrome
0.800 GeneticVariation UNIPROT Tietz syndrome (hypopigmentation/deafness) caused by mutation of MITF. 10851256 2000
dbSNP: rs104893744
rs104893744
Entrez Id: 4286
Gene Symbol: MITF
MITF
CUI: C1860339
Disease:
WAARDENBURG SYNDROME, TYPE IIA
0.800 GeneticVariation UNIPROT The mutational spectrum in Waardenburg syndrome. 8589691 1995
dbSNP: rs104893747
rs104893747
Entrez Id: 4286
Gene Symbol: MITF
MITF
CUI: C1860339
Disease:
WAARDENBURG SYNDROME, TYPE IIA
0.800 GeneticVariation UNIPROT The mutational spectrum in Waardenburg syndrome. 8589691 1995
dbSNP: rs104893744
rs104893744
Entrez Id: 4286
Gene Symbol: MITF
MITF
CUI: C1860339
Disease:
WAARDENBURG SYNDROME, TYPE IIA
C 0.800 CausalMutation CLINVAR
dbSNP: rs104893745
rs104893745
Entrez Id: 4286
Gene Symbol: MITF
MITF
CUI: C0391816
Disease:
Tietz syndrome
G 0.800 CausalMutation CLINVAR
dbSNP: rs104893747
rs104893747
Entrez Id: 4286
Gene Symbol: MITF
MITF
CUI: C1860339
Disease:
WAARDENBURG SYNDROME, TYPE IIA
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
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