Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: 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: 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: 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: rs104893746
rs104893746
Entrez Id: 4286
Gene Symbol: MITF
MITF
CUI: C4021806
Disease:
Prelingual sensorineural hearing impairment 		T 0.700 CausalMutation CLINVAR
dbSNP: rs104893746
rs104893746
Entrez Id: 4286
Gene Symbol: MITF
MITF
CUI: C0221262
Disease:
Poliosis 		T 0.700 CausalMutation CLINVAR
dbSNP: rs104893746
rs104893746
Entrez Id: 4286
Gene Symbol: MITF
MITF
CUI: C0423318
Disease:
Heterochromia iridis 		T 0.700 CausalMutation CLINVAR
dbSNP: rs104893746
rs104893746
Entrez Id: 4286
Gene Symbol: MITF
MITF
CUI: C1860339
Disease:
WAARDENBURG SYNDROME, TYPE IIA 		T 0.700 CausalMutation CLINVAR
dbSNP: rs104893746
rs104893746
Entrez Id: 4286
Gene Symbol: MITF
MITF
CUI: C3887873
Disease:
Hearing Loss 		T 0.700 CausalMutation CLINVAR
dbSNP: rs104893746
rs104893746
Entrez Id: 4286
Gene Symbol: MITF
MITF
CUI: C3266898
Disease:
Waardenburg Syndrome 		0.010 GeneticVariation BEFREE A rare case of Waardenburg syndrome with unilateral hearing loss caused by nonsense variant c.772C>T (p.Arg259*) in the <i>MITF</i> gene in Yakut patient from the Eastern Siberia (Sakha Republic, Russia). 31213145 2019
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: 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: rs104893747
rs104893747
Entrez Id: 4286
Gene Symbol: MITF
MITF
CUI: C1860339
Disease:
WAARDENBURG SYNDROME, TYPE IIA 		C 0.800 CausalMutation CLINVAR
dbSNP: rs1057517966
rs1057517966
Entrez Id: 4286
Gene Symbol: MITF
MITF
CUI: C1865866
Disease:
Congenital sensorineural hearing loss 		T 0.700 CausalMutation CLINVAR
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: rs1057517966
rs1057517966
Entrez Id: 4286
Gene Symbol: MITF
MITF
CUI: C1384666
Disease:
hearing impairment 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1057518765
rs1057518765
Entrez Id: 4286
Gene Symbol: MITF
MITF
CUI: C3266898
Disease:
Waardenburg Syndrome 		G 0.700 GeneticVariation 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
dbSNP: rs1057519325
rs1057519325
Entrez Id: 4286
Gene Symbol: MITF
MITF
CUI: C1860339
Disease:
WAARDENBURG SYNDROME, TYPE IIA 		C 0.700 CausalMutation CLINVAR
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: rs1057519326
rs1057519326
Entrez Id: 4286
Gene Symbol: MITF
MITF
CUI: C1860339
Disease:
WAARDENBURG SYNDROME, TYPE IIA 		G 0.700 CausalMutation CLINVAR
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