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
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
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: 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: 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: 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: C1860339
Disease:
WAARDENBURG SYNDROME, TYPE IIA
C 0.700 CausalMutation CLINVAR
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
dbSNP: rs1057519327
rs1057519327
Entrez Id: 4286
Gene Symbol: MITF
MITF
CUI: C1860339
Disease:
WAARDENBURG SYNDROME, TYPE IIA
A 0.700 CausalMutation CLINVAR
dbSNP: rs1236436555
rs1236436555
Entrez Id: 4286
Gene Symbol: MITF
MITF
CUI: C2700265
Disease:
Waardenburg Syndrome Type 2
C 0.700 GeneticVariation CLINVAR
dbSNP: rs147682682
rs147682682
Entrez Id: 4286
Gene Symbol: MITF
MITF
CUI: C0423318
Disease:
Heterochromia iridis
T 0.700 CausalMutation CLINVAR
dbSNP: rs147682682
rs147682682
Entrez Id: 4286
Gene Symbol: MITF
MITF
CUI: C1384666
Disease:
hearing impairment
T 0.700 CausalMutation CLINVAR
dbSNP: rs147682682
rs147682682
Entrez Id: 4286
Gene Symbol: MITF
MITF
CUI: C1860339
Disease:
WAARDENBURG SYNDROME, TYPE IIA
T 0.700 CausalMutation CLINVAR