Disease: Waardenburg Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs763119975
rs763119975
Entrez Id: 4286
Gene Symbol: MITF
MITF
CUI: C3266898
Disease:
Waardenburg Syndrome 		0.010 GeneticVariation BEFREE In contrast, their two children both carried a homozygous p.R223H mutation and had classic WS features including profound hearing loss, heterochromia irides and marked pigmentary abnormalities in hair and skin. 30549420 2019