TUBB3, tubulin beta 3 class III, 10381

N. diseases: 259; N. variants: 25
Disease: Oculocutaneous albinism type 2 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs143395134
rs143395134
Entrez Id: 4157;10381
Gene Symbol: MC1R;TUBB3
MC1R;TUBB3
CUI: C0268495
Disease:
Oculocutaneous albinism type 2 		G 0.700 GeneticVariation CLINVAR Identification and functional characterization of natural human melanocortin 1 receptor mutant alleles in Pakistani population. 26197705 2015