Disease: Piebaldism ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387907217
rs387907217
Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0080024
Disease:
Piebaldism 		0.030 GeneticVariation BEFREE These results are consistent with the previous hypothesis that progressive piebaldism might result from digenic inheritance, of the KIT(V620A) mutation that causes piebaldism and a second, unknown locus that causes progressive depigmentation. 16619012 2006
dbSNP: rs387907217
rs387907217
Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0080024
Disease:
Piebaldism 		0.030 GeneticVariation BEFREE Mice transgenic for Kit(V620A): recapitulation of piebaldism but not progressive depigmentation seen in humans with this mutation. 16456533 2006
dbSNP: rs387907217
rs387907217
Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0080024
Disease:
Piebaldism 		0.030 GeneticVariation BEFREE Genetic analysis of genomic DNA from both the mother and daughter with progressive piebaldism revealed a novel Val620Ala (1859T>C) mutation in the KIT gene, which was not detected in family members without progressive piebaldism or in 52 normal control individuals. 11174389 2001