Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918653
rs121918653
KITLG
0.800 GeneticVariation UNIPROT Gain-of-function mutation of KIT ligand on melanin synthesis causes familial progressive hyperpigmentation. 19375057

2009
dbSNP: rs121918653
rs121918653
KITLG
C 0.800 CausalMutation CLINVAR

dbSNP: rs730882157
rs730882157
KITLG
0.710 GeneticVariation BEFREE A reported FPH substitution was observed in two FPHH families, and two, to our knowledge, previously unreported substitutions, p.Val33Ala and p.Thr34Pro, cosegregated with FPHH in two separate families. 21368769

2011
dbSNP: rs730882157
rs730882157
KITLG
G 0.710 CausalMutation CLINVAR

dbSNP: rs730882156
rs730882156
KITLG
G 0.700 CausalMutation CLINVAR