KITLG, KIT ligand, 4254

N. diseases: 249; N. variants: 23
Disease: HYPERPIGMENTATION, FAMILIAL PROGRESSIVE ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121918653
rs121918653 		1.000 0.040 12 88545774 missense variant T/C snv
CUI: C1840392
Disease: HYPERPIGMENTATION, FAMILIAL PROGRESSIVE
HYPERPIGMENTATION, FAMILIAL PROGRESSIVE 		Skin and Connective Tissue Diseases 0.800 1.000 1 2009 2009
dbSNP: rs730882157
rs730882157 		1.000 0.040 12 88545781 missense variant T/G snv
CUI: C1840392
Disease: HYPERPIGMENTATION, FAMILIAL PROGRESSIVE
HYPERPIGMENTATION, FAMILIAL PROGRESSIVE 		Skin and Connective Tissue Diseases 0.710 1.000 1 2011 2011
dbSNP: rs730882156
rs730882156 		1.000 0.040 12 88545783 missense variant A/G snv
CUI: C1840392
Disease: HYPERPIGMENTATION, FAMILIAL PROGRESSIVE
HYPERPIGMENTATION, FAMILIAL PROGRESSIVE 		Skin and Connective Tissue Diseases 0.700 0