Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1057519710
rs1057519710
KIT
0.695 0.280 4 54733166 missense variant G/C;T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.710 1.000 9 1995 2013