Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs6554199
rs6554199
KIT
2 0.925 0.040 4 54656321 upstream gene variant G/T snv 0.54 0.020 0.500 2 2012 2012
dbSNP: rs2237025
rs2237025
KIT
3 0.882 0.080 4 54675713 intron variant T/C snv 0.60 0.010 1.000 1 2012 2012