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: rs121913682
rs121913682
KIT
52 0.605 0.400 4 54733167 missense variant A/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs749914029
rs749914029
KIT
1 1.000 0.080 4 54725918 missense variant G/A snv 4.0E-06 1.4E-05 0.010 1.000 1 2015 2015