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: rs121918549
rs121918549
5 0.882 0.080 12 53321423 stop gained G/A;T snv 4.0E-06; 1.8E-04 0.700 0
dbSNP: rs121913513
rs121913513
KIT
10 0.776 0.120 4 54727495 missense variant T/C snv 0.010 1.000 1 2013 2013