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: rs1057519907
rs1057519907
KIT
2 0.925 0.120 4 54728057 missense variant A/C snv 0.700 1.000 1 2016 2016
dbSNP: rs121913512
rs121913512
KIT
9 0.851 0.120 4 54728055 missense variant A/C;G snv 0.700 1.000 1 2016 2016