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: rs104894230
rs104894230
42 0.615 0.464 11 534288 missense variant C/A,G,T snp 0.010 1.000 1 2010 2010
dbSNP: rs121913513
rs121913513
KIT
9 0.769 0.143 4 54727495 missense variant T/C snp 0.010 1.000 1 2009 2009
dbSNP: rs121913529
rs121913529
70 0.559 0.393 12 25245350 missense variant C/A,G,T snp 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs727503094
rs727503094
6 0.821 0.143 11 534287 stop gained GC/TA,AG,AT,TT multinucleotide-polymorphism 0.010 1.000 1 2010 2010
dbSNP: rs763308199
rs763308199
KIT
1 1.000 0.071 4 54729433 missense variant C/A,T snp 1.6E-05 9.6E-05 0.010 1.000 1 2010 2010