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: rs121908587
rs121908587
6 0.827 0.120 4 54278380 missense variant C/T snv 0.040 1.000 4 2006 2014
dbSNP: rs121913507
rs121913507
KIT
49 0.614 0.400 4 54733155 missense variant A/T snv 0.020 1.000 2 2007 2012
dbSNP: rs121913682
rs121913682
KIT
52 0.605 0.400 4 54733167 missense variant A/G;T snv 0.020 1.000 2 2007 2012
dbSNP: rs1192565382
rs1192565382
2 0.925 0.080 9 130884389 missense variant C/T snv 4.1E-06 0.010 1.000 1 2014 2014
dbSNP: rs121908585
rs121908585
9 0.827 0.080 4 54285926 missense variant A/T snv 0.010 1.000 1 2009 2009
dbSNP: rs121913459
rs121913459
25 0.672 0.160 9 130872896 missense variant C/T snv 0.010 1.000 1 2014 2014
dbSNP: rs1360131632
rs1360131632
6 0.827 0.080 17 42301316 missense variant C/T snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs3822214
rs3822214
KIT
13 0.732 0.240 4 54727298 missense variant A/C;G;T snv 7.7E-02; 8.0E-06 0.010 < 0.001 1 2014 2014
dbSNP: rs77375493
rs77375493
187 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.010 1.000 1 2007 2007