Gene: KIT ×
Source: ALL
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: rs121913514
rs121913514
KIT
12 0.763 0.240 4 54733174 missense variant T/A;G snv 0.750 1.000 6 2006 2013
dbSNP: rs1057519709
rs1057519709
KIT
2 0.925 0.080 4 54733154 missense variant GA/AT mnv 0.700 1.000 2 2009 2013
dbSNP: rs121913506
rs121913506
KIT
24 0.677 0.320 4 54733154 missense variant G/A;C;T snv 0.700 1.000 2 2009 2013
dbSNP: rs121913507
rs121913507
KIT
49 0.614 0.400 4 54733155 missense variant A/T snv 0.100 1.000 11 1998 2019
dbSNP: rs121913682
rs121913682
KIT
52 0.605 0.400 4 54733167 missense variant A/G;T snv 0.100 1.000 11 1998 2019
dbSNP: rs121913521
rs121913521
KIT
12 0.790 0.120 4 54727447 missense variant T/A;C;G snv 0.010 1.000 1 2015 2015
dbSNP: rs200945282
rs200945282
KIT
3 0.882 0.160 4 54727462 missense variant G/T snv 1.8E-04 8.4E-05 0.010 < 0.001 1 2015 2015
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 1.000 1 2015 2015
dbSNP: rs72550822
rs72550822
KIT
3 0.925 0.080 4 54727265 missense variant G/A snv 5.5E-04 1.2E-03 0.010 1.000 1 2016 2016