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: rs121913513
rs121913513
KIT
10 0.776 0.120 4 54727495 missense variant T/C snv 0.760 1.000 17 1995 2016
dbSNP: rs1057519710
rs1057519710
KIT
22 0.695 0.280 4 54733166 missense variant G/C;T snv 0.710 1.000 10 1995 2013
dbSNP: rs121913517
rs121913517
KIT
6 0.851 0.120 4 54727444 missense variant T/A;C;G snv 0.700 1.000 18 1995 2014
dbSNP: rs121913235
rs121913235
KIT
3 0.925 0.080 4 54727437 missense variant T/A;C;G snv 0.700 1.000 14 1995 2012
dbSNP: rs121913512
rs121913512
KIT
9 0.851 0.120 4 54728055 missense variant A/C;G snv 0.700 1.000 9 1995 2011
dbSNP: rs121913506
rs121913506
KIT
24 0.677 0.320 4 54733154 missense variant G/A;C;T snv 0.700 1.000 8 1995 2011
dbSNP: rs1057519708
rs1057519708
KIT
2 1.000 0.040 4 54728096 missense variant T/A;G snv 0.700 1.000 3 2011 2014
dbSNP: rs1057519703
rs1057519703
KIT
1 1.000 0.040 4 54727418 missense variant A/C;T snv 0.700 1.000 2 2014 2014
dbSNP: rs1057519704
rs1057519704
KIT
3 0.882 0.080 4 54727425 missense variant T/A snv 0.700 1.000 2 2011 2012
dbSNP: rs1057519705
rs1057519705
KIT
1 1.000 0.040 4 54727464 missense variant A/G snv 0.700 1.000 2 2014 2014
dbSNP: rs1057519706
rs1057519706
KIT
1 1.000 0.040 4 54727474 missense variant T/G snv 0.700 1.000 2 2014 2014
dbSNP: rs121913514
rs121913514
KIT
12 0.763 0.240 4 54733174 missense variant T/A;G snv 0.700 1.000 2 2011 2012
dbSNP: rs121913521
rs121913521
KIT
12 0.790 0.120 4 54727447 missense variant T/A;C;G snv 0.700 1.000 2 2008 2014
dbSNP: rs121913523
rs121913523
KIT
2 1.000 0.040 4 54728092 missense variant T/A;C snv 0.700 1.000 2 2011 2012
dbSNP: rs1057519702
rs1057519702
KIT
2 1.000 0.040 4 54726020 missense variant T/C snv 0.700 1.000 1 2011 2011
dbSNP: rs1057519713
rs1057519713
KIT
3 0.925 0.120 4 54736498 missense variant G/C snv 0.700 1.000 1 2013 2013
dbSNP: rs121913524
rs121913524
KIT
1 1.000 0.040 4 54733182 missense variant T/C snv 0.700 1.000 1 2014 2014
dbSNP: rs121913685
rs121913685
KIT
4 0.882 0.080 4 54727443 inframe deletion TTGTTG/-;TTG delins 0.700 1.000 1 2014 2014
dbSNP: rs200375589
rs200375589
KIT
2 1.000 0.040 4 54727442 missense variant G/A;C;T snv 6.0E-05 0.700 1.000 1 2012 2012
dbSNP: rs993022333
rs993022333
KIT
5 0.851 0.080 4 54733173 missense variant A/C;T snv 0.700 1.000 1 2011 2011
dbSNP: rs1057520031
rs1057520031
KIT
2 1.000 0.040 4 54727440 missense variant A/C;G snv 0.010 1.000 1 2009 2009
dbSNP: rs1060502550
rs1060502550
KIT
1 1.000 0.040 4 54727488 missense variant A/G snv 0.010 < 0.001 1 2011 2011
dbSNP: rs2237028
rs2237028
KIT
1 1.000 0.040 4 54670209 intron variant T/G snv 0.44 0.010 1.000 1 2013 2013