Gene: KIT ×
Source: BEFREE ×
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: rs121913517
rs121913517
KIT
2 0.851 0.120 4 54727444 missense variant T/A;C;G snv 0.850 1.000 5 1998 2017
dbSNP: rs121913512
rs121913512
KIT
4 0.851 0.120 4 54728055 missense variant A/C;G snv 0.760 1.000 6 2001 2014
dbSNP: rs121913516
rs121913516
KIT
6 1.000 0.080 4 54729353 missense variant C/T snv 4.0E-06 0.750 1.000 5 2004 2019
dbSNP: rs121913521
rs121913521
KIT
11 0.790 0.120 4 54727447 missense variant T/A;C;G snv 0.740 0.875 4 1999 2016
dbSNP: rs121913235
rs121913235
KIT
1 0.925 0.080 4 54727437 missense variant T/A;C;G snv 0.730 1.000 3 1999 2018
dbSNP: rs121913513
rs121913513
KIT
9 0.776 0.120 4 54727495 missense variant T/C snv 0.730 1.000 3 2006 2017
dbSNP: rs121913523
rs121913523
KIT
1 1.000 0.040 4 54728092 missense variant T/A;C snv 0.730 0.900 3 2005 2019
dbSNP: rs121913506
rs121913506
KIT
17 0.677 0.320 4 54733154 missense variant G/A;C;T snv 0.710 1.000 1 2005 2014
dbSNP: rs121913520
rs121913520
KIT
3 1.000 0.080 4 54727443 missense variant G/A snv 0.710 1.000 1 2007 2013
dbSNP: rs1057519710
rs1057519710
KIT
22 0.695 0.280 4 54733166 missense variant G/C;T snv 0.030 1.000 3 2004 2013
dbSNP: rs121913507
rs121913507
KIT
49 0.614 0.400 4 54733155 missense variant A/T snv 0.020 1.000 2 2007 2014
dbSNP: rs121913682
rs121913682
KIT
51 0.605 0.400 4 54733167 missense variant A/G;T snv 0.020 1.000 2 2007 2014
dbSNP: rs1057519711
rs1057519711
KIT
4 0.882 0.240 4 54733168 missense variant T/A snv 0.010 1.000 1 2017 2017
dbSNP: rs17084733
rs17084733
KIT
2 1.000 0.080 4 54738774 3 prime UTR variant G/A snv 0.10 0.010 1.000 1 2019 2019
dbSNP: rs780708976
rs780708976
KIT
1 4 54727456 missense variant T/A;C snv 1.6E-05 0.010 1.000 1 2005 2005