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: rs121913685
rs121913685
KIT
4 0.882 0.080 4 54727443 inframe deletion TTGTTG/-;TTG delins 0.700 1.000 4 2004 2009
dbSNP: rs1057519704
rs1057519704
KIT
3 0.882 0.080 4 54727425 missense variant T/A snv 0.700 1.000 3 2011 2013
dbSNP: rs1057519711
rs1057519711
KIT
5 0.882 0.240 4 54733168 missense variant T/A snv 0.700 1.000 3 2007 2012
dbSNP: rs121913513
rs121913513
KIT
10 0.776 0.120 4 54727495 missense variant T/C snv 0.700 1.000 3 2007 2012
dbSNP: rs121913517
rs121913517
KIT
6 0.851 0.120 4 54727444 missense variant T/A;C;G snv 0.700 1.000 3 2003 2012
dbSNP: rs1057519701
rs1057519701
KIT
1 1.000 0.080 4 54725978 missense variant G/A snv 0.700 1.000 2 2011 2012
dbSNP: rs121913235
rs121913235
KIT
3 0.925 0.080 4 54727437 missense variant T/A;C;G snv 0.700 1.000 2 2003 2012
dbSNP: rs1131692239
rs1131692239
KIT
1 1.000 0.080 4 54727496 inframe deletion CTTATGATC/- delins 0.700 1.000 1 2011 2011