Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1131691014 0.439 0.800 17 7676154 frameshift variant -/C ins 1
rs1135401891 0.790 0.280 13 32332796 frameshift variant -/CT ins 1
rs56807175 1.000 0.040 2 145678654 intron variant -/C ins 0.16 1
rs1555454508 0.790 0.240 15 44615487 stop gained GTA/ATC mnv 18
rs200327371 1.000 0.040 2 148671610 intron variant T/- del 3.1E-02 1
rs201447509 1.000 0.040 8 125236380 intron variant TC/- del 1
rs70988775 1.000 0.040 5 140776321 intergenic variant T/- del 0.53 1
rs869312830 1.000 0.040 16 30965014 frameshift variant C/- del 1
rs312262717 0.790 0.240 15 44659104 frameshift variant A/-;AA delins 18
rs138449918 0.882 0.040 2 39936810 intron variant AT/-;ATAT delins 3
rs201048567 0.882 0.040 7 125615031 intergenic variant CA/- delins 1.0E-05 3
rs10650434 1.000 0.040 7 1985461 intron variant -/TC delins 0.57 1
rs11345859
KIT
1.000 0.040 4 54669212 intron variant CCC/-;C;CC;CCCC;CCCCC;CCCCCC delins 0.44 1
rs11409090 1.000 0.040 3 17846143 intron variant -/T delins 0.53 1
rs11439302 1.000 0.040 21 14869414 intron variant A/-;AA;AAA delins 1
rs139425113 1.000 0.040 8 4323090 intron variant A/-;AA;AAA delins 1
rs146678232 1.000 0.040 7 24737471 intron variant A/-;AA delins 0.15 1
rs201061212 1.000 0.040 15 80091637 intron variant AAAA/-;AA;AAA delins 4.3E-05 1
rs34269918 1.000 0.040 1 8364925 intron variant A/- delins 0.69 1
rs34685708 1.000 0.040 2 161972220 intron variant A/- delins 0.38 1
rs58033671 1.000 0.040 8 142238758 intron variant GCCCGCCCCTGCAC/-;GCCCGCCCCTGCACGCCCGCCCCTGCAC delins 1
rs5825114 1.000 0.040 18 55081986 intergenic variant A/-;AA delins 1
rs5891007 1.000 0.040 8 38163492 3 prime UTR variant -/T delins 0.20 1
rs869312832 1.000 0.040 16 30966051 frameshift variant -/C delins 1
rs1800562 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 34