Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121913506
KIT
0.677 0.320 4 54733154 missense variant G/A;C;T snv 6
rs121913512
KIT
0.851 0.120 4 54728055 missense variant A/C;G snv 6
rs121913517
KIT
0.851 0.120 4 54727444 missense variant T/A;C;G snv 5
rs121913685
KIT
0.882 0.080 4 54727443 inframe deletion TTGTTG/-;TTG delins 4
rs121913235
KIT
0.925 0.080 4 54727437 missense variant T/A;C;G snv 3
rs121913513
KIT
0.776 0.120 4 54727495 missense variant T/C snv 3
rs121913514
KIT
0.763 0.240 4 54733174 missense variant T/A;G snv 3
rs1057519708
KIT
1.000 0.040 4 54728096 missense variant T/A;G snv 2
rs1057519713
KIT
0.925 0.120 4 54736498 missense variant G/C snv 2
rs1057520032
KIT
1.000 4 54727438 stop gained G/A;C snv 4.0E-06 2
rs121913520
KIT
1.000 0.080 4 54727443 missense variant G/A snv 2
rs121913521
KIT
0.790 0.120 4 54727447 missense variant T/A;C;G snv 2
rs121913523
KIT
1.000 0.040 4 54728092 missense variant T/A;C snv 2
rs121913682
KIT
0.605 0.400 4 54733167 missense variant A/G;T snv 2
rs200375589
KIT
1.000 0.040 4 54727442 missense variant G/A;C;T snv 6.0E-05 2
rs993022333
KIT
0.851 0.080 4 54733173 missense variant A/C;T snv 2
rs1057519710
KIT
0.695 0.280 4 54733166 missense variant G/C;T snv 1
rs1057519711
KIT
0.882 0.240 4 54733168 missense variant T/A snv 1
rs1057519761
KIT
4 54733175 missense variant T/G snv 1
rs1057520031
KIT
1.000 0.040 4 54727440 missense variant A/C;G snv 1
rs1057520033
KIT
1.000 0.040 4 54727439 missense variant G/C snv 1
rs1057520034
KIT
4 54727447 missense variant TT/AA mnv 1
rs1057520035
KIT
4 54727438 missense variant GG/TT mnv 1
rs1060502521
KIT
4 54733162 frameshift variant G/- del 1
rs1060502543
KIT
4 54727501 inframe deletion GAT/- delins 1