Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs993022333
KIT
0.851 0.080 4 54733173 missense variant A/C;T snv 2
rs886040456 0.882 0.200 13 32337325 frameshift variant AACAAATGGGCAG/- delins 3
rs878853647 0.882 0.120 9 21971099 missense variant C/G;T snv 3
rs876658511 1.000 0.040 9 21971147 frameshift variant TGGGCTCCGCGCCGTGGAGCAGCAGCAGCTCCGCCACT/- delins 1
rs876658220 1.000 0.040 9 21971147 frameshift variant T/- delins 1
rs869312757 0.925 0.120 3 52405163 stop gained G/A;C snv 3
rs869025608 0.763 0.400 15 66435117 missense variant G/C;T snv 9
rs861539 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 1
rs80358683 0.851 0.120 13 32338880 stop gained C/T snv 5
rs794729219 0.882 0.240 7 140753352 missense variant A/G snv 2
rs786204195 0.851 0.200 9 21974686 missense variant G/A;T snv 1
rs78378222 0.662 0.360 17 7668434 3 prime UTR variant T/G snv 8.3E-03 1
rs776347334 1.000 0.040 2 211430974 missense variant C/T snv 1.2E-05 1
rs77375493 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 10
rs77064436 1.000 0.040 3 41224577 missense variant T/C;G snv 1
rs763576329 1.000 0.040 4 54285959 missense variant G/A;C snv 8.0E-06 1
rs727505017 0.882 0.200 3 12604201 missense variant A/G;T snv 3
rs727504317 0.807 0.320 15 66435145 missense variant G/A snv 6
rs727503094 0.633 0.440 11 534287 missense variant GC/AG;AT;TA;TT mnv 1
rs587782228 0.882 0.120 1 45330557 missense variant C/A;T snv 4.2E-06; 4.2E-06 3
rs587779826
ATM
0.851 0.360 11 108267344 splice donor variant T/C snv 4.0E-06 5
rs559848002 0.925 0.120 9 21971147 missense variant T/C;G snv 4.7E-06 2
rs55671017 1.000 0.040 2 211705339 missense variant G/A;T snv 8.0E-06; 6.4E-04 1
rs555607708 0.667 0.360 22 28695869 frameshift variant G/- del 2.0E-03 1.8E-03 33
rs535202189 1.000 0.040 2 211673256 missense variant C/T snv 6.8E-05 1