Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs555607708
CHEK2
0.667 0.360 22 28695869 frameshift variant G/- del 2.0E-03 1.8E-03 33
rs199840952
ZAP70
0.827 0.240 2 97732893 missense variant C/T snv 1.2E-05 7.0E-06 7
rs869025224
ZAP70
0.827 0.240 2 97734709 missense variant G/C snv 7.0E-06 7
rs1567629968
CARMIL2
0.882 0.160 16 67648973 missense variant C/A snv 3
rs587777641
GPIHBP1
0.925 0.040 8 143215294 missense variant A/C snv 3
rs587777642
GPIHBP1
0.925 0.040 8 143215376 frameshift variant ACCCTGGCAAAGCTCCC/- delins 3
rs121918338
CARD9
0.807 0.160 9 136370362 stop gained G/A snv 1.2E-05 7.0E-06 1
rs149491038
IL10RA
0.882 0.040 11 117995684 missense variant C/T snv 8.0E-06 2.8E-05 1
rs5743708
TLR2
0.525 0.800 4 153705165 missense variant G/A snv 1.7E-02 1.8E-02 1