Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs28940580
MEFV
0.742 0.560 16 3243447 missense variant C/A;G;T snv 1.0E-04; 8.0E-06 17
rs33388
NR3C1
0.776 0.360 5 143317730 intron variant A/T snv 0.53 12
rs119473033
SMARCAL1
0.827 0.320 2 216478216 stop gained G/T snv 8.0E-05 1.3E-04 11
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
rs3124591
NOTCH1
0.827 0.120 9 136495945 3 prime UTR variant C/T snv 0.62 6
rs3124599
NOTCH1
0.851 0.080 9 136509318 intron variant G/A snv 0.13 5
rs74315343
NPHS2
0.851 0.080 1 179561328 stop gained G/A snv 1.6E-05 7.0E-06 5
rs121912491
LAMB2
0.882 0.240 3 49131128 missense variant C/T snv 7.0E-06 4
rs33389
NR3C1
0.882 0.280 5 143320934 intron variant C/G;T snv 4
rs139994842
NOTCH1
0.925 0.040 9 136508308 missense variant G/A;C snv 1.5E-03 3
rs1437439236
SGPL1
0.925 0.080 10 70871945 missense variant C/T snv 8.0E-06 3
rs267606954
PLCE1
1.000 0.080 10 94032007 stop gained C/T snv 2.4E-05 3
rs1063348
HLA-DQB1-AS1 ; HLA-DQB1
1.000 0.080 6 32660146 3 prime UTR variant A/G snv 0.43 2
rs1569504068
COL4A5
1.000 X 108655388 frameshift variant G/- del 2
rs2222722
LINC00472 ; MIR30A
1.000 0.080 6 71404009 intron variant G/A snv 0.29 2
rs267606919
NPHS1
1.000 0.080 19 35831056 stop gained G/A snv 9.9E-05 2
rs2858829 1.000 0.040 6 116447754 intron variant A/G snv 0.33 2
rs397514479
ENTPD5 ; COQ6
1.000 14 73961339 missense variant C/A snv 2
rs437168
NPHS1
1.000 0.080 19 35843517 synonymous variant G/A;C snv 7.9E-02; 1.2E-05 2