Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs2746419
AHI1
6 135332717 intron variant A/C snv 0.46 1
rs2032582
ABCB1
0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 97
rs699
AGT
0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 134
rs1128503
ABCB1
0.564 0.760 7 87550285 synonymous variant A/G snv 0.54 0.63 64
rs1063348
HLA-DQB1-AS1 ; HLA-DQB1
1.000 0.080 6 32660146 3 prime UTR variant A/G snv 0.43 2
rs2858829 1.000 0.040 6 116447754 intron variant A/G snv 0.33 2
rs59882675
BTC
4 74763902 intron variant A/G snv 0.23 1
rs1045642
ABCB1
0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 214
rs33388
NR3C1
0.776 0.360 5 143317730 intron variant A/T snv 0.53 12
rs397514479
ENTPD5 ; COQ6
1.000 14 73961339 missense variant C/A snv 2
rs2858317 6 32694503 intergenic variant C/A snv 0.41 1
rs28940580
MEFV
0.742 0.560 16 3243447 missense variant C/A;G;T snv 1.0E-04; 8.0E-06 17
rs9273542
HLA-DQB1 ; HLA-DQB1-AS1
6 32661035 intron variant C/A;T snv 1
rs33389
NR3C1
0.882 0.280 5 143320934 intron variant C/G;T snv 4
rs61747728
NPHS2
0.701 0.240 1 179557079 missense variant C/T snv 3.0E-02 2.8E-02 20
rs28940578
MEFV
0.716 0.400 16 3243405 missense variant C/T snv 1.4E-04 6.3E-05 16
rs199840952
ZAP70
0.827 0.240 2 97732893 missense variant C/T snv 1.2E-05 7.0E-06 7
rs3124591
NOTCH1
0.827 0.120 9 136495945 3 prime UTR variant C/T snv 0.62 6
rs121912491
LAMB2
0.882 0.240 3 49131128 missense variant C/T snv 7.0E-06 4
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
rs487575
LOC105374264
3 187880609 intergenic variant C/T snv 0.23 1
rs1569504068
COL4A5
1.000 X 108655388 frameshift variant G/- del 2
rs552953108
F2
0.724 0.200 11 46729529 missense variant G/A snv 1.6E-05 4.2E-05 16
rs3124599
NOTCH1
0.851 0.080 9 136509318 intron variant G/A snv 0.13 5