Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1042522
TP53
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 242
rs1045642
ABCB1
0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 214
rs10518133
PARM1
4 75025495 intron variant G/A snv 9.7E-02 1
rs1063348
HLA-DQB1-AS1 ; HLA-DQB1
1.000 0.080 6 32660146 3 prime UTR variant A/G snv 0.43 2
rs1128503
ABCB1
0.564 0.760 7 87550285 synonymous variant A/G snv 0.54 0.63 64
rs119473033
SMARCAL1
0.827 0.320 2 216478216 stop gained G/T snv 8.0E-05 1.3E-04 11
rs121912491
LAMB2
0.882 0.240 3 49131128 missense variant C/T snv 7.0E-06 4
rs1267969615
ACE
0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 100
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
rs1569504068
COL4A5
1.000 X 108655388 frameshift variant G/- del 2
rs16946160
GPC5
13 91551559 intron variant G/A snv 0.13 1
rs199840952
ZAP70
0.827 0.240 2 97732893 missense variant C/T snv 1.2E-05 7.0E-06 7
rs201899638
PTPRD
9 9932324 intron variant T/C;G snv 1
rs2032582
ABCB1
0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 97
rs2222722
LINC00472 ; MIR30A
1.000 0.080 6 71404009 intron variant G/A snv 0.29 2
rs2637678 6 116466215 upstream gene variant T/C snv 0.36 1
rs267606919
NPHS1
1.000 0.080 19 35831056 stop gained G/A snv 9.9E-05 2
rs267606954
PLCE1
1.000 0.080 10 94032007 stop gained C/T snv 2.4E-05 3
rs2746419
AHI1
6 135332717 intron variant A/C snv 0.46 1
rs28366266
HLA-DRB1
6 32591976 upstream gene variant T/C snv 0.12 1
rs2858317 6 32694503 intergenic variant C/A snv 0.41 1
rs2858829 1.000 0.040 6 116447754 intron variant A/G snv 0.33 2
rs28940578
MEFV
0.716 0.400 16 3243405 missense variant C/T snv 1.4E-04 6.3E-05 16
rs28940580
MEFV
0.742 0.560 16 3243447 missense variant C/A;G;T snv 1.0E-04; 8.0E-06 17