Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs2032582
ABCB1
0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 97
rs121912438
SOD1
0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 58
rs2228145
IL6R
0.602 0.720 1 154454494 missense variant A/C;T snv 0.38; 1.2E-05 57
rs121913682
KIT
0.605 0.400 4 54733167 missense variant A/G;T snv 52
rs121913507
KIT
0.614 0.400 4 54733155 missense variant A/T snv 49
rs121918459
PTPN11
0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06 47
rs1331463984
TRAF7
0.701 0.240 16 2176350 missense variant G/A snv 33
rs151344517
LOC107985154 ; AFG3L2 ; TUBB6
0.742 0.320 18 12337505 missense variant C/T snv 31
rs864321670
ALDH18A1
0.763 0.320 10 95633012 missense variant C/T snv 24
rs224222
MEFV
0.724 0.440 16 3254463 missense variant C/T snv 0.24 0.21 15
rs34778348
LRRK2 ; LOC105369736
0.742 0.120 12 40363526 missense variant G/A snv 1.7E-03 5.8E-04 15
rs1057523354
COL4A1
0.763 0.480 13 110179387 missense variant C/A snv 13
rs1991517
LOC101928462 ; TSHR
0.752 0.240 14 81144239 missense variant G/C snv 0.90 0.91 13
rs1289543302
ABCB1
0.763 0.440 7 87536472 missense variant C/T snv 12
rs139194636
WARS2
0.882 0.240 1 119033203 missense variant T/C snv 6.4E-05 2.3E-04 6
rs1555366607
SPTB
1.000 0.080 14 64767787 missense variant A/G snv 5
rs36010656
SLCO1C1
0.925 0.080 12 20711408 missense variant C/A;T snv 3.4E-02 4
rs551423795
MUSK
0.925 0.080 9 110687218 missense variant A/G snv 2.4E-05 1.4E-05 4
rs1042718
ADRB2
0.925 0.080 5 148827354 missense variant C/A;T snv 0.23; 4.0E-06 3
rs387907170
ETFDH
0.925 0.080 4 158703436 missense variant T/C snv 4.0E-06 3
rs756877019
MUSK
1.000 9 110800760 missense variant G/C snv 4.0E-06 3
rs3740071
ABCC2
10 99830363 missense variant G/A;C snv 4.0E-06; 4.0E-06 1
rs570874680
PRKAA1
5 40764955 missense variant G/A snv 7.2E-05 7.0E-06 1
rs1082214
MIP
0.925 0.080 12 56452706 non coding transcript exon variant C/T snv 9.3E-02 6
rs2287396
GSTZ1
14 77327849 non coding transcript exon variant C/T snv 0.15 1