Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs3021088
ND2 ; COX1
0.925 0.120 MT 5460 missense variant G/A snv 2
rs17879961
CHEK2
0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 53
rs2073389
SMARCB1
0.925 0.120 22 23791306 intron variant C/T snv 0.59 2
rs2074733
SF3A1
0.925 0.120 22 30342598 non coding transcript exon variant T/C snv 0.53 2
rs5757573
PDGFB
0.925 0.120 22 39237617 intron variant C/T snv 0.57 2
rs5768709
TAFA5
0.925 0.120 22 48533757 intron variant A/G snv 0.36 2
rs6001516 0.925 0.120 22 39248198 intron variant C/T snv 6.1E-02 2
rs372883
BACH1
0.827 0.360 21 29345416 3 prime UTR variant T/C snv 0.53 5
rs2027605
BACH1
1.000 0.120 21 29354452 intron variant A/G snv 0.48 3
rs1153280
BACH1
1.000 0.120 21 29305751 intron variant G/A snv 0.52 2
rs1547374
LOC105372815
0.925 0.120 21 42358786 downstream gene variant A/G snv 0.32 2
rs1630747
SLC5A3 ; MRPS6
0.925 0.120 21 34085692 intron variant C/A snv 0.69 2
rs2236479
COL18A1 ; SLC19A1
0.925 0.160 21 45499218 intron variant G/A snv 0.40 2
rs1153287
BACH1
1.000 0.120 21 29313290 intron variant G/A;T snv 1
rs1153294
BACH1
1.000 0.120 21 29328775 intron variant T/C;G snv 1
rs117214
BACH1
1.000 0.120 21 29348513 intron variant C/T snv 0.45 1
rs2832290
BACH1
1.000 0.120 21 29356542 intron variant A/G snv 0.48 1
rs2585428
CYP24A1
0.763 0.200 20 54170358 intron variant C/T snv 0.46 11
rs2762932
CYP24A1
0.882 0.200 20 54151852 downstream gene variant T/C snv 0.17 3
rs757748401
NFATC2
0.925 0.120 20 51542465 missense variant C/A;T snv 5.2E-06 3
rs1810636
LOC105372507
0.925 0.160 20 2674279 regulatory region variant A/C;T snv 2
rs6127119
CYP24A1
0.925 0.120 20 54162543 intron variant C/T snv 0.24 2
rs25487
XRCC1
0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 205
rs1799782
XRCC1
0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 151
rs13181
KLC3 ; ERCC2
0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 134