Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs35699606
HBB
0.882 0.080 11 5226994 frameshift variant -/C delins 2.5E-04 6.3E-05 3
rs63750532
HBB
0.925 0.080 11 5226780 frameshift variant A/- delins 3
rs4671393
BCL11A
0.790 0.400 2 60493816 intron variant A/C;G snv 11
rs6545816
BCL11A
1.000 0.080 2 60487726 intron variant A/C;G snv 0.50 2
rs9714060
MUC4
1.000 0.080 3 195760605 intron variant A/C;G snv 1
rs33941849
HBB
0.851 0.080 11 5227020 start lost A/C;G;T snv 4
rs4234795
SORCS2
1.000 0.080 4 7209075 intron variant A/C;G;T snv 1
rs3024731
PROZ
0.925 0.080 13 113164394 intron variant A/C;T snv 3
rs33951465
HBB
0.882 0.080 11 5226947 splice region variant A/C;T snv 4.0E-06 3
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs699
AGT
0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 134
rs4880
SOD2
0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 131
rs16944
IL1B
0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 92
rs2569190
CD14 ; TMCO6
0.620 0.560 5 140633331 intron variant A/G snv 0.57 39
rs1984112
CD36
0.807 0.280 7 80613604 intron variant A/G snv 0.33 8
rs10189857
BCL11A
1.000 0.080 2 60486100 intron variant A/G snv 0.42 6
rs35256489
HBB
0.827 0.080 11 5225710 missense variant A/G snv 4.0E-06 2.1E-05 6
rs118203945
MTOR ; UBIAD1
0.882 0.280 1 11273836 missense variant A/G snv 3
rs2963155
NR3C1
0.882 0.160 5 143376439 intron variant A/G snv 0.24 3
rs1318772
MCC
1.000 0.080 5 113387870 intron variant A/G snv 0.18 2
rs6738440
BCL11A
1.000 0.080 2 60495106 intron variant A/G snv 0.26 2
rs7584113
BCL11A
1.000 0.080 2 60494176 intron variant A/G snv 0.64 2
rs768272475
SOAT1
0.925 0.240 1 179345018 synonymous variant A/G snv 4.0E-06 2
rs35724775
HBB
0.763 0.080 11 5226924 splice region variant A/G;T snv 1.2E-04 10
rs33978907
HBB
0.851 0.080 11 5225488 3 prime UTR variant A/G;T snv 4