Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs13194491 1.000 0.040 6 27069301 intergenic variant C/T snv 4.8E-02 5
rs987710
IGLV10-54
1.000 0.040 22 22158022 intron variant G/A snv 0.61 4
rs10132552
MEG3
1.000 0.040 14 100834675 non coding transcript exon variant T/C snv 0.25 3
rs4150558
GTF2H1
0.882 0.040 11 18332808 non coding transcript exon variant T/A snv 8.7E-03 3
rs377001714
PGK1
1.000 0.040 X 78118074 missense variant C/T snv 1.1E-05 9.5E-06 2
rs12762549 1.000 0.040 10 99861014 intergenic variant C/G;T snv 1
rs1375515
CACNA2D3
1.000 0.040 3 54442613 intron variant C/T snv 0.58 1
rs1554544862
ANK1
1.000 0.040 8 41694003 frameshift variant TGGAACTTCCGGCGCCGGGG/- delins 1
rs1868505
CACNA2D3
1.000 0.040 3 54387228 intron variant T/C snv 0.86 1
rs33950542
HBB
1.000 0.040 11 5226665 missense variant A/C;G snv 1
rs363717
ABCA1
1.000 0.040 9 104782419 3 prime UTR variant C/T snv 0.85 1
rs368002262
GPI
1.000 0.040 19 34377778 missense variant G/A snv 1.2E-05 2.8E-05 1
rs461645
LOC105372256 ; ADGRE1
1.000 0.040 19 6919742 missense variant A/G;T snv 0.77 1
rs542998
RTN3
1.000 0.040 11 63719914 missense variant T/A;C snv 0.81 1
rs33950507
HBB
0.807 0.080 11 5226943 stop gained C/A;G;T snv 2.5E-04 8
rs121918367
SLC11A2
0.827 0.080 12 50999214 missense variant C/A;T snv 6.0E-05 5
rs41469945
HBA2
0.925 0.080 16 173581 missense variant T/C;G snv 3
rs1531289
KDR
0.925 0.080 4 55089065 intron variant T/A;C snv 2
rs6780995
IL17RD
0.925 0.080 3 57104391 missense variant G/A snv 0.62 0.64 2
rs768843272
TFR2
0.925 0.080 7 100629298 missense variant T/C snv 8.4E-05 7.7E-05 2
rs3811647
TF
0.807 0.120 3 133765185 intron variant G/A snv 0.31 15
rs7385804
TFR2
0.851 0.120 7 100638347 intron variant C/A snv 0.65 14
rs104894815
GATA1
0.776 0.120 X 48792337 missense variant G/A snv 9
rs267607201
KLF1
0.807 0.120 19 12885001 missense variant C/T snv 7
rs104894816
GATA1
0.827 0.120 X 48792377 missense variant A/G snv 6