Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1127354
ITPA
0.667 0.400 20 3213196 missense variant C/A;G snv 7.5E-02 26
rs1554785242
ADAMTS13
0.882 0.160 9 133426240 missense variant G/T snv 8
rs1554791280
ADAMTS13
0.882 0.160 9 133442718 missense variant T/C snv 8
rs1565538350
TPI1
0.851 0.200 12 6870074 missense variant G/A snv 7
rs267607201
KLF1
0.807 0.120 19 12885001 missense variant C/T snv 7
rs137853583
GPI
0.827 0.080 19 34394044 missense variant G/A;T snv 1.2E-05; 4.0E-06 5
rs200111236
G6PD
0.882 0.200 X 154534463 missense variant G/A;C snv 2.8E-04; 5.5E-06 5
rs865862446
FANCD2
0.882 0.200 3 10049416 missense variant G/A snv 5
rs1564875331
HBB
0.882 0.120 11 5226724 frameshift variant CATAA/TGATGCC delins 4
rs2230294
GPI
0.851 0.080 19 34393927 missense variant G/A;T snv 2.0E-04 4
rs572409834
ALDH9A1 ; LOC440700
0.925 0.120 1 165698515 missense variant C/T snv 4.2E-06 4
rs769013954
ALDH9A1
0.925 0.120 1 165682137 missense variant A/G snv 2.0E-05 4
rs33966487
HBB
0.925 0.040 11 5226588 missense variant C/G;T snv 2
rs863225469
RHAG
0.925 0.120 6 49619338 missense variant A/C snv 2
rs1555367318
SPTB
1.000 0.040 14 64770879 splice donor variant ACCTGGGCCTC/- delins 1
rs33917785
HBB
1.000 0.040 11 5226617 missense variant A/C;G snv 1
rs33924146
HBB
1.000 0.040 11 5226765 missense variant A/C;G snv 1
rs33926796
HBB
1.000 0.040 11 5226767 missense variant A/C;G;T snv 1
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs1057520247
BRCA2
0.882 0.200 13 32326591 synonymous variant C/T snv 7.0E-06 5
rs1314386070
DECR1
0.827 0.240 8 90042766 missense variant T/C snv 1.4E-05 9
rs121912751
SLC4A1
0.882 0.200 17 44251241 missense variant G/T snv 7.2E-05 2.1E-05 4
rs121912748
SLC4A1
0.790 0.200 17 44253327 missense variant C/T snv 4.0E-05 2.1E-05 9
rs367956522
ATP7B
0.851 0.240 13 51949798 splice acceptor variant T/C snv 2.4E-05 7.7E-05 7
rs78478128
G6PD
0.851 0.160 X 154536168 missense variant G/C snv 1.7E-04 1.1E-04 7