Source: CURATED

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1800562
LOC108783645 ; HFE
0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 34
rs1799945
LOC108783645 ; HFE
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 31
rs334
HBB
0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03 26
rs855791
TMPRSS6
0.701 0.400 22 37066896 missense variant A/G;T snv 0.57; 4.0E-06 21
rs77375493
INSL6 ; JAK2
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 13
rs3811647
TF
0.807 0.120 3 133765185 intron variant G/A snv 0.31 12
rs76763715
GBA
0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03 11
rs1114167422
SNORA56 ; DKC1
0.776 0.320 X 154773148 missense variant A/G snv 11
rs7385804
TFR2
0.851 0.120 7 100638347 intron variant C/A snv 0.65 10
rs76992529
TTR
0.653 0.560 18 31598655 missense variant G/A snv 1.1E-03 4.9E-03 10
rs1559810905
IFIH1
0.827 0.240 2 162273810 missense variant T/A snv 9
rs1050828
G6PD
0.790 0.200 X 154536002 missense variant C/T snv 9.1E-03 3.6E-02 8
rs3024505 0.790 0.320 1 206766559 upstream gene variant G/A snv 0.11 7
rs662799
APOA5
0.689 0.480 11 116792991 upstream gene variant G/A snv 0.90 7
rs33950507
HBB
0.807 0.080 11 5226943 stop gained C/A;G;T snv 2.5E-04 7
rs1801133
MTHFR
0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 6
rs4986790
TLR4
0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 6
rs1057516674
G6PC
0.882 0.160 17 42901026 frameshift variant GT/- del 5
rs878853314
GBA
0.882 0.240 1 155239655 missense variant C/G snv 5
rs878853315
GBA
0.925 0.160 1 155236292 missense variant G/C snv 5
rs121913615
MPL
0.683 0.240 1 43349338 missense variant G/C;T snv 8.0E-06 5
rs13194491 1.000 0.040 6 27069301 intergenic variant C/T snv 4.8E-02 4
rs121908117
ATRIP ; TREX1 ; ATRIP-TREX1
0.708 0.440 3 48466707 missense variant G/A snv 4
rs1057520529
FOXP3
0.851 0.320 X 49251440 missense variant C/T snv 4
rs104894816
GATA1
0.827 0.120 X 48792377 missense variant A/G snv 4