Disease: Iron Overload
Source: ALL
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-02 262
rs1799945
LOC108783645 ; HFE
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 226
rs855791
TMPRSS6
0.701 0.400 22 37066896 missense variant A/G;T snv 0.57; 4.0E-06 38
rs1800730
HFE ; LOC108783645
0.649 0.480 6 26090957 missense variant A/T snv 1.0E-02 1.0E-02 32
rs1275561861
HLA-A
0.672 0.360 6 29944350 missense variant G/A snv 23
rs35201683
HFE
0.732 0.360 6 26094205 stop gained C/A;T snv 1.4E-03 12
rs780246573
HFE ; LOC108783645
0.732 0.360 6 26092860 stop gained C/G;T snv 4.0E-06; 8.0E-06 12
rs80338880
TFR2
0.732 0.360 7 100633100 stop gained G/C snv 7.0E-06 12
rs11568350
SLC40A1
0.790 0.240 2 189565370 missense variant C/A snv 3.8E-03 1.6E-02 9
rs1161457931
TMPRSS6
0.763 0.200 22 37084836 missense variant C/T snv 6.4E-06 9
rs1208663703
TMPRSS6
0.763 0.200 22 37086414 missense variant T/C snv 5.2E-06 7.0E-06 9
rs199474387
HLA-A
0.807 0.240 6 29942870 missense variant G/C;T snv 6
rs11558492
GNPAT
0.827 0.200 1 231272345 missense variant A/G;T snv 0.16 5
rs104893662
SLC40A1
0.851 0.080 2 189571799 missense variant T/A;G snv 4
rs121434375
HJV
0.851 0.080 1 146019672 stop gained T/A snv 4
rs368420430
SLC40A1
0.851 0.080 2 189564177 missense variant T/A;G snv 5.2E-05; 8.0E-06 4
rs80338882
TFR2
0.851 0.080 7 100630973 stop gained G/A snv 4.0E-06 1.4E-05 4
rs80338891
TFR2
0.851 0.080 7 100620889 missense variant C/T snv 4.8E-05 5.6E-05 4
rs41303501
TFR2
0.882 0.080 7 100629279 missense variant C/T snv 1.9E-03 2.1E-03 3
rs781516027
LOC108783645 ; HFE
0.882 0.080 6 26092744 missense variant C/G;T snv 8.0E-06; 3.6E-05 3
rs137853920
TLR4
0.925 0.080 9 117712970 missense variant G/A snv 2.3E-03 2.3E-03 2