Disease: Hemochromatosis
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
rs236918
PCSK7
0.776 0.160 11 117220893 non coding transcript exon variant G/A;C snv 10
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
rs111033563
LOC108783645 ; HFE
0.776 0.240 6 26092916 missense variant A/C snv 4.0E-06 8
rs199474387
HLA-A
0.807 0.240 6 29942870 missense variant G/C;T snv 6
rs1167115018
HFE ; LOC108783645
0.827 0.160 6 26092760 missense variant A/G snv 8.0E-06 7.0E-06 5