Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1799945
LOC108783645 ; HFE
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 226
rs1800730
HFE ; LOC108783645
0.649 0.480 6 26090957 missense variant A/T snv 1.0E-02 1.0E-02 32
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
rs200249435
TFR2
0.827 0.200 7 100641071 missense variant G/A;C snv 4.2E-06; 8.3E-06 5
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
rs80338879
TFR2
0.882 0.080 7 100633515 missense variant A/T snv 8.3E-06 3
rs80338886
TFR2
0.882 0.080 7 100628228 missense variant A/C snv 3
rs80338881
TFR2
0.925 0.080 7 100632099 stop gained G/A snv 2
rs80338876
TFR2
1.000 0.080 7 100641198 missense variant C/T snv 7.8E-05 1.3E-04 1
rs80338877
TFR2
1.000 0.080 7 100641173 frameshift variant -/G delins 7.5E-06 1
rs80338878
TFR2
1.000 0.080 7 100640846 stop gained G/A snv 1.6E-05 7.0E-06 1
rs80338883
TFR2
1.000 0.080 7 100630922 inframe deletion TTG/- delins 1
rs80338884
TFR2
1.000 0.080 7 100629313 missense variant C/T snv 1.4E-05 1
rs80338887
TFR2
1.000 0.080 7 100627761 frameshift variant G/- delins 1
rs80338888
TFR2
1.000 0.080 7 100627387 inframe insertion CTGGGCCACGGC/-;CTGGGCCACGGCCTGGGCCACGGC delins 2.1E-05 1
rs80338889
TFR2
1.000 0.080 7 100626830 missense variant T/C;G snv 1
rs80338890
TFR2
1.000 0.080 7 100621127 splice acceptor variant C/T snv 7.7E-06 7.0E-06 1