Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 490
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 480
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
rs1554317002
LOC112267983 ; CDK13
0.724 0.440 7 39950821 frameshift variant C/- delins 45
rs587784347
PLA2G6
0.742 0.280 22 38113561 missense variant G/A snv 8.0E-06 38
rs855791
TMPRSS6
0.701 0.400 22 37066896 missense variant A/G;T snv 0.57; 4.0E-06 38
rs3811647
TF
0.807 0.120 3 133765185 intron variant G/A snv 0.31 15
rs7385804
TFR2
0.851 0.120 7 100638347 intron variant C/A snv 0.65 14
rs4820268
TMPRSS6
0.851 0.160 22 37073551 missense variant G/A;C snv 0.53; 4.0E-06 14
rs1555738475
STK11
0.776 0.400 19 1220707 frameshift variant G/- delins 12
rs781214034
EDNRB ; EDNRB-AS1
0.790 0.320 13 77903538 missense variant C/T snv 1.3E-04 2.8E-05 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
rs1566304640
EDNRB-AS1 ; EDNRB
0.827 0.280 13 77900593 missense variant G/A snv 8
rs1564494285
RET
0.882 0.200 10 43111219 frameshift variant TG/- delins 6
rs733655
TMPRSS6
0.827 0.240 22 37099011 intron variant T/C snv 0.28 6
rs1555307370
SOX5
0.882 0.160 12 23740986 stop gained G/A snv 4
rs235756 1.000 0.080 20 6786464 intergenic variant A/C;G snv 2
rs1799899
TF
1.000 0.080 3 133756968 missense variant G/A snv 5.2E-02 4.5E-02 2