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
rs3184504
SH2B3 ; ATXN2
0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 92
rs2736100
TERT
0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 83
rs1260326
GCKR
0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68 81
rs429358
APOE
0.590 0.600 19 44908684 missense variant T/C snv 0.14 0.16 66
rs334
HBB
0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03 35
rs1047891
CPS1
0.827 0.200 2 210675783 missense variant C/A snv 0.30 0.33 34
rs662799
APOA5
0.689 0.480 11 116792991 upstream gene variant G/A snv 0.90 33
rs4246215
FADS2 ; FEN1
0.677 0.320 11 61796827 3 prime UTR variant G/C;T snv 29
rs34536443
TYK2
0.667 0.400 19 10352442 missense variant G/C snv 2.7E-02 2.8E-02 25
rs11556924
ZC3HC1
0.752 0.240 7 130023656 missense variant C/A;T snv 4.0E-06; 0.28 21
rs148636776
ATXN2 ; SH2B3
0.790 0.280 12 111447491 missense variant G/A snv 1.5E-04 2.4E-04 18
rs174548
FADS2 ; FADS1
0.851 0.160 11 61803876 5 prime UTR variant C/G;T snv 17
rs34557412
TNFRSF13B
0.763 0.240 17 16948873 missense variant A/G snv 3.5E-03 3.9E-03 15
rs13331259
FAM234A
16 249924 intron variant A/G snv 3.0E-02 14
rs7775698
HBS1L
1.000 0.080 6 135097497 intron variant C/T snv 6.9E-02 14
rs17580
SERPINA1
0.776 0.160 14 94380925 missense variant T/A snv 2.3E-02 2.9E-02 14
rs2853961 6 31264212 downstream gene variant G/A snv 0.38 13
rs112505971
ANKRD26
10 27068541 intron variant A/C;G snv 13
rs3123543
ATF3
1 212617344 intron variant T/A;C snv 13
rs3840870
COL1A1
17 50184820 3 prime UTR variant -/CTTG delins 13
rs76792961
FAM234A
16 243594 intron variant C/T snv 7.3E-03 13
rs7776054
HBS1L
6 135097778 intron variant A/G snv 0.24 13
rs9399137
HBS1L
0.851 0.320 6 135097880 intron variant T/C snv 0.20 13
rs9917425
OTOR
20 16755400 intron variant G/T snv 0.16 13