Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs3832016
CELSR2
1 109275536 3 prime UTR variant -/T ins 0.74 4
rs200174418
CERT1
5 75449704 intron variant GG/- del 2
rs150641967
HAPLN4
19 19259532 intron variant AGAC/-;AGACAGAC delins 4
rs11456863 3 12230419 regulatory region variant T/-;TT;TTT;TTTTTTTTTTT delins 3
rs66650371
HBS1L
0.925 0.080 6 135097495 intron variant CTA/-;CTACTA delins 0.19 3
rs68055275
ST3GAL4
11 126369248 intron variant -/T;TT delins 3
rs145955280
EVI5
1 92671973 intron variant A/-;AA;AAA delins 2
rs201445483
SMC6
2 17708820 intron variant -/GT delins 7.3E-05 2
rs753833181
N4BP2L1
13 32402503 3 prime UTR variant TTGAT/- delins 2
rs77987196
GPAM
10 112173249 intron variant TT/-;T;TTT delins 0.71 2
rs112959129
ABHD11-AS1
7 73733661 upstream gene variant -/CA delins 1
rs11406672
KPNA1
3 122507441 intron variant AA/-;A;AAA;AAAA;AAAAA;AAAAAAA;AAAAAAAAAAAA;AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA delins 1
rs138108930 8 11938077 intron variant AATA/-;AATAAATA delins 1
rs139562989 17 8276406 upstream gene variant CAA/- delins 0.48 1
rs139604259
MACO1
1 25442718 intron variant -/A delins 0.58 1
rs199987224 5 75269375 intergenic variant GTCTCCCTCTCCGTCTCCCTCTCC/-;GTCTCCCTCTCC delins 0.35 1
rs34774090
SPC24
19 11143211 intron variant A/- delins 0.77 1
rs66883945 6 138996690 regulatory region variant -/C;CC delins 1
rs1800562
LOC108783645 ; HFE
0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 262
rs77375493
INSL6 ; JAK2
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 187
rs3184504
SH2B3 ; ATXN2
0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 92
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
rs780094
GCKR
0.658 0.400 2 27518370 intron variant T/C snv 0.67 62
rs351855
FGFR4
0.597 0.560 5 177093242 missense variant G/A snv 0.33 0.26 58