Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs876657421
CBS
0.763 0.240 21 43063074 coding sequence variant -/CCCAGCAAAAGCCCCACCTGGATGATCCACCCCAGTGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAG;CCCAGCAAAAGCCCCACCTGGGTGATCCACCCCAGTGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAG delins 11
rs35161626
UBE2E2
1.000 0.040 3 23470822 intron variant A/- del 0.64 1
rs13211318 0.925 0.040 6 32134903 upstream gene variant A/C snv 0.11 5
rs1635168
HERC2
1.000 0.040 15 28290120 intron variant A/C snv 0.77 3
rs1847134
LOC107984363 ; TYR
0.925 0.080 11 89272085 intron variant A/C snv 0.26 3
rs2267641
DDR1
0.925 0.040 6 30897427 synonymous variant A/C snv 0.24 0.18 2
rs10155912
PARP12
1.000 0.040 7 140058921 intron variant A/C snv 0.48 1
rs9261817 1.000 0.040 6 30410824 upstream gene variant A/C snv 0.16 1
rs2456973
LOC105369781 ; IKZF4 ; LOC105369780
0.925 0.040 12 56023144 intron variant A/C;G snv 4
rs3130424 0.925 0.040 6 31250462 intergenic variant A/C;G;T snv 5
rs8083511
TNFRSF11A
1.000 0.040 18 62361422 intron variant A/C;G;T snv 1
rs3094061 0.925 0.160 6 30353412 downstream gene variant A/C;T snv 2
rs59374417 0.925 0.040 3 119569567 intergenic variant A/C;T snv 2
rs3130455
CCHCR1 ; TCF19
1.000 0.040 6 31158201 5 prime UTR variant A/C;T snv 1
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs4880
SOD2
0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 131
rs2476601
AP4B1-AS1 ; PTPN22
0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 121
rs1801394
FASTKD3 ; MTRR
0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 101
rs16944
IL1B
0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 92
rs1136410
PARP1
0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15 70
rs5742905
CBS
0.701 0.360 21 43063074 missense variant A/G snv 22
rs2111485 0.724 0.280 2 162254026 regulatory region variant A/G snv 0.46 17
rs1141718
SOD2
0.724 0.280 6 159688224 missense variant A/G snv 15
rs6059655
RALY
0.790 0.080 20 34077942 intron variant A/G snv 0.95 10
rs117744081
CPVL
0.851 0.080 7 29092663 missense variant A/G snv 2.2E-02 2.3E-02 4