Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs5498
ICAM4 ; ICAM1
0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 99
rs12979860
IFNL4
0.547 0.520 19 39248147 intron variant C/T snv 0.39 84
rs8099917 0.581 0.600 19 39252525 upstream gene variant T/G snv 0.16 60
rs1553621496
UNC80
0.677 0.440 2 209976305 splice donor variant T/G snv 53
rs1560755661
TBCK
0.701 0.480 4 106171094 splice donor variant CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/- delins 44
rs4148323
UGT1A10 ; UGT1A9 ; UGT1A7 ; UGT1A3 ; UGT1A5 ; UGT1A6 ; UGT1A8 ; UGT1A1 ; UGT1A4
0.701 0.440 2 233760498 missense variant G/A snv 2.2E-02 9.2E-03 22
rs1554785242
ADAMTS13
0.882 0.160 9 133426240 missense variant G/T snv 8
rs1554791280
ADAMTS13
0.882 0.160 9 133442718 missense variant T/C snv 8
rs683369
SLC22A1
0.807 0.360 6 160130172 missense variant G/A;C;T snv 4.0E-06; 0.83; 4.0E-06 7
rs1554174425
RHAG
0.925 0.160 6 49618113 missense variant A/C snv 6
rs777686211
CPLANE1
0.851 0.200 5 37226776 frameshift variant A/-;AA delins 1.8E-04 5
rs1555366607
SPTB
1.000 0.080 14 64767787 missense variant A/G snv 5
rs749523755
CPLANE1
0.882 0.080 5 37157810 stop gained A/T snv 2.4E-05 7.0E-06 4
rs775263897
CPLANE1
0.882 0.080 5 37148217 frameshift variant T/-;TT delins 4.0E-06; 8.0E-06 4
rs13720
CTSZ ; NELFCD
20 58995513 3 prime UTR variant G/A snv 0.83 2
rs1131690799
SERAC1
1.000 6 158117726 splice donor variant C/G snv 1.2E-05 7.0E-06 2
rs745436352
DGUOK
2 73946857 stop gained C/G;T snv 4.0E-06; 4.0E-06 1