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
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv 306
rs2814778
CADM3-AS1 ; ACKR1
0.763 0.360 1 159204893 5 prime UTR variant T/C snv 0.25 24
rs2072671
CDA
0.752 0.280 1 20589208 missense variant A/C snv 0.28 0.25 16
rs1801265
DPYD
0.763 0.280 1 97883329 missense variant A/G snv 0.28 13
rs2297595
DPYD
0.776 0.320 1 97699535 missense variant T/C snv 8.5E-02 8.1E-02 10
rs67376798
DPYD
0.851 0.120 1 97082391 missense variant T/A snv 2.8E-03 3.3E-03 9
rs2067079
GAS5 ; SNORA103 ; SNORD80 ; SNORD77 ; SNORD81 ; SNORD44 ; SNORD78 ; SNORD47 ; SNORD79
0.807 0.240 1 173866073 non coding transcript exon variant C/T snv 0.22 0.18 7
rs6790
GAS5 ; SNORD47 ; SNORD78 ; SNORD79 ; SNORD81 ; SNORD80 ; SNORD44
0.790 0.320 1 173865494 non coding transcript exon variant G/A snv 8.9E-02 7
rs879255237
VPS45
0.807 0.160 1 150077763 missense variant C/A snv 7
rs1801160
DPYD ; DPYD-AS1
0.807 0.240 1 97305364 missense variant C/T snv 4.7E-02 3.9E-02 6
rs1558284033
DIPK1A ; RPL5
0.851 0.080 1 92833637 frameshift variant AACA/- delins 4
rs60369023
CDA
0.851 0.240 1 20604981 missense variant G/A snv 2.6E-04 1.5E-04 4
rs17376848
DPYD
0.925 0.040 1 97450068 synonymous variant A/G snv 5.1E-02 4.3E-02 3
rs3918290
DPYD
0.882 0.080 1 97450058 splice donor variant C/G;T snv 8.0E-06; 5.6E-03 3
rs12046844 0.925 0.040 1 65772696 regulatory region variant G/A snv 0.17 2
rs12117530
FCGR2B
0.925 0.120 1 161674194 non coding transcript exon variant G/T snv 0.13 2
rs2501846 1.000 0.040 1 212668592 upstream gene variant T/C snv 0.24 2
rs546229463
FCGR3B
0.925 0.040 1 161629912 missense variant T/C snv 2
rs1218899764
DPYD
1.000 0.040 1 97515829 missense variant A/G snv 1
rs1341929358
NR1I3 ; TOMM40L
1.000 0.040 1 161230905 missense variant A/G snv 4.0E-06 7.0E-06 1
rs8175347
UGT1A9 ; UGT1A1 ; UGT1A6 ; UGT1A10 ; UGT1A8 ; UGT1A3 ; UGT1A5 ; UGT1A7 ; UGT1A4
0.708 0.400 2 233760234 intron variant TATA/-;TA;TATATA;TATATATA;TATATATATA;TATATATATATA delins 16
rs4124874
UGT1A5 ; UGT1A4 ; UGT1A7 ; LOC100286922 ; UGT1A8 ; UGT1A10 ; UGT1A3 ; UGT1A6 ; UGT1A9
0.851 0.120 2 233757013 intron variant T/A;G snv 8
rs104893624
LOC112268426 ; CXCR4
0.851 0.200 2 136114928 stop gained G/A snv 4
rs45547640
XDH
0.925 0.040 2 31346794 missense variant T/G snv 2.0E-03 6.5E-04 3