Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs546983534
KLC1 ; XRCC3 ; LOC112268131
14 103708630 missense variant G/A snv 2.8E-05 1
rs370244148
WNT2B
0.882 0.160 1 112514896 stop gained C/A;T snv 1.6E-05; 1.2E-05 6
rs1360182594
MTHFR
1 11790755 synonymous variant G/A snv 4.0E-06 1
rs1555206402
HMBS
0.790 0.320 11 119093274 stop lost GCCCATTAACTGGTTTGTGGGGCACAGATGCCTGGGTTGCTGCTGTCCAGTGCCT/- delins 26
rs1801019
UMPS
0.882 0.080 3 124737895 missense variant G/A;C snv 4.0E-06; 0.19 4
rs2032592
DDX3Y
0.851 0.160 Y 12919473 3 prime UTR variant A/G snv 1.6E-04 5
rs201253747
HTR4 ; LOC107986462
1.000 0.040 5 148483142 3 prime UTR variant A/G snv 2.1E-03 2
rs72552763
SLC22A1
0.925 0.040 6 160139849 inframe deletion GAT/- delins 0.15 3
rs211105
TPH1
1.000 11 18033757 intron variant T/G snv 0.19 4
rs1555909961
TMPRSS15
1.000 0.080 21 18398320 frameshift variant AGTGC/- del 2
rs2151222
IKBKE
1 206480926 intron variant A/G snv 0.28 1
rs4149117
SLCO1B3-SLCO1B7 ; SLCO1B3
0.763 0.360 12 20858546 missense variant T/C;G snv 0.81 15
rs7311358
SLCO1B3-SLCO1B7 ; SLCO1B3
0.827 0.160 12 20862826 missense variant G/A snv 0.81 0.72 6
rs2306283
SLCO1B1
0.742 0.320 12 21176804 missense variant A/G;T snv 0.47 16
rs4149056
SLCO1B1
0.633 0.480 12 21178615 missense variant T/C snv 0.13 0.12 45
rs1458320839
ABCB6
2 219218640 missense variant C/A;T snv 1
rs1042597
UGT1A8
2 233618225 missense variant C/G;T snv 0.27; 4.0E-06 3
rs17868320
UGT1A10 ; UGT1A8
2 233669782 intron variant C/T snv 4.0E-02 1
rs4124874
UGT1A5 ; UGT1A4 ; UGT1A7 ; LOC100286922 ; UGT1A8 ; UGT1A10 ; UGT1A3 ; UGT1A6 ; UGT1A9
0.851 0.120 2 233757013 intron variant T/A;G snv 8
rs121918081
TTR
0.925 0.200 18 31595124 missense variant A/G snv 3
rs1131692245
NPHS1
0.925 0.160 19 35844109 missense variant C/T snv 7
rs25487
XRCC1
0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 205
rs1050274678
SLC19A1
0.925 0.040 21 45530803 missense variant C/T snv 1.1E-05 7.0E-06 3
rs8111874
NTN5 ; SEC1P
19 48665685 intron variant G/A snv 0.32 1
rs12462111
NTN5 ; SEC1P
19 48668049 intron variant C/T snv 0.33 2