Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs186364861
rs186364861
SUCLA2 ; NUDT15
4 0.882 0.120 13 48037798 missense variant G/A snv 9.1E-04 2.4E-04 0.030 1.000 3 2017 2019
dbSNP: rs1218899764
rs1218899764
DPYD
1 1.000 0.040 1 97515829 missense variant A/G snv 0.010 1.000 1 2017 2017
dbSNP: rs149104283
rs149104283
SLCO1B3-SLCO1B7
4 0.882 0.040 12 20930928 intron variant C/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs1610696
rs1610696
HLA-G
2 0.925 0.040 6 29831026 3 prime UTR variant C/G snv 0.29 0.010 1.000 1 2017 2017
dbSNP: rs16957920
rs16957920 		1 1.000 0.040 13 87710848 intergenic variant G/C snv 6.4E-02 0.010 1.000 1 2017 2017
dbSNP: rs2067079
rs2067079
SNORD81 ; SNORD79 ; SNORD80 ; SNORD47 ; SNORD44 ; GAS5 ; SNORD77 ; SNORD78 ; SNORA103
7 0.807 0.240 1 173866073 non coding transcript exon variant C/T snv 0.22 0.18 0.010 1.000 1 2017 2017
dbSNP: rs2228000
rs2228000
XPC
53 0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 0.010 1.000 1 2017 2017
dbSNP: rs2228075
rs2228075
IMPDH1
1 1.000 0.040 7 128394575 synonymous variant C/A;G;T snv 0.27 0.010 1.000 1 2017 2017
dbSNP: rs2278294
rs2278294
IMPDH1
3 0.882 0.080 7 128400645 non coding transcript exon variant C/T snv 0.38 0.010 1.000 1 2017 2017
dbSNP: rs371194629
rs371194629
HLA-G
8 0.790 0.320 6 29830804 3 prime UTR variant -/ATTTGT;ATTTGTTCACGCCT;ATTTGTTCATGCCT ins 0.010 1.000 1 2017 2017
dbSNP: rs3758581
rs3758581
CYP2C19
3 0.925 0.040 10 94842866 missense variant A/G snv 0.95 0.010 1.000 1 2017 2017
dbSNP: rs3918290
rs3918290
DPYD
3 0.882 0.080 1 97450058 splice donor variant C/G;T snv 8.0E-06; 5.6E-03 0.010 1.000 1 2017 2017
dbSNP: rs4124874
rs4124874
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A3 ; LOC100286922
8 0.851 0.120 2 233757013 intron variant T/A;G snv 0.010 1.000 1 2017 2017
dbSNP: rs4149117
rs4149117
SLCO1B3 ; SLCO1B3-SLCO1B7
15 0.763 0.360 12 20858546 missense variant T/C;G snv 0.81 0.010 1.000 1 2017 2017
dbSNP: rs4150558
rs4150558
GTF2H1
3 0.882 0.040 11 18332808 non coding transcript exon variant T/A snv 8.7E-03 0.010 1.000 1 2017 2017
dbSNP: rs4240803
rs4240803
SLC7A5 ; LOC107987237
4 0.851 0.240 16 87855597 intron variant G/A;C;T snv 0.010 1.000 1 2017 2017
dbSNP: rs6790
rs6790
SNORD81 ; SNORD79 ; SNORD80 ; SNORD47 ; SNORD44 ; GAS5 ; SNORD78
7 0.790 0.320 1 173865494 non coding transcript exon variant G/A snv 8.9E-02 0.010 1.000 1 2017 2017
dbSNP: rs72552763
rs72552763
SLC22A1
3 0.925 0.040 6 160139849 inframe deletion GAT/- delins 0.15 0.010 1.000 1 2017 2017
dbSNP: rs7311358
rs7311358
SLCO1B3 ; SLCO1B3-SLCO1B7
6 0.827 0.160 12 20862826 missense variant G/A snv 0.81 0.72 0.010 1.000 1 2017 2017
dbSNP: rs7438135
rs7438135
UGT2B7
1 1.000 0.040 4 69095621 intron variant G/A snv 0.58 0.010 1.000 1 2017 2017
dbSNP: rs7608692
rs7608692
CASP8
2 0.925 0.040 2 201246236 intron variant G/A snv 0.20 0.010 1.000 1 2017 2017
dbSNP: rs79206939
rs79206939
FTO
3 0.925 0.160 16 53826140 missense variant G/A snv 2.1E-03 6.4E-04 0.710 1.000 1 2017 2017
dbSNP: rs1050274678
rs1050274678
SLC19A1
3 0.925 0.040 21 45530803 missense variant C/T snv 1.1E-05 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs1260186456
rs1260186456
ABCC1
2 0.925 0.040 16 16102659 missense variant G/T snv 9.4E-06 0.010 1.000 1 2016 2016
dbSNP: rs1422359334
rs1422359334
GSTK1 ; LOC105375545
2 0.925 0.040 7 143264131 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2016 2016