Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1422359334
GSTK1 ; LOC105375545
0.925 0.040 7 143264131 missense variant C/A;T snv 4.0E-06 2
rs879255237
VPS45
0.807 0.160 1 150077763 missense variant C/A snv 7
rs1321402467
ESR1
0.925 0.080 6 151808327 missense variant T/C snv 2
rs2814778
CADM3-AS1 ; ACKR1
0.763 0.360 1 159204893 5 prime UTR variant T/C snv 0.25 24
rs6498588
LOC107984869
0.925 0.040 16 15938949 intergenic variant A/T snv 0.65 2
rs17501331
ABCC1
0.925 0.040 16 15995584 intron variant A/G snv 7.7E-02 2
rs72552763
SLC22A1
0.925 0.040 6 160139849 inframe deletion GAT/- delins 0.15 3
rs2074087
ABCC1
0.882 0.080 16 16090375 intron variant C/G snv 0.81 0.83 3
rs1260186456
ABCC1
0.925 0.040 16 16102659 missense variant G/T snv 9.4E-06 2
rs1341929358
NR1I3 ; TOMM40L
1.000 0.040 1 161230905 missense variant A/G snv 4.0E-06 7.0E-06 1
rs546229463
FCGR3B
0.925 0.040 1 161629912 missense variant T/C snv 2
rs12117530
FCGR2B
0.925 0.120 1 161674194 non coding transcript exon variant G/T snv 0.13 2
rs756881285
ADA2
0.882 0.160 22 17209534 frameshift variant C/-;CC delins 4
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
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
rs763794263
ABCC8
1.000 0.040 11 17432232 missense variant G/A snv 6.3E-05 3.5E-05 1
rs1142345
TPMT
0.776 0.280 6 18130687 missense variant T/C;G snv 3.7E-02 9
rs1800460
TPMT
0.807 0.320 6 18138997 missense variant C/T snv 2.8E-02 2.6E-02 7
rs9990999
DCTD
0.925 0.040 4 182902820 intron variant G/A snv 0.37 2
rs775729712
DCTD
0.925 0.040 4 182915501 missense variant G/C snv 3
rs4150558
GTF2H1
0.882 0.040 11 18332808 non coding transcript exon variant T/A snv 8.7E-03 3
rs11719165 0.925 0.040 3 194865359 intergenic variant T/C snv 0.53 2
rs117506642
LOC105376755
1.000 0.040 2 195143585 intergenic variant C/A;T snv 2
rs7608692
CASP8
0.925 0.040 2 201246236 intron variant G/A snv 0.20 2
rs2307486
APEX1 ; OSGEP
0.790 0.240 14 20456045 missense variant A/G snv 7.4E-03 2.1E-03 7