Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs6983267
PCAT1 ; CCAT2 ; CASC8 ; POU5F1B
0.578 0.440 8 127401060 non coding transcript exon variant G/T snv 0.37 62
rs7837328
CASC8 ; PCAT1 ; POU5F1B
0.882 0.120 8 127410882 intron variant A/G snv 0.52 8
rs2855798
KCNJ1 ; LOC107984409
11 128863066 intron variant G/T snv 0.21 1
rs386352319
KCNJ5
0.827 0.080 11 128911724 missense variant G/A;C snv 8
rs386352318
KCNJ5
0.925 0.080 11 128911776 missense variant T/G snv 4
rs146462069
IGSF1
X 131278706 missense variant T/C;G snv 3.8E-05; 9.5E-03 2
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 480
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 490
rs386352352
PRKACA
0.851 0.080 19 14097604 missense variant A/C snv 6
rs2227999
XPC
3 14158408 missense variant C/T snv 4.2E-02 4.0E-02 1
rs142163070
GML ; CYP11B1
8 142877100 missense variant T/C snv 2.0E-04 4.5E-04 1
rs4539
CYP11B2 ; GML
0.925 0.080 8 142915123 missense variant T/C snv 0.42 0.38 4
rs1205
CRP
0.602 0.680 1 159712443 3 prime UTR variant C/T snv 0.30 46
rs1130864
CRP
0.672 0.520 1 159713301 3 prime UTR variant G/A snv 0.26 27
rs774679649
CRP
1 159713878 missense variant T/C snv 4.0E-06 7.0E-06 1
rs2720574
PDGFRL
8 17578682 intron variant C/A;G;T snv 1
rs1201299
TBL1XR1
3 177053096 intron variant C/T snv 1.7E-02 1
rs746497256
NFE2L2
0.925 0.080 2 177231925 synonymous variant A/G snv 8.0E-06 7.0E-06 3
rs121913279
PIK3CA
0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 101
rs6586714
NAT1
1.000 8 18216433 intron variant A/G snv 0.84 2
rs4648310
PTGS2
1 186671393 downstream gene variant T/C;G snv 1
rs5277
PACERR ; PTGS2
0.790 0.160 1 186679065 synonymous variant C/G;T snv 0.12; 8.0E-06 9
rs150766139
NTHL1 ; TSC2
0.742 0.320 16 2046238 stop gained G/A snv 1.4E-03 1.4E-03 13
rs1051740
EPHX1
0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 56
rs2234922
EPHX1
0.630 0.440 1 225838705 missense variant A/G;T snv 0.19; 2.8E-05 42