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: rs1054690270
rs1054690270
GPT ; LOC101928953
5 0.827 0.160 8 144505907 frameshift variant CT/- delins 0.010 1.000 1 2018 2018
dbSNP: rs10932029
rs10932029
ICOS ; LOC101927840
5 0.827 0.200 2 203937045 intron variant T/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs1545224
rs1545224
FABP1
2 0.925 0.120 2 88124297 3 prime UTR variant A/G snv 0.18 0.010 1.000 1 2018 2018
dbSNP: rs2071746
rs2071746
HMOX1
18 0.708 0.320 22 35380679 intron variant A/T snv 0.49 0.010 1.000 1 2018 2018
dbSNP: rs2233682
rs2233682
PIN1
5 0.827 0.240 19 9838476 synonymous variant G/A snv 3.7E-02 6.3E-02 0.010 1.000 1 2018 2018
dbSNP: rs2241883
rs2241883
FABP1
14 0.763 0.360 2 88124547 missense variant T/C snv 0.30 0.29 0.010 < 0.001 1 2018 2018
dbSNP: rs2596538
rs2596538
MICA ; MICA-AS1
5 0.851 0.160 6 31400855 intron variant G/A snv 0.41 0.010 1.000 1 2018 2018
dbSNP: rs3129859
rs3129859 		5 0.827 0.320 6 32433162 intergenic variant G/C;T snv 0.010 1.000 1 2018 2018
dbSNP: rs6897932
rs6897932
IL7R
25 0.683 0.560 5 35874473 missense variant C/T snv 0.23 0.21 0.010 1.000 1 2018 2018
dbSNP: rs7158733
rs7158733
ATXN3
1 1.000 0.080 14 92070879 stop gained G/A;T snv 1.2E-05; 0.27 0.010 1.000 1 2018 2018
dbSNP: rs8021276
rs8021276 		2 0.925 0.080 14 92110162 upstream gene variant A/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs11614913
rs11614913
HOXC6 ; MIR196A2
111 0.512 0.760 12 53991815 mature miRNA variant C/T snv 0.39 0.34 0.020 1.000 2 2017 2017
dbSNP: rs1041740
rs1041740
SOD1
8 0.807 0.320 21 31667849 intron variant C/T snv 0.24 0.010 1.000 1 2017 2017
dbSNP: rs10945859
rs10945859
PRKN
3 0.882 0.120 6 162721570 intron variant T/C snv 0.17 0.010 1.000 1 2017 2017
dbSNP: rs121918664
rs121918664
TERT
4 0.851 0.120 5 1254395 missense variant C/T snv 5.2E-05 9.1E-05 0.010 1.000 1 2017 2017
dbSNP: rs12980275
rs12980275 		23 0.701 0.360 19 39241143 upstream gene variant A/G snv 0.36 0.010 1.000 1 2017 2017
dbSNP: rs1346044973
rs1346044973
TERT
4 0.851 0.160 5 1294158 missense variant G/A snv 1.1E-05 0.010 1.000 1 2017 2017
dbSNP: rs1358379
rs1358379
LINC00472 ; MIR30A
3 0.882 0.160 6 71403739 intron variant T/C snv 6.2E-02 0.010 1.000 1 2017 2017
dbSNP: rs187238
rs187238
IL18
48 0.602 0.680 11 112164265 intron variant C/A;G snv 0.010 1.000 1 2017 2017
dbSNP: rs2217332
rs2217332
HERPUD1
4 0.882 0.160 16 56935236 missense variant G/A snv 0.15 0.14 0.010 1.000 1 2017 2017
dbSNP: rs2292832
rs2292832
GPC1 ; MIR149 ; LOC100130449
46 0.605 0.640 2 240456086 non coding transcript exon variant T/A;C snv 0.59 0.010 1.000 1 2017 2017
dbSNP: rs2736098
rs2736098
TERT
48 0.600 0.600 5 1293971 synonymous variant C/T snv 0.29 0.22 0.010 1.000 1 2017 2017
dbSNP: rs2843403
rs2843403
MMEL1
3 0.882 0.200 1 2597658 intron variant T/C snv 0.54 0.010 1.000 1 2017 2017
dbSNP: rs2910164
rs2910164
MIR146A ; MIR3142HG
193 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 0.010 1.000 1 2017 2017
dbSNP: rs3844942
rs3844942 		3 0.882 0.120 4 189571800 intergenic variant T/C snv 0.010 < 0.001 1 2017 2017