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: rs147680653
rs147680653 		17 0.708 0.280 6 29785031 intergenic variant A/G snv 0.700 1.000 2 2016 2017
dbSNP: rs10146472
rs10146472
NPAS3
1 1.000 0.080 14 33545815 intron variant A/G snv 0.28 0.700 1.000 1 2017 2017
dbSNP: rs1060501327
rs1060501327
MUTYH
4 0.851 0.080 1 45332251 missense variant A/G snv 0.010 1.000 1 2012 2012
dbSNP: rs1108581
rs1108581
DBH
3 1.000 0.080 9 133640119 intron variant A/G snv 0.27 0.700 1.000 1 2017 2017
dbSNP: rs115392158
rs115392158
HLA-B
17 0.708 0.280 6 31347004 intron variant A/G snv 0.700 1.000 1 2016 2016
dbSNP: rs116043036
rs116043036 		1 1.000 0.080 6 28237041 downstream gene variant A/G snv 5.2E-03 0.700 1.000 1 2018 2018
dbSNP: rs116822326
rs116822326
HCP5
2 0.925 0.080 6 31466334 non coding transcript exon variant A/G snv 0.700 1.000 1 2017 2017
dbSNP: rs12686364
rs12686364 		1 1.000 0.080 9 21670088 intergenic variant A/G snv 8.7E-03 0.700 1.000 1 2018 2018
dbSNP: rs139789464
rs139789464
BAG6 ; APOM
2 0.925 0.080 6 31657087 intron variant A/G snv 0.700 1.000 1 2017 2017
dbSNP: rs141752671
rs141752671 		17 0.708 0.280 11 103745837 intron variant A/G snv 5.4E-03 0.700 1.000 1 2016 2016
dbSNP: rs142618987
rs142618987 		2 0.925 0.080 6 30540143 downstream gene variant A/G snv 0.700 1.000 1 2017 2017
dbSNP: rs148883465
rs148883465 		17 0.708 0.280 11 103813371 intron variant A/G snv 7.2E-03 0.700 1.000 1 2016 2016
dbSNP: rs192388487
rs192388487
LOC101926960
1 1.000 0.080 5 42170776 intergenic variant A/G snv 5.7E-03 0.700 1.000 1 2018 2018
dbSNP: rs6488507
rs6488507
LRP6 ; BCL2L14
2 0.925 0.080 12 12203966 intron variant A/G snv 0.45 0.010 1.000 1 2014 2014
dbSNP: rs75316749
rs75316749
LOC107986051
18 0.701 0.280 3 169043635 intergenic variant A/G snv 4.2E-02 0.700 1.000 1 2016 2016
dbSNP: rs764449808
rs764449808
STK11
1 1.000 0.080 19 1218494 missense variant A/G snv 1.2E-05 3.5E-05 0.700 1.000 1 2007 2007
dbSNP: rs876658657
rs876658657
MLH1
25 0.677 0.280 3 37020356 missense variant A/G snv 4.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs1023835002
rs1023835002
B2M ; PATL2
10 0.763 0.280 15 44711547 start lost A/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519789
rs1057519789
DDR2
1 1.000 0.080 1 162775707 missense variant A/G;T snv 4.0E-06 0.700 1.000 1 2011 2011
dbSNP: rs121913279
rs121913279
PIK3CA
101 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs11571833
rs11571833
BRCA2
43 0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03 0.720 1.000 3 2015 2019
dbSNP: rs1057519926
rs1057519926
PIK3CA
10 0.776 0.200 3 179210293 missense variant A/T snv 0.700 1.000 1 2016 2016
dbSNP: rs13201294
rs13201294 		1 1.000 0.080 6 27588362 intergenic variant A/T snv 0.11 0.700 1.000 1 2017 2017
dbSNP: rs147833373
rs147833373
DCUN1D4
1 1.000 0.080 4 51845211 non coding transcript exon variant A/T snv 4.5E-03 0.700 1.000 1 2018 2018
dbSNP: rs9602270
rs9602270 		1 1.000 0.080 13 83706928 intergenic variant A/T snv 7.6E-02 0.700 1.000 1 2017 2017