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: rs401681
rs401681
CLPTM1L
42 0.620 0.640 5 1321972 intron variant C/T snv 0.48 0.740 1.000 7 2010 2018
dbSNP: rs505922
rs505922
ABO
34 0.689 0.520 9 133273813 intron variant C/T snv 0.740 1.000 6 2009 2018
dbSNP: rs3790844
rs3790844
NR5A2
4 0.882 0.200 1 200038304 intron variant A/C;G snv 0.730 1.000 5 2010 2018
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.050 0.600 5 2005 2020
dbSNP: rs9543325
rs9543325 		3 0.882 0.200 13 73342491 regulatory region variant C/G;T snv 0.700 1.000 4 2010 2018
dbSNP: rs11655237
rs11655237
LINC00511 ; LINC00673
17 0.724 0.280 17 72404025 non coding transcript exon variant C/T snv 0.16 0.720 1.000 3 2015 2019
dbSNP: rs121913530
rs121913530
KRAS
63 0.583 0.640 12 25245351 missense variant C/A;G;T snv 0.030 1.000 3 2014 2018
dbSNP: rs1561927
rs1561927
LINC00824
6 0.807 0.280 8 128555832 intron variant C/T snv 0.65 0.710 1.000 3 2014 2019
dbSNP: rs9581943
rs9581943
PDX1
1 1.000 0.120 13 27919860 upstream gene variant G/A snv 0.31 0.700 1.000 3 2014 2018
dbSNP: rs9939609
rs9939609
FTO
98 0.559 0.720 16 53786615 intron variant T/A snv 0.41 0.030 0.667 3 2012 2017
dbSNP: rs10094872
rs10094872
CASC11
4 0.882 0.200 8 127707639 intron variant A/T snv 0.33 0.700 1.000 2 2016 2018
dbSNP: rs1037189404
rs1037189404
MUC1
8 0.776 0.280 1 155187519 missense variant C/T snv 0.020 1.000 2 2012 2015
dbSNP: rs1057519921
rs1057519921
NFE2L2
10 0.763 0.240 2 177234231 missense variant T/C snv 0.020 1.000 2 2011 2018
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.020 0.500 2 2011 2011
dbSNP: rs1223231582
rs1223231582
PRSS1
24 0.677 0.280 7 142750639 missense variant A/G snv 7.0E-06 0.020 1.000 2 2003 2004
dbSNP: rs1486134
rs1486134 		1 1.000 0.120 2 67412637 downstream gene variant G/C;T snv 0.700 1.000 2 2015 2018
dbSNP: rs1517037
rs1517037 		3 0.882 0.120 18 59211042 intergenic variant C/T snv 0.23 0.710 0.500 2 2015 2018
dbSNP: rs16986825
rs16986825
ZNRF3
1 1.000 0.120 22 28904318 intron variant C/T snv 0.13 0.700 1.000 2 2014 2018
dbSNP: rs17688601
rs17688601
SUGCT ; LOC112267984
1 1.000 0.120 7 40827064 intron variant C/A snv 0.20 0.700 1.000 2 2015 2018
dbSNP: rs2075685
rs2075685
XRCC4 ; TMEM167A
14 0.724 0.320 5 83076846 intron variant G/A;T snv 0.020 1.000 2 2015 2015
dbSNP: rs2816938
rs2816938 		2 1.000 0.120 1 200016240 upstream gene variant T/A snv 0.37 0.700 1.000 2 2016 2018
dbSNP: rs2900174
rs2900174
PRB1 ; PRB2
1 1.000 0.120 12 11394598 intron variant A/G snv 0.12 0.800 1.000 2 2012 2017
dbSNP: rs35226131
rs35226131
TERT
2 1.000 0.120 5 1295258 upstream gene variant C/T snv 2.6E-02 0.700 1.000 2 2016 2018
dbSNP: rs3790843
rs3790843
NR5A2
7 0.827 0.160 1 200041696 intron variant C/T snv 0.29 0.020 1.000 2 2015 2018
dbSNP: rs6971499
rs6971499
LINC-PINT
1 1.000 0.120 7 130995762 intron variant T/C snv 0.15 0.700 1.000 2 2014 2018