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: rs2470353
rs2470353
XPC ; LOC107986063
2 0.925 0.120 3 14148768 intron variant G/A;C;T snv 0.41; 1.5E-04 0.010 1.000 1 2018 2018
dbSNP: rs2228000
rs2228000
XPC
53 0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 0.010 1.000 1 2018 2018
dbSNP: rs3731114
rs3731114
XPC
2 0.925 0.120 3 14165122 intron variant C/G snv 1.8E-02 0.010 1.000 1 2018 2018
dbSNP: rs3729587
rs3729587
XPC
2 0.925 0.120 3 14167125 intron variant G/C snv 0.31 0.34 0.010 1.000 1 2018 2018
dbSNP: rs2607775
rs2607775
XPC ; LSM3
8 0.807 0.160 3 14178595 5 prime UTR variant C/G snv 0.42 0.43 0.010 1.000 1 2018 2018
dbSNP: rs3731055
rs3731055
XPC ; LSM3
2 0.925 0.120 3 14178939 intron variant C/T snv 1.9E-02 0.010 1.000 1 2018 2018
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: rs199769221
rs199769221
PRSS1
8 0.790 0.280 7 142751920 missense variant G/A;C;T snv 8.0E-05; 4.0E-06 0.010 1.000 1 2000 2000
dbSNP: rs111033565
rs111033565
PRSS1
11 0.742 0.120 7 142751938 missense variant G/A snv 1.2E-05 0.010 1.000 1 2008 2008
dbSNP: rs267606982
rs267606982
PRSS1
11 0.742 0.120 7 142751938 missense variant GC/AT mnv 0.010 1.000 1 2008 2008
dbSNP: rs111966833
rs111966833
SPINK1
8 0.776 0.320 5 147828053 missense variant G/A;C snv 4.5E-03 0.020 1.000 2 2005 2006
dbSNP: rs17107315
rs17107315
SPINK1
40 0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03 0.040 0.750 4 2003 2007
dbSNP: rs10741657
rs10741657
CYP2R1
34 0.637 0.520 11 14893332 upstream gene variant A/G snv 0.65 0.010 1.000 1 2013 2013
dbSNP: rs34852782
rs34852782
PRKAG2
2 0.925 0.120 7 151869086 intron variant -/A;AG ins 0.010 1.000 1 2019 2019
dbSNP: rs1194611372
rs1194611372
S100A11
9 0.763 0.320 1 152032679 missense variant A/C snv 0.010 1.000 1 2014 2014
dbSNP: rs3218536
rs3218536
XRCC2
37 0.620 0.440 7 152648922 missense variant C/G;T snv 4.0E-06; 6.4E-02 0.010 1.000 1 2008 2008
dbSNP: rs6464375
rs6464375
DPP6
2 0.925 0.120 7 153928758 intron variant C/T snv 6.7E-02 0.700 1.000 1 2010 2010
dbSNP: rs1037189404
rs1037189404
MUC1
8 0.776 0.280 1 155187519 missense variant C/T snv 0.020 1.000 2 2012 2015
dbSNP: rs766333007
rs766333007
MUC1
8 0.776 0.280 1 155192274 missense variant C/T snv 7.0E-06 0.020 1.000 2 2012 2015
dbSNP: rs4269383
rs4269383
LOC101928923 ; LOC105378072
3 0.882 0.120 6 155876368 intergenic variant A/G snv 0.37 0.700 1.000 1 2011 2011
dbSNP: rs78303930
rs78303930
NES
4 0.925 0.120 1 156670593 missense variant C/A;G snv 4.0E-06; 2.4E-03 0.010 < 0.001 1 2019 2019
dbSNP: rs779731636
rs779731636
SOD2
2 0.925 0.120 6 159685026 missense variant C/A snv 8.6E-06 0.010 1.000 1 2011 2011
dbSNP: rs4880
rs4880
SOD2
131 0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 0.020 1.000 2 2008 2011
dbSNP: rs2457571
rs2457571
SLC22A3
2 0.925 0.120 6 160413796 intron variant T/C snv 0.62 0.010 1.000 1 2017 2017
dbSNP: rs1370041903
rs1370041903
PRKN
3 0.925 0.120 6 161350185 stop gained G/A snv 0.010 1.000 1 2019 2019