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: rs10953316
rs10953316
MUC17
1 1.000 0.040 7 101038481 synonymous variant A/C;G;T snv 8.0E-06; 0.64 0.010 1.000 1 2015 2015
dbSNP: rs500760
rs500760
PGR
3 0.882 0.120 11 101039260 synonymous variant T/C snv 0.24 0.29 0.010 1.000 1 2005 2005
dbSNP: rs10895068
rs10895068
PGR ; PGR-AS1
14 0.752 0.240 11 101129483 5 prime UTR variant C/T snv 3.6E-02 0.010 1.000 1 2011 2011
dbSNP: rs7561460
rs7561460
IL1R2
2 1.000 0.040 2 102000742 intron variant T/C snv 0.43 0.010 1.000 1 2012 2012
dbSNP: rs2072472
rs2072472
IL1R2
13 0.732 0.200 2 102026557 intron variant A/G snv 0.24 0.010 1.000 1 2012 2012
dbSNP: rs1536309
rs1536309
MIR146B
7 0.851 0.160 10 102435445 upstream gene variant A/G snv 0.32 0.010 1.000 1 2019 2019
dbSNP: rs2475335
rs2475335
PTPRD
3 0.882 0.080 9 10260263 intron variant C/A;T snv 0.010 1.000 1 2018 2018
dbSNP: rs1799750
rs1799750
MMP1 ; WTAPP1
48 0.592 0.760 11 102799765 intron variant C/- delins 0.50 0.010 1.000 1 2016 2016
dbSNP: rs743572
rs743572
CYP17A1
24 0.672 0.360 10 102837395 5 prime UTR variant A/G;T snv 0.40; 8.1E-06 0.020 0.500 2 2013 2018
dbSNP: rs1799969
rs1799969
ICAM1
38 0.637 0.560 19 10284116 missense variant G/A snv 0.11 9.3E-02 0.040 0.500 4 2003 2016
dbSNP: rs5498
rs5498
ICAM1 ; ICAM4
99 0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 0.050 0.600 5 2003 2016
dbSNP: rs116250606
rs116250606
CALHM3
1 1.000 0.040 10 103473496 missense variant C/T snv 6.5E-06; 4.1E-03 2.3E-02 0.700 1.000 1 2017 2017
dbSNP: rs12720356
rs12720356
TYK2
12 0.752 0.360 19 10359299 missense variant A/C;G snv 6.1E-02; 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs12720270
rs12720270
TYK2
4 0.851 0.240 19 10365084 intron variant G/A snv 0.21 0.16 0.010 1.000 1 2013 2013
dbSNP: rs280523
rs280523
TYK2
2 0.925 0.120 19 10366530 synonymous variant G/A;C snv 7.2E-02; 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs861539
rs861539
KLC1 ; XRCC3
104 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 0.010 1.000 1 2010 2010
dbSNP: rs7907606
rs7907606 		8 0.790 0.120 10 103920874 upstream gene variant T/G snv 0.26 0.010 1.000 1 2018 2018
dbSNP: rs113850637
rs113850637 		1 1.000 0.040 3 104131556 intergenic variant C/T snv 0.14 0.700 1.000 1 2017 2017
dbSNP: rs498679
rs498679
ATG5
1 1.000 0.040 6 106122200 intron variant T/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs1801516
rs1801516
ATM
39 0.627 0.400 11 108304735 missense variant G/A snv 0.11 0.11 0.010 1.000 1 2018 2018
dbSNP: rs10794288
rs10794288
MUC2
1 1.000 0.040 11 1086825 non coding transcript exon variant C/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs10902088
rs10902088
MUC2
2 1.000 0.040 11 1090036 non coding transcript exon variant T/C snv 0.73 0.010 1.000 1 2012 2012
dbSNP: rs1805097
rs1805097
IRS2
22 0.689 0.360 13 109782884 missense variant C/G;T snv 0.35 0.010 1.000 1 2010 2010
dbSNP: rs11245954
rs11245954
MUC2
1 1.000 0.040 11 1107170 non coding transcript exon variant A/G snv 6.7E-02 8.9E-02 0.010 1.000 1 2012 2012
dbSNP: rs6542095
rs6542095 		1 1.000 0.040 2 112771606 downstream gene variant C/A;T snv 0.020 1.000 2 2015 2015