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: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 < 0.001 1 2011 2011
dbSNP: rs12621278
rs12621278
ITGA6
7 0.790 0.280 2 172446825 intron variant A/G snv 4.9E-02 0.010 1.000 1 2011 2011
dbSNP: rs16901979
rs16901979
PCAT1 ; CASC19
17 0.724 0.480 8 127112671 intron variant C/A snv 0.16 0.010 1.000 1 2011 2011
dbSNP: rs17879961
rs17879961
CHEK2
53 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 0.010 1.000 1 2011 2011
dbSNP: rs1799782
rs1799782
XRCC1
151 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 0.010 1.000 1 2011 2011
dbSNP: rs1805794
rs1805794
NBN
41 0.605 0.600 8 89978251 missense variant C/G snv 0.35 0.31 0.010 1.000 1 2011 2011
dbSNP: rs324011
rs324011
STAT6
12 0.742 0.360 12 57108399 intron variant C/T snv 0.32 0.010 1.000 1 2011 2011
dbSNP: rs6465657
rs6465657
LMTK2
7 0.807 0.280 7 98187015 intron variant C/T snv 0.41 0.37 0.010 1.000 1 2011 2011
dbSNP: rs20541
rs20541
IL13 ; TH2LCRR
52 0.585 0.720 5 132660272 missense variant A/G snv 0.72 0.77 0.810 1.000 3 2012 2014
dbSNP: rs3212227
rs3212227
IL12B
65 0.566 0.840 5 159315942 3 prime UTR variant T/G snv 0.26 0.030 1.000 3 2012 2019
dbSNP: rs568408
rs568408
IL12A ; IL12A-AS1
29 0.649 0.600 3 159995680 3 prime UTR variant G/A snv 0.16 0.030 1.000 3 2012 2017
dbSNP: rs2395185
rs2395185
HLA-DRB9
17 0.724 0.360 6 32465390 intron variant G/T snv 0.29 0.800 1.000 2 2012 2013
dbSNP: rs2734986
rs2734986
LOC105375010
5 0.827 0.160 6 29850791 intron variant T/C snv 0.10 0.700 1.000 2 2012 2014
dbSNP: rs121964877
rs121964877
CDH1
5 0.851 0.160 16 68822081 stop gained C/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs1800890
rs1800890
IL19
29 0.658 0.400 1 206776020 intron variant A/T snv 0.32 0.010 1.000 1 2012 2012
dbSNP: rs2248462
rs2248462 		10 0.807 0.240 6 31479019 downstream gene variant G/A snv 0.19 0.800 1.000 1 2012 2012
dbSNP: rs2273773
rs2273773
SIRT1
9 0.790 0.360 10 67906841 synonymous variant T/C snv 0.11 7.1E-02 0.010 1.000 1 2012 2012
dbSNP: rs360719
rs360719
IL18 ; TEX12 ; LOC107987164
7 0.790 0.480 11 112165426 non coding transcript exon variant A/G snv 0.25 0.010 1.000 1 2012 2012
dbSNP: rs7069102
rs7069102
SIRT1
10 0.790 0.440 10 67903362 intron variant C/G snv 0.64 0.010 1.000 1 2012 2012
dbSNP: rs7895833
rs7895833 		12 0.742 0.440 10 67863299 upstream gene variant G/A;C snv 0.010 1.000 1 2012 2012
dbSNP: rs1800795
rs1800795
IL6 ; STEAP1B ; IL6-AS1
140 0.494 0.840 7 22727026 intron variant C/G snv 0.71 0.020 0.500 2 2013 2018
dbSNP: rs1046089
rs1046089
PRRC2A
4 0.882 0.200 6 31635190 missense variant G/A snv 0.36 0.40 0.700 1.000 1 2013 2013
dbSNP: rs1244186
rs1244186
GATA3 ; GATA3-AS1
1 1.000 0.120 10 8050720 non coding transcript exon variant T/A;C snv 0.700 1.000 1 2013 2013
dbSNP: rs13195441
rs13195441 		2 0.925 0.200 6 32775521 intergenic variant G/A snv 0.30 0.700 1.000 1 2013 2013
dbSNP: rs13255292
rs13255292
PVT1
2 0.925 0.120 8 128064327 intron variant C/T snv 0.24 0.700 1.000 1 2013 2013