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: rs387906223
rs387906223
KLHDC8B
1 1.000 0.120 3 49171662 5 prime UTR variant C/T snv 4.8E-03 0.700 0
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: rs1800797
rs1800797
IL6 ; STEAP1B ; IL6-AS1
43 0.605 0.800 7 22726602 non coding transcript exon variant A/G snv 0.72 0.010 < 0.001 1 2013 2013
dbSNP: rs4918
rs4918
AHSG
12 0.763 0.400 3 186620593 missense variant G/A;C snv 0.67 0.010 < 0.001 1 2007 2007
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.020 0.500 2 2011 2012
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.020 0.500 2 2011 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: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.020 0.500 2 2011 2012
dbSNP: rs6903608
rs6903608
HLA-DRB9
11 0.742 0.400 6 32460508 intron variant C/G;T snv 0.800 1.000 4 2010 2014
dbSNP: rs2019960
rs2019960
PVT1
2 0.925 0.160 8 128180025 intron variant T/C snv 0.27 0.800 1.000 3 2010 2014
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: rs12917
rs12917
MGMT ; LOC105378560
45 0.605 0.480 10 129708019 missense variant C/T snv 0.14 0.14 0.020 1.000 2 2017 2019
dbSNP: rs1432295
rs1432295
LINC01185
1 1.000 0.120 2 60839531 intron variant G/A snv 0.69 0.800 1.000 2 2010 2013
dbSNP: rs1695
rs1695
GSTP1
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.020 1.000 2 2005 2012
dbSNP: rs1801725
rs1801725
CASR
39 0.633 0.600 3 122284910 missense variant G/T snv 0.13 0.11 0.020 1.000 2 2018 2019
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: rs4459895
rs4459895
LPP
5 0.827 0.160 3 188236626 intron variant A/C snv 0.88 0.700 1.000 2 2017 2017
dbSNP: rs4746
rs4746
GLO1
21 0.708 0.400 6 38682852 missense variant T/A;G snv 0.36 0.020 1.000 2 2008 2010
dbSNP: rs501764
rs501764
GATA3 ; GATA3-AS1
1 1.000 0.120 10 8051071 non coding transcript exon variant G/T snv 0.87 0.86 0.800 1.000 2 2010 2013
dbSNP: rs7652589
rs7652589 		13 0.732 0.400 3 122170241 downstream gene variant A/G snv 0.60 0.020 1.000 2 2016 2019
dbSNP: rs8099917
rs8099917 		60 0.581 0.600 19 39252525 upstream gene variant T/G snv 0.16 0.020 1.000 2 2017 2018
dbSNP: rs1002658
rs1002658 		1 1.000 0.120 6 137660447 intron variant C/T snv 0.15 0.700 1.000 1 2018 2018