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: rs1048943
rs1048943
CYP1A1
88 0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02 0.030 1.000 3 2012 2016
dbSNP: rs10499563
rs10499563
STEAP1B
7 0.807 0.120 7 22720869 intron variant T/C snv 0.21 0.020 1.000 2 2013 2017
dbSNP: rs1050450
rs1050450
GPX1
43 0.623 0.600 3 49357401 missense variant G/A snv 0.28 0.30 0.010 1.000 1 2016 2016
dbSNP: rs10505477
rs10505477
POU5F1B ; CASC8 ; PCAT1
31 0.658 0.400 8 127395198 intron variant A/G snv 0.40 0.040 1.000 4 2014 2016
dbSNP: rs10509670
rs10509670
PLCE1
5 0.851 0.080 10 94308190 intron variant A/G snv 0.30 0.010 1.000 1 2019 2019
dbSNP: rs10511729
rs10511729
LOC101929563
11 0.742 0.240 9 23557229 intron variant T/G snv 0.35 0.010 1.000 1 2014 2014
dbSNP: rs10512263
rs10512263
TGFBR1
4 0.851 0.120 9 99123789 intron variant T/C snv 6.5E-02 0.020 1.000 2 2014 2018
dbSNP: rs1051690
rs1051690
INSR
4 0.851 0.080 19 7116952 3 prime UTR variant T/C snv 0.83 0.010 1.000 1 2017 2017
dbSNP: rs1051740
rs1051740
EPHX1
56 0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 0.010 1.000 1 2006 2006
dbSNP: rs1052133
rs1052133
OGG1 ; CAMK1
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.100 0.800 15 2001 2017
dbSNP: rs1053023
rs1053023
STAT3
4 0.882 0.120 17 42313598 3 prime UTR variant T/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs1057317
rs1057317
TLR4
5 0.827 0.160 9 117715764 3 prime UTR variant C/A snv 0.010 1.000 1 2018 2018
dbSNP: rs1057519847
rs1057519847
EGFR
72 0.570 0.560 7 55191821 missense variant CT/AG mnv 0.010 1.000 1 2019 2019
dbSNP: rs1057519848
rs1057519848
EGFR
72 0.570 0.560 7 55191822 missense variant TG/GT mnv 0.010 1.000 1 2019 2019
dbSNP: rs1058808
rs1058808
ERBB2
27 0.658 0.360 17 39727784 missense variant C/G snv 0.61 0.52 0.010 1.000 1 2019 2019
dbSNP: rs1062935
rs1062935
RPTOR ; LOC400627
2 0.925 0.080 17 80966057 3 prime UTR variant T/C snv 0.40 0.010 1.000 1 2018 2018
dbSNP: rs1064261
rs1064261
MTOR
3 0.925 0.080 1 11228701 missense variant G/A;T snv 0.75; 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs10680577
rs10680577
EGLN2 ; RAB4B-EGLN2
10 0.776 0.160 19 40798690 intron variant -/TACT delins 0.010 1.000 1 2014 2014
dbSNP: rs10719
rs10719
DROSHA
24 0.677 0.680 5 31401340 3 prime UTR variant A/G;T snv 0.69 0.010 < 0.001 1 2017 2017
dbSNP: rs10739971
rs10739971
MIRLET7A1 ; MIRLET7F1
5 0.882 0.080 9 94175398 intron variant G/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs10746463
rs10746463
CD55
4 0.851 0.200 1 207337251 missense variant G/A;T snv 0.010 1.000 1 2015 2015
dbSNP: rs10787498
rs10787498
CASP7
2 0.925 0.080 10 113729891 3 prime UTR variant T/G snv 0.38 0.010 1.000 1 2013 2013
dbSNP: rs10811474
rs10811474 		11 0.742 0.240 9 21114238 intergenic variant A/G snv 0.44 0.010 1.000 1 2014 2014
dbSNP: rs10889677
rs10889677
IL23R
40 0.627 0.720 1 67259437 3 prime UTR variant C/A snv 0.27 0.030 1.000 3 2011 2019
dbSNP: rs10983755
rs10983755 		7 0.790 0.320 9 117702392 upstream gene variant G/A snv 3.2E-02 0.010 1.000 1 2014 2014