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: rs9981660
rs9981660 		3 0.882 0.080 21 42317828 upstream gene variant G/A snv 0.11 0.010 1.000 1 2013 2013
dbSNP: rs9972882
rs9972882
STARD3
4 0.925 0.080 17 39651445 intron variant A/C snv 0.66 0.010 1.000 1 2014 2014
dbSNP: rs9841504
rs9841504
ZBTB20
7 0.827 0.120 3 114643917 intron variant C/G;T snv 0.720 0.667 3 2011 2016
dbSNP: rs9589207
rs9589207
MIR19A ; MIR19B1 ; MIR20A ; MIR92A1 ; MIR17HG
4 0.925 0.080 13 91351335 mature miRNA variant G/A;C snv 5.4E-03; 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs957201
rs957201
IL36RN
2 0.925 0.080 2 113063623 3 prime UTR variant T/C snv 0.65 0.010 < 0.001 1 2015 2015
dbSNP: rs9564966
rs9564966 		4 0.851 0.120 13 73322084 intergenic variant A/G snv 0.52 0.010 1.000 1 2019 2019
dbSNP: rs9502893
rs9502893 		5 0.827 0.120 6 1339954 intergenic variant C/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs9471643
rs9471643
PGC
6 0.882 0.080 6 41751177 intron variant G/C snv 0.19 0.020 1.000 2 2014 2016
dbSNP: rs9426886
rs9426886
TRIM46
4 0.851 0.200 1 155179278 intron variant A/T snv 0.40 0.010 1.000 1 2013 2013
dbSNP: rs9382084
rs9382084
IL17F
2 0.925 0.080 6 52240869 intron variant G/A;T snv 0.010 1.000 1 2014 2014
dbSNP: rs937283
rs937283
MDM2
19 0.716 0.200 12 68808384 5 prime UTR variant A/G snv 0.37 0.010 1.000 1 2018 2018
dbSNP: rs9297976
rs9297976
PSCA ; JRK
7 0.790 0.160 8 142670817 intron variant T/C;G snv 0.020 1.000 2 2012 2013
dbSNP: rs9282861
rs9282861
SULT1A1
31 0.658 0.440 16 28606193 missense variant C/T snv 0.010 1.000 1 2005 2005
dbSNP: rs920778
rs920778
HOTAIR
36 0.633 0.480 12 53966448 intron variant G/A snv 0.57 0.040 1.000 4 2015 2020
dbSNP: rs917997
rs917997 		20 0.701 0.480 2 102454108 downstream gene variant T/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs911160
rs911160
AURKA
2 0.925 0.080 20 56382507 intron variant G/A;C snv 0.020 1.000 2 2017 2019
dbSNP: rs909253
rs909253
LTA ; LOC100287329
34 0.641 0.600 6 31572536 intron variant A/G;T snv 0.020 1.000 2 2012 2018
dbSNP: rs9005
rs9005
IL1RN
4 0.851 0.160 2 113133835 3 prime UTR variant G/A snv 0.29 0.010 1.000 1 2015 2015
dbSNP: rs895819
rs895819
LOC284454 ; MIR23A ; MIR24-2 ; MIR27A
46 0.623 0.560 19 13836478 non coding transcript exon variant T/A;C;G snv 0.34 0.38 0.060 0.833 6 2010 2019
dbSNP: rs894220185
rs894220185
NRP1
2 0.925 0.080 10 33334322 missense variant C/T snv 0.010 1.000 1 2015 2015
dbSNP: rs889312
rs889312 		14 0.732 0.360 5 56736057 regulatory region variant C/A snv 0.69 0.020 1.000 2 2014 2019
dbSNP: rs881844
rs881844
STARD3
4 0.925 0.080 17 39653965 intron variant C/G snv 0.51 0.010 1.000 1 2014 2014
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.080 0.875 8 2009 2015
dbSNP: rs873601
rs873601
ERCC5 ; BIVM-ERCC5
25 0.677 0.360 13 102875987 3 prime UTR variant G/A snv 0.59 0.020 1.000 2 2016 2017
dbSNP: rs869736
rs869736
PTPRCAP ; CORO1B
3 0.925 0.080 11 67437991 3 prime UTR variant C/A snv 0.53 0.010 1.000 1 2009 2009