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: rs12938171
rs12938171
INTS2
1 1.000 0.120 17 61902994 intron variant G/A snv 9.0E-03 0.700 1.000 1 2011 2011
dbSNP: rs13063604
rs13063604
RUVBL1
3 0.882 0.120 3 128085887 intron variant G/A snv 0.23 0.010 1.000 1 2011 2011
dbSNP: rs13281615
rs13281615
POU5F1B ; CASC8 ; PCAT1 ; CASC21
18 0.716 0.360 8 127343372 intron variant A/G snv 0.43 0.010 < 0.001 1 2017 2017
dbSNP: rs1339552
rs1339552
BNC2
1 1.000 0.120 9 16848792 intron variant C/T snv 0.52 0.700 1.000 1 2009 2009
dbSNP: rs1416742
rs1416742
BNC2
1 1.000 0.120 9 16856885 intron variant G/A snv 0.43 0.700 1.000 1 2009 2009
dbSNP: rs1469713
rs1469713
GATAD2A
7 0.827 0.160 19 19417997 intron variant A/G snv 0.44 0.010 1.000 1 2016 2016
dbSNP: rs1516982
rs1516982
LINC00824
3 0.882 0.120 8 128521400 intron variant A/G snv 0.16 0.010 1.000 1 2012 2012
dbSNP: rs153109
rs153109
IL27
37 0.623 0.600 16 28507775 intron variant T/C snv 0.43 0.010 1.000 1 2016 2016
dbSNP: rs1544410
rs1544410
VDR
78 0.542 0.760 12 47846052 intron variant C/A;G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs17251221
rs17251221
CASR
18 0.724 0.360 3 122274400 intron variant A/G snv 0.11 0.010 1.000 1 2015 2015
dbSNP: rs1799750
rs1799750
MMP1 ; WTAPP1
48 0.592 0.760 11 102799765 intron variant C/- delins 0.50 0.010 1.000 1 2015 2015
dbSNP: rs185229225
rs185229225
BOD1L1
4 0.851 0.120 4 13607505 intron variant T/C snv 0.700 1.000 1 2016 2016
dbSNP: rs186724
rs186724
AHCYL1
3 0.882 0.120 1 110018293 intron variant C/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs1899663
rs1899663
HOTAIR
22 0.683 0.280 12 53967210 intron variant C/A snv 0.28 0.010 1.000 1 2018 2018
dbSNP: rs1989839
rs1989839
RASSF1 ; ZMYND10
8 0.790 0.160 3 50341515 intron variant A/G snv 0.22 0.20 0.010 1.000 1 2018 2018
dbSNP: rs2107425
rs2107425
MRPL23 ; H19
16 0.732 0.280 11 1999845 intron variant C/T snv 0.010 1.000 1 2009 2009
dbSNP: rs2153271
rs2153271
BNC2
3 0.925 0.160 9 16864523 intron variant C/T snv 0.43 0.700 1.000 1 2009 2009
dbSNP: rs2191249
rs2191249
BRIP1
3 0.882 0.120 17 61758503 intron variant T/G snv 0.79 0.010 1.000 1 2007 2007
dbSNP: rs2287497
rs2287497
TP53 ; WRAP53
3 0.882 0.120 17 7689462 intron variant G/A snv 0.25 0.010 1.000 1 2013 2013
dbSNP: rs230521
rs230521
NFKB1
4 0.851 0.160 4 102542171 intron variant C/G snv 0.59 0.010 1.000 1 2015 2015
dbSNP: rs2424913
rs2424913
DNMT3B
18 0.708 0.440 20 32786453 intron variant C/T snv 0.56 0.53 0.010 1.000 1 2013 2013
dbSNP: rs2494938
rs2494938
LRFN2
11 0.752 0.240 6 40568389 intron variant G/A snv 0.51 0.010 < 0.001 1 2014 2014
dbSNP: rs266851
rs266851
KLK15 ; LOC105372441
3 0.882 0.120 19 50833083 intron variant C/T snv 0.20 0.010 1.000 1 2011 2011
dbSNP: rs2699887
rs2699887
PIK3CA ; LOC101928739
11 0.763 0.280 3 179148620 intron variant C/T snv 0.18 0.010 1.000 1 2019 2019
dbSNP: rs2708861
rs2708861
HUS1
6 0.851 0.120 7 47977120 intron variant T/G snv 0.46 0.010 1.000 1 2012 2012