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: rs3087243
rs3087243
CTLA4
44 0.623 0.720 2 203874196 downstream gene variant G/A snv 0.37 0.010 1.000 1 2014 2014
dbSNP: rs4714384
rs4714384
EDN1
2 0.925 0.080 6 12297620 downstream gene variant T/C snv 0.45 0.010 1.000 1 2017 2017
dbSNP: rs7652589
rs7652589 		13 0.732 0.400 3 122170241 downstream gene variant A/G snv 0.60 0.010 1.000 1 2016 2016
dbSNP: rs8014363
rs8014363 		3 0.882 0.160 14 53964857 downstream gene variant C/T snv 0.61 0.010 1.000 1 2014 2014
dbSNP: rs12917707
rs12917707
UMOD
11 0.827 0.200 16 20356368 upstream gene variant G/T snv 0.14 0.020 1.000 2 2012 2014
dbSNP: rs1617640
rs1617640
EPO
15 0.742 0.520 7 100719675 upstream gene variant C/A;G;T snv 0.020 1.000 2 2008 2010
dbSNP: rs4819554
rs4819554
IL17RA
10 0.776 0.320 22 17084145 upstream gene variant G/A snv 0.84 0.020 1.000 2 2012 2015
dbSNP: rs10137082
rs10137082
IL25
2 0.925 0.080 14 23370824 upstream gene variant C/T snv 0.23 0.010 1.000 1 2012 2012
dbSNP: rs1024611
rs1024611 		63 0.568 0.800 17 34252769 upstream gene variant A/G snv 0.28 0.010 1.000 1 2015 2015
dbSNP: rs10404257
rs10404257
ACTN4
2 0.925 0.080 19 38645846 upstream gene variant G/A snv 0.50 0.010 1.000 1 2012 2012
dbSNP: rs11571317
rs11571317
CTLA4
3 0.882 0.160 2 203867285 upstream gene variant C/T snv 5.2E-02 0.010 1.000 1 2014 2014
dbSNP: rs1570360
rs1570360
VEGFA
38 0.641 0.680 6 43770093 upstream gene variant A/G snv 0.76 0.010 1.000 1 2011 2011
dbSNP: rs16840252
rs16840252
CTLA4
8 0.776 0.480 2 203866796 upstream gene variant C/T snv 0.16 0.010 1.000 1 2014 2014
dbSNP: rs2575390
rs2575390
PRKCB
3 0.925 0.080 16 23835433 upstream gene variant G/A;C snv 0.010 1.000 1 2010 2010
dbSNP: rs3759126
rs3759126
AQP2
3 0.882 0.080 12 49950079 upstream gene variant A/G snv 0.23 0.010 1.000 1 2007 2007
dbSNP: rs3760106
rs3760106
PRKCB
3 0.925 0.080 16 23834475 upstream gene variant C/T snv 0.23 0.010 1.000 1 2010 2010
dbSNP: rs3957357
rs3957357
GSTA1
7 0.807 0.280 6 52803889 upstream gene variant A/G snv 0.63 0.010 1.000 1 2014 2014
dbSNP: rs4553808
rs4553808
CTLA4
28 0.672 0.320 2 203866282 upstream gene variant A/G;T snv 0.16 0.010 1.000 1 2014 2014
dbSNP: rs4897081
rs4897081 		3 0.882 0.160 6 149115402 upstream gene variant G/A;T snv 0.010 1.000 1 2008 2008
dbSNP: rs5742909
rs5742909
CTLA4
40 0.614 0.680 2 203867624 upstream gene variant C/T snv 6.7E-02 0.010 1.000 1 2014 2014
dbSNP: rs730947
rs730947 		2 0.925 0.080 2 218838575 upstream gene variant A/C snv 1.0E-01 0.010 1.000 1 2010 2010
dbSNP: rs743811
rs743811 		4 0.882 0.160 22 35396981 upstream gene variant T/A;C snv 0.010 1.000 1 2015 2015
dbSNP: rs3752462
rs3752462
MYH9
7 0.827 0.160 22 36314138 splice region variant T/C snv 0.57 0.53 0.010 1.000 1 2012 2012
dbSNP: rs112417755
rs112417755
GATA3
1 1.000 0.080 10 8073738 splice acceptor variant G/C;T snv 0.700 0
dbSNP: rs1057518923
rs1057518923
PKD1
3 0.925 0.200 16 2115395 frameshift variant -/C delins 0.700 0