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: rs2808630
rs2808630 		13 0.742 0.240 1 159711078 downstream gene variant C/T snv 0.77 0.010 < 0.001 1 2011 2011
dbSNP: rs28362930
rs28362930
SEMA7A
3 0.925 0.160 15 74408859 downstream gene variant G/A snv 0.16 0.010 1.000 1 2019 2019
dbSNP: rs2856717
rs2856717 		2 1.000 0.120 6 32702531 downstream gene variant A/G snv 0.64 0.700 1.000 1 2011 2011
dbSNP: rs9275424
rs9275424 		1 6 32702799 downstream gene variant A/G snv 0.30 0.700 1.000 1 2011 2011
dbSNP: rs17880135
rs17880135
SCAF4
1 21 31669690 upstream gene variant T/G snv 3.9E-02 0.020 1.000 2 2008 2011
dbSNP: rs1800764
rs1800764 		10 0.790 0.320 17 63473168 upstream gene variant C/G;T snv 0.020 1.000 2 2005 2009
dbSNP: rs12917707
rs12917707
UMOD
11 0.827 0.200 16 20356368 upstream gene variant G/T snv 0.14 0.010 < 0.001 1 2015 2015
dbSNP: rs1617640
rs1617640
EPO
15 0.742 0.520 7 100719675 upstream gene variant C/A;G;T snv 0.010 < 0.001 1 2015 2015
dbSNP: rs1800629
rs1800629
TNF
169 0.472 0.920 6 31575254 upstream gene variant G/A snv 0.12 0.14 0.010 1.000 1 2013 2013
dbSNP: rs1888747
rs1888747
FRMD3
2 1.000 0.120 9 83540636 upstream gene variant C/G snv 0.78 0.010 1.000 1 2016 2016
dbSNP: rs3115573
rs3115573 		2 1.000 0.120 6 32251066 upstream gene variant A/G snv 0.41 0.800 1.000 1 2010 2010
dbSNP: rs4728142
rs4728142 		18 0.732 0.320 7 128933913 upstream gene variant G/A snv 0.38 0.010 < 0.001 1 2012 2012
dbSNP: rs9275596
rs9275596 		7 0.827 0.280 6 32713854 upstream gene variant C/T snv 0.66 0.800 1.000 1 2011 2011
dbSNP: rs1025423410
rs1025423410
TLR1
1 4 38798831 start lost T/C snv 0.010 1.000 1 2015 2015
dbSNP: rs3764880
rs3764880
TLR8 ; TLR8-AS1
11 0.752 0.320 X 12906707 start lost A/G snv 0.31 0.30 0.010 1.000 1 2015 2015
dbSNP: rs776400293
rs776400293
TLR3
1 4 186076620 start lost A/G snv 4.0E-06 7.0E-06 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 2018 2018
dbSNP: rs9275224
rs9275224 		5 0.851 0.200 6 32692101 TF binding site variant A/G snv 0.53 0.700 1.000 1 2011 2011
dbSNP: rs5186
rs5186
AGTR1
38 0.630 0.560 3 148742201 3 prime UTR variant A/C snv 0.23 0.21 0.010 1.000 1 2013 2013
dbSNP: rs8731
rs8731
SUPT7L ; GPN1
1 2 27650459 3 prime UTR variant C/G snv 0.22 0.010 1.000 1 2011 2011
dbSNP: rs9932581
rs9932581
CYBA ; MVD
1 16 88651945 3 prime UTR variant C/T snv 0.39 0.010 1.000 1 2015 2015
dbSNP: rs2053044
rs2053044
ADRB2
5 1.000 0.040 5 148825809 5 prime UTR variant A/G snv 0.59 0.010 1.000 1 2015 2015
dbSNP: rs8177412
rs8177412
GPX3 ; LOC105378228
5 0.851 0.160 5 151020526 5 prime UTR variant T/C snv 0.15 0.010 1.000 1 2011 2011
dbSNP: rs5443
rs5443
GNB3 ; CDCA3
106 0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44 0.040 0.750 4 1998 2000
dbSNP: rs426496
rs426496
AQP2 ; LOC101927318
3 1.000 0.040 12 49954295 synonymous variant T/C snv 0.77 0.71 0.010 1.000 1 2016 2016