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: rs77370625
rs77370625
ZNF543
1 1.000 0.120 19 57328138 missense variant C/G snv 5.8E-03 2.8E-03 0.010 1.000 1 2015 2015
dbSNP: rs2188404
rs2188404
VPS50
1 1.000 0.120 7 93314448 intron variant T/C snv 0.30 0.010 1.000 1 2015 2015
dbSNP: rs2228570
rs2228570
VDR
99 0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 0.010 1.000 1 2019 2019
dbSNP: rs17019602
rs17019602
VAV3
1 1.000 0.120 1 107646236 intron variant A/G snv 0.19 0.710 1.000 2 2014 2017
dbSNP: rs12917707
rs12917707
UMOD
11 0.827 0.200 16 20356368 upstream gene variant G/T snv 0.14 0.010 1.000 1 2014 2014
dbSNP: rs7389
rs7389
TREH ; PHLDB1
1 1.000 0.120 11 118657756 3 prime UTR variant T/G snv 0.32 0.010 1.000 1 2019 2019
dbSNP: rs3803800
rs3803800
TNFSF13 ; TNFSF12-TNFSF13
7 0.807 0.240 17 7559652 missense variant A/G snv 0.70 0.64 0.830 1.000 4 2011 2017
dbSNP: rs10004195
rs10004195
TLR10
8 0.790 0.320 4 38783103 upstream gene variant T/A snv 0.29 0.010 1.000 1 2011 2011
dbSNP: rs4833095
rs4833095
TLR1
28 0.662 0.480 4 38798089 missense variant T/C snv 0.38 0.44 0.020 1.000 2 2011 2016
dbSNP: rs5743557
rs5743557
TLR1
4 0.882 0.160 4 38805206 5 prime UTR variant G/A snv 0.14 0.020 0.500 2 2011 2016
dbSNP: rs1800470
rs1800470
TGFB1
107 0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04 0.010 1.000 1 2005 2005
dbSNP: rs1800471
rs1800471
TGFB1
48 0.597 0.840 19 41352971 missense variant C/G;T snv 5.6E-02 0.010 1.000 1 2008 2008
dbSNP: rs7574865
rs7574865
STAT4
59 0.574 0.720 2 191099907 intron variant T/G snv 0.79 0.010 1.000 1 2018 2018
dbSNP: rs7634389
rs7634389
ST6GAL1
1 1.000 0.120 3 187020633 intron variant T/C snv 0.35 0.700 1.000 1 2015 2015
dbSNP: rs1126616
rs1126616
SPP1
8 0.827 0.280 4 87982701 synonymous variant C/G;T snv 0.32 0.26 0.010 1.000 1 2019 2019
dbSNP: rs9138
rs9138
SPP1
12 0.776 0.360 4 87983190 3 prime UTR variant A/C;T snv 0.010 1.000 1 2019 2019
dbSNP: rs4227
rs4227
SOX15 ; MPDU1
2 1.000 0.120 17 7587859 3 prime UTR variant G/T snv 0.71 0.67 0.800 1.000 1 2011 2011
dbSNP: rs4880
rs4880
SOD2
131 0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 0.010 1.000 1 2018 2018
dbSNP: rs140433921
rs140433921
SLC3A1
1 1.000 0.120 2 44286102 start lost T/C snv 2.0E-05 5.6E-05 0.010 1.000 1 2015 2015
dbSNP: rs1055901
rs1055901
SERPINB7
1 1.000 0.120 18 63805221 3 prime UTR variant T/C snv 0.61 0.010 < 0.001 1 2016 2016
dbSNP: rs1055902
rs1055902
SERPINB7
1 1.000 0.120 18 63805309 3 prime UTR variant C/T snv 0.59 0.010 1.000 1 2016 2016
dbSNP: rs7170151
rs7170151
RASGRP1
1 1.000 0.120 15 38554477 intron variant C/T snv 0.40 0.010 1.000 1 2016 2016
dbSNP: rs2071543
rs2071543
PSMB8 ; PSMB8-AS1
4 0.925 0.200 6 32843852 missense variant G/T snv 0.14 0.13 0.700 1.000 1 2014 2014
dbSNP: rs1001703993
rs1001703993
PPOX
3 0.882 0.120 1 161170696 missense variant G/A;T snv 8.0E-06 1.4E-05 0.010 1.000 1 2012 2012
dbSNP: rs662
rs662
PON1
157 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 0.010 1.000 1 2007 2007