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: rs3025039
rs3025039
VEGFA
62 0.576 0.720 6 43784799 3 prime UTR variant C/T snv 0.13 0.020 0.500 2 2014 2019
dbSNP: rs699947
rs699947
VEGFA
67 0.570 0.680 6 43768652 upstream gene variant A/C;T snv 0.020 0.500 2 2013 2018
dbSNP: rs1570360
rs1570360
VEGFA
38 0.641 0.680 6 43770093 upstream gene variant A/G snv 0.76 0.010 1.000 1 2014 2014
dbSNP: rs2010963
rs2010963
VEGFA
82 0.542 0.840 6 43770613 5 prime UTR variant C/G snv 0.68 0.010 < 0.001 1 2014 2014
dbSNP: rs833061
rs833061
VEGFA
42 0.605 0.600 6 43769749 upstream gene variant C/G;T snv 0.010 < 0.001 1 2014 2014
dbSNP: rs731236
rs731236
VDR
81 0.542 0.760 12 47844974 synonymous variant A/G snv 0.33 0.34 0.030 0.667 3 2011 2017
dbSNP: rs7975232
rs7975232
VDR
56 0.576 0.760 12 47845054 intron variant C/A snv 0.51 0.55 0.030 1.000 3 2008 2019
dbSNP: rs1544410
rs1544410
VDR
78 0.542 0.760 12 47846052 intron variant C/A;G;T snv 0.020 0.500 2 2017 2018
dbSNP: rs11168314
rs11168314
VDR
2 0.925 0.080 12 47936846 intron variant G/A snv 0.23 0.010 1.000 1 2010 2010
dbSNP: rs11574143
rs11574143
VDR
5 0.827 0.200 12 47841134 downstream gene variant C/T snv 0.11 0.010 1.000 1 2009 2009
dbSNP: rs2107301
rs2107301
VDR
7 0.807 0.120 12 47861787 intron variant G/A snv 0.26 0.010 1.000 1 2007 2007
dbSNP: rs2238135
rs2238135
VDR
4 0.882 0.160 12 47884407 intron variant C/G snv 0.26 0.010 1.000 1 2007 2007
dbSNP: rs2239182
rs2239182
VDR
2 0.925 0.080 12 47861628 intron variant T/C snv 0.51 0.010 1.000 1 2014 2014
dbSNP: rs2408876
rs2408876
VDR
2 0.925 0.080 12 47879782 intron variant T/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs7299460
rs7299460
VDR
2 0.925 0.080 12 47902485 intron variant C/T snv 0.43 0.010 1.000 1 2010 2010
dbSNP: rs10187424
rs10187424
VAMP8
2 0.925 0.080 2 85567174 intron variant T/A;C snv 0.700 1.000 1 2011 2011
dbSNP: rs1529916
rs1529916
USP7
4 0.851 0.120 16 8897333 intron variant G/A snv 0.26 0.010 1.000 1 2010 2010
dbSNP: rs72551387
rs72551387
UGT2B17
3 0.882 0.080 4 68568232 missense variant C/A snv 5.7E-03 5.7E-03 0.020 0.500 2 2013 2017
dbSNP: rs1902023
rs1902023
UGT2B15
4 0.882 0.080 4 68670366 missense variant A/C snv 0.51 0.53 0.070 0.857 7 2000 2017
dbSNP: rs13112099
rs13112099
UGT2B15
2 0.925 0.080 4 68672015 upstream gene variant T/G snv 0.53 0.010 1.000 1 2013 2013
dbSNP: rs3100
rs3100
UGT2B15
2 0.925 0.080 4 68646936 3 prime UTR variant G/A snv 0.50 0.010 1.000 1 2013 2013
dbSNP: rs4148269
rs4148269
UGT2B15
3 0.882 0.080 4 68647129 missense variant T/G snv 0.55 0.49 0.010 1.000 1 2013 2013
dbSNP: rs7686914
rs7686914
UGT2B15
2 0.925 0.080 4 68672197 upstream gene variant T/A;C snv 0.010 1.000 1 2013 2013
dbSNP: rs7696472
rs7696472
UGT2B15
2 0.925 0.080 4 68672462 upstream gene variant G/A snv 0.53 0.010 1.000 1 2013 2013
dbSNP: rs11913319
rs11913319
TXNRD2
2 0.925 0.080 22 19880016 intron variant C/G snv 0.26 0.010 1.000 1 2015 2015