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: rs1048943
rs1048943
88 0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02 0.010 1.000 1 2012 2012
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs1271546630
rs1271546630
MPO
2 1.000 0.120 17 58277848 missense variant G/A;C snv 0.010 1.000 1 2010 2010
dbSNP: rs1373756
rs1373756
2 1.000 0.120 18 52259936 intergenic variant C/T snv 0.24 0.010 1.000 1 2017 2017
dbSNP: rs16914640
rs16914640
2 1.000 0.120 12 9669791 missense variant C/G;T snv 0.14; 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs1816158
rs1816158
3 0.925 0.200 11 122155752 intron variant C/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs1864183
rs1864183
12 0.742 0.240 5 82253397 missense variant C/T snv 0.52 0.40 0.010 1.000 1 2017 2017
dbSNP: rs221236
rs221236
2 1.000 0.120 7 157529938 downstream gene variant G/A snv 0.96 0.010 1.000 1 2014 2014
dbSNP: rs221636
rs221636
2 1.000 0.120 6 105082089 3 prime UTR variant T/A snv 0.82 0.010 1.000 1 2014 2014
dbSNP: rs2238135
rs2238135
VDR
4 0.882 0.160 12 47884407 intron variant C/G snv 0.26 0.010 1.000 1 2012 2012
dbSNP: rs2241880
rs2241880
37 0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44 0.010 1.000 1 2017 2017
dbSNP: rs2274223
rs2274223
40 0.620 0.400 10 94306584 missense variant A/G snv 0.28 0.31 0.010 1.000 1 2013 2013
dbSNP: rs2910164
rs2910164
193 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 0.010 1.000 1 2012 2012
dbSNP: rs3759601
rs3759601
7 0.790 0.240 14 96311131 missense variant G/C snv 0.36 0.32 0.010 1.000 1 2017 2017
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2012 2012
dbSNP: rs7834169
rs7834169
3 0.925 0.120 8 27052774 upstream gene variant C/G snv 0.16 0.010 1.000 1 2017 2017