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: rs1125927
rs1125927
2 0.925 0.080 13 62947758 intergenic variant G/A snv 9.2E-02 0.010 1.000 1 2019 2019
dbSNP: rs1126643
rs1126643
6 0.807 0.160 5 53051539 synonymous variant C/T snv 0.39 0.36 0.010 1.000 1 2009 2009
dbSNP: rs1126647
rs1126647
8 0.827 0.160 4 73743328 3 prime UTR variant A/T snv 0.31 0.010 1.000 1 2019 2019
dbSNP: rs1127678
rs1127678
2 0.925 0.080 17 82101611 3 prime UTR variant C/T snv 0.23 0.010 1.000 1 2010 2010
dbSNP: rs1131445
rs1131445
16 0.724 0.440 15 81309441 3 prime UTR variant T/A;C snv 0.010 1.000 1 2013 2013
dbSNP: rs1131450
rs1131450
MTR
2 0.925 0.080 1 236898549 3 prime UTR variant G/A snv 0.28 0.010 1.000 1 2016 2016
dbSNP: rs1136201
rs1136201
34 0.645 0.280 17 39723335 missense variant A/G;T snv 0.20 0.010 1.000 1 2004 2004
dbSNP: rs1149558
rs1149558
3 0.925 0.080 7 133363002 intron variant T/C;G snv 0.010 1.000 1 2014 2014
dbSNP: rs11536858
rs11536858
4 0.851 0.240 9 117701869 upstream gene variant G/A;T snv 0.010 1.000 1 2009 2009
dbSNP: rs11536891
rs11536891
4 0.851 0.120 9 117717059 3 prime UTR variant T/C snv 0.16 0.010 1.000 1 2009 2009
dbSNP: rs11536897
rs11536897
2 0.925 0.080 9 117717732 3 prime UTR variant G/A snv 5.1E-02 0.010 1.000 1 2009 2009
dbSNP: rs11545302
rs11545302
2 0.925 0.080 17 12996646 synonymous variant T/A;C;G snv 2.4E-05; 0.27; 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs11556218
rs11556218
27 0.653 0.600 15 81305928 missense variant T/G snv 9.6E-02 0.12 0.010 1.000 1 2012 2012
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: rs11639084
rs11639084
4 0.851 0.200 15 60774317 intron variant C/T snv 0.20 0.010 1.000 1 2019 2019
dbSNP: rs11639960
rs11639960
2 0.925 0.080 16 55499358 intron variant A/G snv 0.26 0.010 < 0.001 1 2008 2008
dbSNP: rs116890317
rs116890317
2 0.925 0.080 17 49321080 intron variant T/A snv 8.1E-03 0.010 1.000 1 2015 2015
dbSNP: rs117251022
rs117251022
5 0.827 0.120 13 49630641 missense variant G/A;C;T snv 8.8E-05; 1.9E-03 0.010 1.000 1 2008 2008
dbSNP: rs117576373
rs117576373
2 0.925 0.080 17 48743314 intergenic variant C/T snv 2.6E-02 0.010 1.000 1 2014 2014
dbSNP: rs11773818
rs11773818
2 0.925 0.080 7 55056275 intron variant C/A;T snv 0.24 0.010 1.000 1 2013 2013
dbSNP: rs118004742
rs118004742
2 0.925 0.080 17 47391492 stop gained T/G snv 4.4E-02 4.2E-02 0.010 1.000 1 2015 2015
dbSNP: rs1184094026
rs1184094026
2 0.925 0.080 3 50331675 missense variant T/G snv 8.0E-06 1.4E-05 0.010 1.000 1 2013 2013
dbSNP: rs11902171
rs11902171
6 0.925 0.080 2 186678500 3 prime UTR variant G/C snv 0.22 0.010 1.000 1 2014 2014
dbSNP: rs11913319
rs11913319
2 0.925 0.080 22 19880016 intron variant C/G snv 0.26 0.010 1.000 1 2015 2015
dbSNP: rs1192131078
rs1192131078
2 0.925 0.080 19 50858075 missense variant G/A snv 4.0E-06 0.010 1.000 1 2019 2019