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: rs964184
rs964184
47 0.716 0.440 11 116778201 3 prime UTR variant G/C snv 0.82 0.020 1.000 2 2013 2018
dbSNP: rs16998248
rs16998248
3 0.882 0.040 20 53581801 synonymous variant T/A snv 0.11 8.8E-02 0.010 1.000 1 2015 2015
dbSNP: rs35720349
rs35720349
3 0.882 0.040 20 53577121 missense variant G/A snv 3.4E-02 1.6E-02 0.010 1.000 1 2015 2015
dbSNP: rs16971436
rs16971436
4 0.851 0.080 16 72958864 missense variant T/C;G snv 1.2E-05; 7.1E-02 0.010 1.000 1 2014 2014
dbSNP: rs2106261
rs2106261
11 0.763 0.160 16 73017721 intron variant C/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs11556924
rs11556924
21 0.752 0.240 7 130023656 missense variant C/A;T snv 4.0E-06; 0.28 0.010 1.000 1 2017 2017
dbSNP: rs25487
rs25487
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.010 1.000 1 2013 2013
dbSNP: rs7819412
rs7819412
6 0.827 0.120 8 11187652 intron variant G/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs1063856
rs1063856
VWF
14 0.763 0.400 12 6044368 missense variant T/C;G snv 0.31 0.010 1.000 1 2005 2005
dbSNP: rs216311
rs216311
VWF
7 0.882 0.040 12 6019277 missense variant T/A;C snv 4.0E-06; 0.69 0.010 < 0.001 1 2012 2012
dbSNP: rs2010963
rs2010963
82 0.542 0.840 6 43770613 5 prime UTR variant C/G snv 0.68 0.030 1.000 3 2010 2018
dbSNP: rs699947
rs699947
67 0.570 0.680 6 43768652 upstream gene variant A/C;T snv 0.030 1.000 3 2010 2018
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 2016 2016
dbSNP: rs1010
rs1010
7 0.807 0.120 2 85581859 3 prime UTR variant T/C;G snv 0.010 1.000 1 2007 2007
dbSNP: rs756601757
rs756601757
3 0.882 0.040 1 161040847 missense variant G/A snv 8.0E-06 0.010 1.000 1 2020 2020
dbSNP: rs972655070
rs972655070
3 0.882 0.040 1 161040282 missense variant G/A snv 4.0E-06 1.4E-05 0.010 1.000 1 2020 2020
dbSNP: rs2516839
rs2516839
14 0.732 0.320 1 161043331 5 prime UTR variant C/T snv 0.49 0.010 1.000 1 2010 2010
dbSNP: rs660339
rs660339
24 0.695 0.320 11 73978059 missense variant G/A snv 0.41 0.43 0.010 1.000 1 2013 2013
dbSNP: rs7211
rs7211
6 0.827 0.200 1 145993449 3 prime UTR variant G/A;C;T snv 0.010 1.000 1 2016 2016
dbSNP: rs7212
rs7212
5 0.851 0.120 1 145992816 3 prime UTR variant G/C snv 0.16 0.010 1.000 1 2016 2016
dbSNP: rs2295490
rs2295490
16 0.724 0.320 20 388261 missense variant A/G;T snv 0.18; 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs1042522
rs1042522
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 1.000 1 2016 2016
dbSNP: rs3850641
rs3850641
17 0.716 0.400 1 173206693 intron variant A/G snv 0.14 0.010 1.000 1 2018 2018
dbSNP: rs2453021
rs2453021
6 0.807 0.080 1 7929506 intron variant C/A;T snv 0.010 < 0.001 1 2014 2014
dbSNP: rs17568
rs17568
12 0.752 0.320 1 1212042 synonymous variant C/T snv 0.37 0.31 0.010 1.000 1 2018 2018