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 0.700 1.000 1 2016 2016
dbSNP: rs2106261
rs2106261
11 0.763 0.160 16 73017721 intron variant C/G;T snv 0.010 1.000 1 2011 2011
dbSNP: rs7190256
rs7190256
16 0.851 0.120 16 72963084 intron variant C/T snv 0.94 0.700 1.000 1 2016 2016
dbSNP: rs9470794
rs9470794
3 0.925 0.080 6 38139068 intron variant T/C snv 0.12 0.010 1.000 1 2019 2019
dbSNP: rs12369179
rs12369179
16 0.851 0.120 12 122479003 intron variant C/T snv 5.9E-02 0.700 1.000 1 2016 2016
dbSNP: rs17118
rs17118
4 0.925 0.120 3 38362981 missense variant C/A;T snv 0.29 0.010 1.000 1 2014 2014
dbSNP: rs25487
rs25487
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.010 1.000 1 2017 2017
dbSNP: rs2228000
rs2228000
XPC
53 0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 0.010 1.000 1 2016 2016
dbSNP: rs734312
rs734312
10 0.790 0.240 4 6301627 missense variant G/A snv 0.55 0.42 0.020 1.000 2 2008 2014
dbSNP: rs10010131
rs10010131
7 0.827 0.120 4 6291188 intron variant A/G snv 0.66 0.63 0.010 1.000 1 2008 2008
dbSNP: rs752854
rs752854
3 0.925 0.080 4 6280234 intron variant C/G;T snv 0.010 1.000 1 2008 2008
dbSNP: rs1906436
rs1906436
3 1.000 0.040 15 53590245 intron variant T/C snv 0.32 0.700 1.000 1 2019 2019
dbSNP: rs12522383
rs12522383
2 5 111119568 intron variant G/A snv 0.29 0.010 1.000 1 2015 2015
dbSNP: rs1063856
rs1063856
VWF
14 0.763 0.400 12 6044368 missense variant T/C;G snv 0.31 0.010 1.000 1 2000 2000
dbSNP: rs9677
rs9677
3 0.925 0.080 3 42537370 3 prime UTR variant C/T snv 0.39 0.010 1.000 1 2016 2016
dbSNP: rs17697419
rs17697419
2 1.000 0.080 4 176687012 intron variant G/A snv 8.5E-02 0.010 1.000 1 2015 2015
dbSNP: rs17697515
rs17697515
2 1.000 0.080 4 176689270 intron variant C/T snv 5.1E-02 0.010 1.000 1 2015 2015
dbSNP: rs2333526
rs2333526
2 1.000 0.080 4 176782151 intron variant T/A;C snv 0.010 1.000 1 2015 2015
dbSNP: rs1570360
rs1570360
38 0.641 0.680 6 43770093 upstream gene variant A/G snv 0.76 0.010 1.000 1 2016 2016
dbSNP: rs3025039
rs3025039
62 0.576 0.720 6 43784799 3 prime UTR variant C/T snv 0.13 0.010 1.000 1 2018 2018
dbSNP: rs699947
rs699947
67 0.570 0.680 6 43768652 upstream gene variant A/C;T snv 0.010 1.000 1 2016 2016
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 2015 2015
dbSNP: rs2239179
rs2239179
VDR
9 0.790 0.200 12 47863983 intron variant T/C snv 0.39 0.010 1.000 1 2014 2014
dbSNP: rs7528153
rs7528153
4 0.925 0.080 1 107765105 missense variant T/A snv 0.58 0.64 0.010 1.000 1 2017 2017
dbSNP: rs228648
rs228648
13 0.776 0.360 1 7853370 missense variant G/A snv 0.51 0.52 0.020 1.000 2 2012 2018