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: rs964184
rs964184
ZPR1
47 0.716 0.440 11 116778201 3 prime UTR variant G/C snv 0.82 0.700 1.000 1 2016 2016
dbSNP: rs7190256
rs7190256
ZFHX3
16 0.851 0.120 16 72963084 intron variant C/T snv 0.94 0.700 1.000 1 2016 2016
dbSNP: rs9470794
rs9470794
ZFAND3
3 0.925 0.080 6 38139068 intron variant T/C snv 0.12 0.010 1.000 1 2019 2019
dbSNP: rs12369179
rs12369179
ZCCHC8
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
XYLB
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
XRCC1
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
WFS1
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
WFS1
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
WFS1
3 0.925 0.080 4 6280234 intron variant C/G;T snv 0.010 1.000 1 2008 2008
dbSNP: rs1906436
rs1906436
WDR72
3 1.000 0.040 15 53590245 intron variant T/C snv 0.32 0.700 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 2000 2000
dbSNP: rs9677
rs9677
VIPR1
3 0.925 0.080 3 42537370 3 prime UTR variant C/T snv 0.39 0.010 1.000 1 2016 2016
dbSNP: rs1570360
rs1570360
VEGFA
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
VEGFA
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
VEGFA
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
VAV3
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
UTS2
13 0.776 0.360 1 7853370 missense variant G/A snv 0.51 0.52 0.010 1.000 1 2012 2012
dbSNP: rs2890565
rs2890565
UTS2
15 0.732 0.440 1 7849677 missense variant C/T snv 8.7E-02 5.6E-02 0.010 1.000 1 2012 2012
dbSNP: rs13333226
rs13333226
UMOD
10 0.827 0.200 16 20354332 intron variant A/G snv 0.23 0.710 1.000 2 2011 2018
dbSNP: rs12917707
rs12917707
UMOD
11 0.827 0.200 16 20356368 upstream gene variant G/T snv 0.14 0.700 1.000 1 2016 2016
dbSNP: rs12922822
rs12922822
UMOD
5 1.000 0.040 16 20356323 upstream gene variant C/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs150016118
rs150016118
UCP3
6 0.882 0.120 11 74006339 missense variant A/G snv 1.7E-05 6.3E-05 0.010 1.000 1 2011 2011