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: rs7118999
rs7118999
ZPR1 ; BUD13
1 1.000 0.040 11 116774559 3 prime UTR variant C/A;T snv 0.010 1.000 1 2017 2017
dbSNP: rs2075291
rs2075291
ZPR1 ; APOA5
15 0.752 0.400 11 116790676 missense variant C/A;T snv 6.4E-03; 4.0E-06 0.720 1.000 3 2008 2019
dbSNP: rs121917821
rs121917821
ZPR1 ; APOA5
2 0.925 0.080 11 116790814 stop gained G/A snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs2266788
rs2266788
ZPR1 ; APOA5
19 0.763 0.440 11 116789970 3 prime UTR variant G/A snv 0.93 0.800 1.000 1 2011 2011
dbSNP: rs6589566
rs6589566
ZPR1
10 0.882 0.080 11 116781707 intron variant G/A;C;T snv 0.710 1.000 2 2014 2018
dbSNP: rs12286037
rs12286037
ZPR1
6 1.000 0.040 11 116781491 intron variant C/T snv 0.11 0.800 1.000 1 2011 2011
dbSNP: rs2075290
rs2075290
ZPR1
10 0.882 0.160 11 116782580 intron variant C/G;T snv 0.800 1.000 1 2011 2011
dbSNP: rs2160669
rs2160669
ZPR1
5 1.000 0.040 11 116776891 3 prime UTR variant C/T snv 0.92 0.010 1.000 1 2019 2019
dbSNP: rs603446
rs603446
ZPR1
2 1.000 0.040 11 116783719 intron variant C/T snv 0.33 0.700 1.000 1 2018 2018
dbSNP: rs964184
rs964184
ZPR1
47 0.716 0.440 11 116778201 3 prime UTR variant G/C snv 0.82 0.810 1.000 1 2012 2012
dbSNP: rs892051
rs892051
ZNF98 ; LOC105376917
2 1.000 0.040 19 22506585 intron variant T/C snv 0.78 0.700 1.000 1 2019 2019
dbSNP: rs13022873
rs13022873
ZNF512
7 0.882 0.120 2 27592643 intron variant A/C;T snv 0.700 1.000 1 2011 2011
dbSNP: rs6993770
rs6993770
ZFPM2 ; ZFPM2-AS1
9 0.925 0.080 8 105569300 intron variant A/T snv 0.31 0.020 1.000 2 2018 2018
dbSNP: rs7819412
rs7819412
XKR6
6 0.827 0.120 8 11187652 intron variant G/A;T snv 0.010 1.000 1 2010 2010
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: rs7965413
rs7965413
VWF
1 1.000 0.040 12 6125723 upstream gene variant C/T snv 0.53 0.010 1.000 1 2015 2015
dbSNP: rs2010963
rs2010963
VEGFA
82 0.542 0.840 6 43770613 5 prime UTR variant C/G snv 0.68 0.010 1.000 1 2020 2020
dbSNP: rs3025053
rs3025053
VEGFA
2 0.925 0.120 6 43785588 3 prime UTR variant G/A snv 8.6E-02 0.010 1.000 1 2014 2014
dbSNP: rs1544410
rs1544410
VDR
78 0.542 0.760 12 47846052 intron variant C/A;G;T snv 0.020 0.500 2 2018 2019
dbSNP: rs7975232
rs7975232
VDR
56 0.576 0.760 12 47845054 intron variant C/A snv 0.51 0.55 0.020 0.500 2 2018 2019
dbSNP: rs3737787
rs3737787
USF1 ; TSTD1
11 0.763 0.280 1 161039733 3 prime UTR variant G/A snv 0.21 0.010 1.000 1 2005 2005
dbSNP: rs2774279
rs2774279
USF1 ; ARHGAP30
3 0.925 0.080 1 161047766 synonymous variant C/T snv 0.27 0.27 0.010 1.000 1 2008 2008
dbSNP: rs2516839
rs2516839
USF1
14 0.732 0.320 1 161043331 5 prime UTR variant C/T snv 0.49 0.010 1.000 1 2005 2005
dbSNP: rs12988520
rs12988520
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A9
3 1.000 0.040 2 233698748 intron variant A/C snv 0.51 0.700 1.000 1 2019 2019
dbSNP: rs17863787
rs17863787
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A9
9 0.925 0.040 2 233702448 intron variant T/G snv 0.30 0.700 1.000 1 2019 2019