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: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.010 1.000 1 2019 2019
dbSNP: rs2228570
rs2228570
VDR
99 0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 0.020 1.000 2 2016 2019
dbSNP: rs731236
rs731236
VDR
81 0.542 0.760 12 47844974 synonymous variant A/G snv 0.33 0.34 0.030 0.333 3 2016 2019
dbSNP: rs1544410
rs1544410
VDR
78 0.542 0.760 12 47846052 intron variant C/A;G;T snv 0.020 1.000 2 2016 2019
dbSNP: rs17576
rs17576
MMP9
73 0.557 0.760 20 46011586 missense variant A/G snv 0.39 0.36 0.010 1.000 1 2018 2018
dbSNP: rs7975232
rs7975232
VDR
56 0.576 0.760 12 47845054 intron variant C/A snv 0.51 0.55 0.030 0.333 3 2016 2019
dbSNP: rs2231142
rs2231142
ABCG2
56 0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12 0.010 1.000 1 2019 2019
dbSNP: rs755622
rs755622
MIF ; MIF-AS1
44 0.611 0.720 22 23894205 intron variant G/C snv 0.26 0.010 1.000 1 2016 2016
dbSNP: rs1801725
rs1801725
CASR
39 0.633 0.600 3 122284910 missense variant G/T snv 0.13 0.11 0.010 1.000 1 2018 2018
dbSNP: rs10735810
rs10735810
VDR
26 0.662 0.640 12 47879112 start lost A/C;G;T snv 0.010 < 0.001 1 2019 2019
dbSNP: rs1042636
rs1042636
CASR
23 0.672 0.360 3 122284922 missense variant A/G snv 0.15 9.0E-02 0.060 1.000 6 2006 2019
dbSNP: rs72653706
rs72653706
ABCC6
32 0.695 0.480 16 16163078 stop gained G/A snv 1.4E-03 1.2E-03 0.700 0
dbSNP: rs16260
rs16260
CDH1
19 0.716 0.440 16 68737131 upstream gene variant C/A snv 0.24 0.010 1.000 1 2013 2013
dbSNP: rs17251221
rs17251221
CASR
18 0.724 0.360 3 122274400 intron variant A/G snv 0.11 0.010 < 0.001 1 2011 2011
dbSNP: rs7652589
rs7652589 		13 0.732 0.400 3 122170241 downstream gene variant A/G snv 0.60 0.060 1.000 6 2011 2019
dbSNP: rs1801726
rs1801726
CASR
13 0.732 0.280 3 122284985 missense variant G/C snv 0.95 0.92 0.010 1.000 1 2007 2007
dbSNP: rs756322971
rs756322971
CASR
9 0.763 0.240 3 122284955 missense variant C/A;G snv 0.010 1.000 1 2007 2007
dbSNP: rs1467568
rs1467568
SIRT1
8 0.776 0.320 10 67915401 intron variant A/G snv 0.46 0.010 1.000 1 2019 2019
dbSNP: rs1501899
rs1501899
CASR
8 0.790 0.240 3 122188481 intron variant A/G snv 0.62 0.040 1.000 4 2011 2019
dbSNP: rs121908525
rs121908525
AGXT
7 0.790 0.160 2 240875159 missense variant T/C snv 4.4E-05 5.6E-05 0.700 1.000 1 2018 2018
dbSNP: rs757343
rs757343
VDR
6 0.807 0.360 12 47845892 intron variant C/T snv 0.12 0.010 1.000 1 2016 2016
dbSNP: rs7955866
rs7955866
FGF23
6 0.807 0.240 12 4370383 missense variant G/A snv 0.13 0.11 0.010 1.000 1 2012 2012
dbSNP: rs72653772
rs72653772
ABCC6
16 0.807 0.320 16 16190246 missense variant C/T snv 8.4E-05 1.1E-04 0.700 0
dbSNP: rs80359473
rs80359473
BRCA2
12 0.807 0.400 13 32339288 frameshift variant GAAA/- delins 0.700 0
dbSNP: rs1014290
rs1014290
SLC2A9 ; LOC105374476
6 0.827 0.280 4 10000237 intron variant G/A snv 0.72 0.010 1.000 1 2010 2010