Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs778000327
SLC3A1
0.925 0.120 2 44280877 frameshift variant G/- del 2.7E-04 2
rs80359473
BRCA2
0.807 0.400 13 32339288 frameshift variant GAAA/- delins 12
rs72664220
ABCC6
0.882 0.280 16 16157770 frameshift variant -/G delins 5
rs779588655
SLC12A1
0.882 0.160 15 48234946 frameshift variant T/- delins 8.0E-06 3
rs80356708
GRHPR
0.882 0.160 9 37424862 frameshift variant G/- delins 3
rs1799983
NOS3
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 246
rs2228570
VDR
0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 99
rs731236
VDR
0.542 0.760 12 47844974 synonymous variant A/G snv 0.33 0.34 81
rs1544410
VDR
0.542 0.760 12 47846052 intron variant C/A;G;T snv 78
rs17576
MMP9
0.557 0.760 20 46011586 missense variant A/G snv 0.39 0.36 73
rs2231142
ABCG2
0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12 56
rs7975232
VDR
0.576 0.760 12 47845054 intron variant C/A snv 0.51 0.55 56
rs755622
MIF-AS1 ; MIF
0.611 0.720 22 23894205 intron variant G/C snv 0.26 44
rs1801725
CASR
0.633 0.600 3 122284910 missense variant G/T snv 0.13 0.11 39
rs72653706
ABCC6
0.695 0.480 16 16163078 stop gained G/A snv 1.4E-03 1.2E-03 32
rs10735810
VDR
0.662 0.640 12 47879112 start lost A/C;G;T snv 26
rs1042636
CASR
0.672 0.360 3 122284922 missense variant A/G snv 0.15 9.0E-02 23
rs16260
CDH1
0.716 0.440 16 68737131 upstream gene variant C/A snv 0.24 19
rs17251221
CASR
0.724 0.360 3 122274400 intron variant A/G snv 0.11 18
rs72653772
ABCC6
0.807 0.320 16 16190246 missense variant C/T snv 8.4E-05 1.1E-04 16
rs1131692231
CYFIP2
0.827 0.280 5 157294834 missense variant C/T snv 13
rs1801726
CASR
0.732 0.280 3 122284985 missense variant G/C snv 0.95 0.92 13
rs63750459
ABCC6
0.851 0.320 16 16163110 missense variant G/A snv 6.8E-05 6.3E-05 13
rs7652589 0.732 0.400 3 122170241 downstream gene variant A/G snv 0.60 13
rs63751241
ABCC6
0.882 0.280 16 16154638 missense variant C/T snv 4.0E-05 1.4E-05 12