Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs4986790 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 223
rs3775291 0.602 0.640 4 186082920 missense variant C/G;T snv 1.2E-04; 0.28 51
rs1800471 0.597 0.840 19 41352971 missense variant C/G;T snv 5.6E-02 48
rs1799889 0.649 0.600 7 101126430 upstream gene variant A/G snv 31
rs2287622 0.724 0.240 2 168973818 missense variant A/C;G;T snv 0.57 16
rs10774671 0.732 0.480 12 112919388 splice acceptor variant G/A;C snv 0.67 14
rs371194629 0.790 0.320 6 29830804 3 prime UTR variant -/ATTTGT;ATTTGTTCACGCCT;ATTTGTTCATGCCT ins 8
rs10814325 0.827 0.200 9 36036597 upstream gene variant T/A;C;G snv 7
rs1818879 0.827 0.120 7 22733108 downstream gene variant G/A;C snv 7
rs35068180 0.851 0.040 11 102845217 upstream gene variant A/-;AA delins 5
rs4273729 0.851 0.240 6 32710820 upstream gene variant C/A;G;T snv 5
rs3789679
AGT
0.925 0.120 1 230713948 intron variant G/A;T snv 4
rs179363879 0.925 0.160 21 44286092 missense variant T/C snv 3
rs1480480967 1.000 0.080 9 21367884 missense variant C/T snv 4.0E-06 2
rs17886084 1.000 0.080 11 102799765 intron variant C/- delins 2
rs781522558 1.000 12 56346844 stop gained G/C;T snv 4.0E-06 2
rs1364498756 14 24166173 missense variant G/A snv 1
rs139226823 X 71616597 missense variant C/G;T snv 5.5E-06; 5.7E-04 1
rs755850200
VDR
1.000 0.040 12 47846347 missense variant T/C snv 2.1E-05 7.0E-06 2
rs1217691063 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs1336795098 9 131127544 synonymous variant A/G snv 7.0E-06 1
rs397516808 12 112446327 synonymous variant A/G snv 1.6E-05 1.4E-05 1
rs1800477 0.763 0.480 18 63318540 missense variant C/T snv 1.8E-02 4.9E-03 12
rs1800562 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 262
rs4986791 0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 182