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: rs1555454508
rs1555454508
18 0.790 0.240 15 44615487 stop gained GTA/ATC mnv 0.700 0
dbSNP: rs1469698992
rs1469698992
8 0.776 0.080 9 131190453 missense variant G/A snv 0.010 < 0.001 1 1993 1993
dbSNP: rs6318
rs6318
42 0.623 0.520 X 114731326 missense variant C/G;T snv 0.010 1.000 1 1996 1996
dbSNP: rs1267969615
rs1267969615
ACE
100 0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 0.010 1.000 1 2000 2000
dbSNP: rs147837176
rs147837176
8 0.776 0.080 5 1400949 missense variant T/C snv 3.1E-04 2.8E-04 0.010 1.000 1 2000 2000
dbSNP: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.010 1.000 1 2000 2000
dbSNP: rs169068
rs169068
12 0.742 0.280 16 1079872 missense variant C/T snv 0.54 0.50 0.010 1.000 1 2002 2002
dbSNP: rs34608001
rs34608001
5 0.827 0.080 16 1079441 synonymous variant G/A snv 1.7E-02 1.5E-02 0.010 1.000 1 2002 2002
dbSNP: rs4988483
rs4988483
11 0.752 0.240 16 1079010 missense variant C/A snv 3.7E-02 3.7E-02 0.010 1.000 1 2002 2002
dbSNP: rs1801028
rs1801028
24 0.716 0.200 11 113412762 missense variant G/C snv 2.7E-02 1.8E-02 0.020 1.000 2 1995 2003
dbSNP: rs1805069
rs1805069
1 1.000 0.040 4 6301521 missense variant G/A;T snv 9.5E-03; 1.6E-05 0.010 < 0.001 1 2003 2003
dbSNP: rs2230720
rs2230720
1 1.000 0.040 4 6301600 missense variant C/T snv 7.1E-03 2.8E-02 0.010 < 0.001 1 2003 2003
dbSNP: rs55814513
rs55814513
2 1.000 0.040 4 6301470 missense variant G/A;T snv 4.0E-03 0.010 < 0.001 1 2003 2003
dbSNP: rs6296
rs6296
23 0.732 0.160 6 77462543 synonymous variant C/G snv 0.31 0.27 0.010 < 0.001 1 2003 2003
dbSNP: rs734312
rs734312
10 0.790 0.240 4 6301627 missense variant G/A snv 0.55 0.42 0.010 < 0.001 1 2003 2003
dbSNP: rs1249624
rs1249624
1 1.000 0.040 18 11855801 intron variant C/G;T snv 0.010 1.000 1 2005 2005
dbSNP: rs140504
rs140504
3 0.882 0.040 22 23285182 missense variant A/G snv 0.81 0.86 0.010 1.000 1 2005 2005
dbSNP: rs1786581
rs1786581
1 1.000 0.040 18 11852183 3 prime UTR variant C/T snv 0.11 0.010 1.000 1 2005 2005
dbSNP: rs199620286
rs199620286
VDR
1 1.000 0.040 12 47857193 missense variant T/A snv 5.2E-05 2.8E-05 0.010 1.000 1 2005 2005
dbSNP: rs2076137
rs2076137
6 0.807 0.080 22 50077337 intron variant C/T snv 0.14 0.010 1.000 1 2005 2005
dbSNP: rs2235349
rs2235349
6 0.807 0.080 22 50079810 intron variant T/C snv 0.22 0.010 1.000 1 2005 2005
dbSNP: rs2236700
rs2236700
3 0.882 0.160 18 13826392 missense variant C/G;T snv 2.4E-05; 0.21; 4.0E-06 0.23 0.010 1.000 1 2005 2005
dbSNP: rs3847953
rs3847953
1 1.000 0.040 12 111327660 intron variant C/T snv 0.46 0.010 1.000 1 2005 2005
dbSNP: rs758921595
rs758921595
1 1.000 0.040 18 13826391 frameshift variant -/G ins 2.4E-05 2.8E-05 0.010 1.000 1 2005 2005
dbSNP: rs933399
rs933399
1 1.000 0.040 12 111369695 intron variant G/A snv 0.42 0.010 1.000 1 2005 2005