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: rs6280
rs6280
57 0.602 0.520 3 114171968 missense variant C/T snv 0.63 0.54 0.020 0.500 2 1993 2012
dbSNP: rs1469698992
rs1469698992
8 0.776 0.080 9 131190453 missense variant G/A snv 0.010 < 0.001 1 1993 1993
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: rs6318
rs6318
42 0.623 0.520 X 114731326 missense variant C/G;T snv 0.010 1.000 1 1996 1996
dbSNP: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.100 1.000 16 1997 2017
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: rs113994095
rs113994095
31 0.701 0.360 15 89327201 missense variant C/T snv 5.1E-04 6.7E-04 0.700 1.000 41 2001 2018
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: rs6313
rs6313
82 0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40 0.050 1.000 5 2003 2014
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: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.100 0.842 38 2004 2019
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.100 0.833 36 2004 2019
dbSNP: rs10008257
rs10008257
2 0.925 0.040 4 94435177 intergenic variant G/A snv 0.63 0.020 1.000 2 2005 2009
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