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: rs3788266
rs3788266
12 0.732 0.160 21 46606442 upstream gene variant G/A snv 0.50 0.020 1.000 2 2007 2011
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.020 1.000 2 2004 2005
dbSNP: rs1062613
rs1062613
7 0.807 0.080 11 113975284 5 prime UTR variant T/C snv 0.79 0.71 0.010 1.000 1 2012 2012
dbSNP: rs1106854
rs1106854
5 0.827 0.080 2 75050887 intron variant T/C;G snv 0.010 1.000 1 2014 2014
dbSNP: rs1176744
rs1176744
19 0.708 0.240 11 113932306 missense variant A/C snv 0.33 0.36 0.010 1.000 1 2012 2012
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: rs1386482
rs1386482
5 0.827 0.080 12 72018792 intron variant T/G snv 0.52 0.010 1.000 1 2009 2009
dbSNP: rs1386483
rs1386483
9 0.790 0.080 12 72018714 intron variant T/C snv 0.53 0.010 1.000 1 2009 2009
dbSNP: rs1386486
rs1386486
5 0.827 0.080 12 72018440 intron variant A/G snv 0.53 0.010 1.000 1 2009 2009
dbSNP: rs1469698992
rs1469698992
8 0.776 0.080 9 131190453 missense variant G/A snv 0.010 < 0.001 1 1993 1993
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: rs166508
rs166508
5 0.827 0.080 3 37548944 intron variant T/C snv 0.44 0.010 1.000 1 2013 2013
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: rs17110563
rs17110563
7 0.827 0.080 12 71972526 missense variant C/T snv 1.2E-03 1.1E-03 0.010 1.000 1 2008 2008
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: rs2251219
rs2251219
14 0.732 0.120 3 52550771 synonymous variant T/C;G snv 0.39; 4.0E-06 0.34 0.010 1.000 1 2012 2012
dbSNP: rs2812393
rs2812393
6 0.807 0.080 1 231777927 intron variant G/C snv 0.61 0.010 1.000 1 2012 2012
dbSNP: rs2839350
rs2839350
5 0.827 0.080 21 46597307 downstream gene variant G/A snv 0.22 0.010 1.000 1 2007 2007
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: rs3771829
rs3771829
9 0.790 0.120 2 75137019 intron variant C/G snv 0.11 0.010 1.000 1 2014 2014
dbSNP: rs3831455
rs3831455
5 0.827 0.080 11 113904828 5 prime UTR variant GAG/- delins 0.010 1.000 1 2012 2012
dbSNP: rs4290270
rs4290270
17 0.724 0.320 12 72022455 synonymous variant A/T snv 0.57 0.55 0.010 1.000 1 2009 2009
dbSNP: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.010 1.000 1 1997 1997
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