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: rs1220000453
rs1220000453
5 0.882 0.120 11 58624189 synonymous variant C/T snv 0.010 < 0.001 1 2006 2006
dbSNP: rs2606345
rs2606345
16 0.732 0.360 15 74724835 intron variant C/A snv 0.46 0.010 1.000 1 2006 2006
dbSNP: rs936306
rs936306
3 0.925 0.080 15 51287401 intron variant C/T snv 0.30 0.010 1.000 1 2006 2006
dbSNP: rs6313
rs6313
82 0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40 0.040 1.000 4 2007 2007
dbSNP: rs1800497
rs1800497
56 0.620 0.400 11 113400106 missense variant G/A snv 0.26 0.26 0.010 1.000 1 2007 2007
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 2008 2008
dbSNP: rs662
rs662
157 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 0.010 < 0.001 1 2009 2009
dbSNP: rs776943620
rs776943620
ACE
7 0.851 0.120 17 63477287 missense variant G/A snv 2.1E-05 0.010 1.000 1 2009 2009
dbSNP: rs10473984
rs10473984
1 5 76971301 intron variant G/T snv 0.12 0.010 1.000 1 2010 2010
dbSNP: rs165599
rs165599
27 0.677 0.280 22 19969258 3 prime UTR variant G/A snv 0.56 0.010 1.000 1 2010 2010
dbSNP: rs5522
rs5522
19 0.732 0.320 4 148436323 missense variant C/T snv 0.88 0.89 0.010 1.000 1 2010 2010
dbSNP: rs1202184
rs1202184
7 0.851 0.120 7 87584585 intron variant C/T snv 0.39 0.010 1.000 1 2011 2011
dbSNP: rs1922242
rs1922242
8 0.827 0.120 7 87544351 intron variant A/T snv 0.43 0.010 1.000 1 2011 2011
dbSNP: rs2228305
rs2228305
3 0.925 0.120 17 82084916 missense variant C/T snv 4.1E-02 4.5E-02 0.010 1.000 1 2011 2011
dbSNP: rs2254298
rs2254298
23 0.701 0.200 3 8760542 intron variant G/A snv 0.16 0.010 1.000 1 2011 2011
dbSNP: rs33388
rs33388
12 0.776 0.360 5 143317730 intron variant A/T snv 0.53 0.010 1.000 1 2011 2011
dbSNP: rs368939818
rs368939818
13 0.763 0.280 11 49156734 missense variant G/A snv 4.0E-05 2.1E-05 0.010 1.000 1 2011 2011
dbSNP: rs6191
rs6191
4 0.925 0.040 5 143278591 3 prime UTR variant C/A snv 0.48 0.010 1.000 1 2011 2011
dbSNP: rs6198
rs6198
16 0.724 0.480 5 143278056 3 prime UTR variant T/C snv 0.12 0.010 1.000 1 2011 2011
dbSNP: rs755001634
rs755001634
13 0.763 0.280 11 49154384 stop gained G/A snv 1.2E-05 0.010 1.000 1 2011 2011
dbSNP: rs757891309
rs757891309
MTR
4 0.882 0.120 1 236850389 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs1799889
rs1799889
31 0.649 0.600 7 101126430 upstream gene variant A/G snv 0.010 1.000 1 2012 2012
dbSNP: rs2227631
rs2227631
13 0.742 0.200 7 101126257 upstream gene variant A/G snv 0.54 0.010 1.000 1 2012 2012
dbSNP: rs2234693
rs2234693
77 0.555 0.680 6 151842200 intron variant T/C snv 0.47 0.010 1.000 1 2012 2012
dbSNP: rs4570625
rs4570625
25 0.724 0.200 12 71938143 upstream gene variant G/T snv 0.27 0.010 1.000 1 2012 2012