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: rs2812393
rs2812393
6 0.807 0.080 1 231777927 intron variant G/C snv 0.61 0.010 1.000 1 2012 2012
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: rs766288
rs766288
7 0.790 0.080 1 231557942 intron variant G/T snv 0.40 0.010 1.000 1 2012 2012
dbSNP: rs821616
rs821616
13 0.752 0.200 1 232008852 missense variant A/T snv 0.26 0.29 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: rs3771829
rs3771829
9 0.790 0.120 2 75137019 intron variant C/G snv 0.11 0.010 1.000 1 2014 2014
dbSNP: rs707284
rs707284
6 0.807 0.080 2 211974321 intron variant T/A;C snv 0.010 1.000 1 2012 2012
dbSNP: rs839523
rs839523
5 0.827 0.080 2 211951364 intron variant C/T snv 0.40 0.010 1.000 1 2012 2012
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: 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: rs6280
rs6280
57 0.602 0.520 3 114171968 missense variant C/T snv 0.63 0.54 0.010 < 0.001 1 1993 1993
dbSNP: rs9834970
rs9834970
9 0.790 0.080 3 36814539 downstream gene variant T/C snv 0.45 0.010 1.000 1 2010 2010
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: rs1469698992
rs1469698992
8 0.776 0.080 9 131190453 missense variant G/A snv 0.010 < 0.001 1 1993 1993
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: 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: rs3831455
rs3831455
5 0.827 0.080 11 113904828 5 prime UTR variant GAG/- delins 0.010 1.000 1 2012 2012
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.010 1.000 1 2004 2004
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: 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: 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: 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