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: rs1396171148
rs1396171148
5 0.851 0.200 2 222613892 missense variant T/G snv 0.700 0
dbSNP: rs1419129874
rs1419129874
5 0.851 0.200 2 222642894 missense variant A/G snv 7.0E-06 0.700 0
dbSNP: rs1466642025
rs1466642025
5 0.851 0.200 2 222631635 missense variant A/G snv 7.0E-06 0.700 0
dbSNP: rs1553553086
rs1553553086
9 0.827 0.280 2 222623699 missense variant C/T snv 0.700 0
dbSNP: rs1553554543
rs1553554543
5 0.851 0.200 2 222631606 missense variant T/C snv 0.700 0
dbSNP: rs367956522
rs367956522
7 0.851 0.240 13 51949798 splice acceptor variant T/C snv 2.4E-05 7.7E-05 0.700 0
dbSNP: rs757075712
rs757075712
15 0.763 0.200 10 58390856 missense variant C/T snv 1.6E-05 1.4E-05 0.700 0
dbSNP: rs137853590
rs137853590
3 0.882 0.160 16 30751140 stop gained C/T snv 4.0E-06 0.010 1.000 1 1998 1998
dbSNP: rs1800730
rs1800730
32 0.649 0.480 6 26090957 missense variant A/T snv 1.0E-02 1.0E-02 0.010 1.000 1 2003 2003
dbSNP: rs57749775
rs57749775
6 0.851 0.080 12 52904822 missense variant A/G;T snv 1.7E-03; 4.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs75961395
rs75961395
10 0.763 0.280 7 117509123 missense variant G/A;T snv 4.0E-05 0.010 1.000 1 2004 2004
dbSNP: rs1267969615
rs1267969615
ACE
100 0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs1695
rs1695
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.010 1.000 1 2005 2005
dbSNP: rs1800470
rs1800470
107 0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04 0.010 1.000 1 2005 2005
dbSNP: rs1800471
rs1800471
48 0.597 0.840 19 41352971 missense variant C/G;T snv 5.6E-02 0.010 1.000 1 2005 2005
dbSNP: rs2229113
rs2229113
10 0.763 0.360 11 117998955 missense variant A/G snv 0.74 0.74 0.010 1.000 1 2005 2005
dbSNP: rs4762
rs4762
AGT
35 0.637 0.440 1 230710231 missense variant G/A snv 0.12 0.11 0.010 1.000 1 2005 2005
dbSNP: rs56073403
rs56073403
AGT
3 0.882 0.160 1 230710009 missense variant T/C snv 7.2E-04 6.8E-04 0.010 1.000 1 2005 2005
dbSNP: rs571462252
rs571462252
2 0.925 0.080 12 52904720 missense variant G/A snv 0.010 1.000 1 2005 2005
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 2005 2005
dbSNP: rs11554495
rs11554495
19 0.701 0.240 12 52904798 missense variant C/A snv 4.9E-03 5.4E-03 0.020 1.000 2 2003 2006
dbSNP: rs3025058
rs3025058
26 0.658 0.600 11 102845217 upstream gene variant -/C;G ins 2.8E-04 0.010 1.000 1 2008 2008
dbSNP: rs3106796
rs3106796
3 0.882 0.160 2 188985047 non coding transcript exon variant A/G snv 0.35 0.010 1.000 1 2008 2008
dbSNP: rs4986791
rs4986791
182 0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 0.010 1.000 1 2008 2008
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2009 2009