Source: ALL
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: rs4994
rs4994
65 0.578 0.640 8 37966280 missense variant A/G snv 0.11 9.2E-02 0.030 1.000 3 1996 2014
dbSNP: rs1444739794
rs1444739794
GCK
3 0.925 0.080 7 44153324 missense variant A/G snv 4.0E-06 0.010 < 0.001 1 1998 1998
dbSNP: rs1267969615
rs1267969615
ACE
100 0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 0.070 0.714 7 1999 2014
dbSNP: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.070 0.714 7 1999 2014
dbSNP: rs1801278
rs1801278
38 0.637 0.560 2 226795828 missense variant C/G;T snv 4.0E-06; 5.2E-02 0.050 1.000 5 1999 2014
dbSNP: rs137852783
rs137852783
4 0.882 0.080 13 27920364 missense variant G/A;T snv 2.9E-03 0.040 0.750 4 1999 2004
dbSNP: rs1799883
rs1799883
36 0.658 0.440 4 119320747 missense variant T/A;C;G snv 0.73 0.030 1.000 3 1999 2010
dbSNP: rs137852784
rs137852784
3 0.925 0.080 13 27920314 missense variant A/T snv 1.5E-05 1.4E-05 0.020 1.000 2 1999 2000
dbSNP: rs1800566
rs1800566
59 0.576 0.680 16 69711242 missense variant G/A snv 0.25 0.21 0.020 1.000 2 1999 2016
dbSNP: rs1258159645
rs1258159645
37 0.630 0.600 16 69711128 missense variant G/A snv 7.0E-06 0.010 1.000 1 1999 1999
dbSNP: rs2229616
rs2229616
22 0.732 0.200 18 60372043 missense variant C/T snv 1.6E-02 1.6E-02 0.010 1.000 1 1999 1999
dbSNP: rs28936379
rs28936379
10 0.807 0.120 1 226888977 missense variant A/C;G;T snv 4.0E-06 0.010 < 0.001 1 1999 1999
dbSNP: rs1801282
rs1801282
131 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 0.100 0.813 32 2000 2014
dbSNP: rs1805192
rs1805192
121 0.510 0.840 3 12379739 missense variant C/G snv 0.100 0.813 32 2000 2019
dbSNP: rs1800562
rs1800562
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.100 0.800 15 2000 2019
dbSNP: rs137853240
rs137853240
8 0.807 0.080 12 120994405 missense variant G/A snv 1.4E-05 0.090 1.000 9 2000 2016
dbSNP: rs1799945
rs1799945
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.070 0.857 7 2000 2018
dbSNP: rs137852785
rs137852785
3 0.925 0.080 13 27920190 missense variant T/C snv 1.1E-04 1.0E-04 0.030 1.000 3 2000 2019
dbSNP: rs11575937
rs11575937
29 0.653 0.480 1 156136985 missense variant G/A;T snv 0.020 1.000 2 2000 2015
dbSNP: rs1169305
rs1169305
2 1.000 0.040 12 120999579 missense variant A/G snv 1.00 0.99 0.020 1.000 2 2000 2002
dbSNP: rs1063856
rs1063856
VWF
14 0.763 0.400 12 6044368 missense variant T/C;G snv 0.31 0.010 1.000 1 2000 2000
dbSNP: rs1131498
rs1131498
13 0.732 0.360 1 169707345 missense variant A/G snv 0.21 0.22 0.010 1.000 1 2000 2000
dbSNP: rs1240512008
rs1240512008
2 1.000 0.040 20 44413780 missense variant G/A snv 0.010 1.000 1 2000 2000
dbSNP: rs1406167595
rs1406167595
2 1.000 0.040 5 134114958 missense variant G/A snv 1.5E-05 0.010 1.000 1 2000 2000
dbSNP: rs142318174
rs142318174
2 1.000 0.040 12 120978923 missense variant G/C snv 2.0E-04 8.1E-04 0.010 1.000 1 2000 2000