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: rs6736587
rs6736587
2 1.000 2 81628601 intergenic variant A/C snv 0.42 0.800 1.000 1 2013 2013
dbSNP: rs1294950721
rs1294950721
27 0.807 0.360 20 10645355 splice donor variant C/A;T snv 7.0E-06 0.700 0
dbSNP: rs1042713
rs1042713
63 0.576 0.800 5 148826877 missense variant G/A snv 0.42 0.43 0.010 1.000 1 2014 2014
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2002 2002
dbSNP: rs11191548
rs11191548
10 0.882 0.080 10 103086421 3 prime UTR variant T/C snv 8.6E-02 0.010 1.000 1 2012 2012
dbSNP: rs1143623
rs1143623
29 0.677 0.440 2 112838252 upstream gene variant C/G snv 0.24 0.010 1.000 1 2019 2019
dbSNP: rs1173771
rs1173771
9 5 32814922 regulatory region variant A/G snv 0.65 0.010 1.000 1 2012 2012
dbSNP: rs11953630
rs11953630
6 5 158418394 intergenic variant C/A;T snv 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 < 0.001 1 2002 2002
dbSNP: rs17367504
rs17367504
9 1.000 0.040 1 11802721 intron variant A/G snv 0.14 0.010 1.000 1 2012 2012
dbSNP: rs1801253
rs1801253
34 0.683 0.440 10 114045297 missense variant G/C snv 0.74 0.69 0.010 1.000 1 2014 2014
dbSNP: rs198358
rs198358
4 0.925 0.040 1 11844019 3 prime UTR variant T/C snv 0.32 0.010 1.000 1 2012 2012
dbSNP: rs2682826
rs2682826
11 0.807 0.280 12 117215033 3 prime UTR variant G/A snv 0.25 0.010 1.000 1 2019 2019
dbSNP: rs3837091
rs3837091
DDC
2 1.000 7 50561043 5 prime UTR variant TCTC/-;TC delins 0.23 0.010 1.000 1 2019 2019
dbSNP: rs4149601
rs4149601
8 0.882 0.160 18 58149559 splice region variant G/A snv 0.28 0.33 0.010 1.000 1 2009 2009
dbSNP: rs4880
rs4880
131 0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 0.010 1.000 1 2019 2019
dbSNP: rs5068
rs5068
13 0.776 0.160 1 11845917 3 prime UTR variant A/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs628031
rs628031
8 0.807 0.280 6 160139813 missense variant A/C;G snv 5.3E-05; 0.63 0.010 1.000 1 2019 2019
dbSNP: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.010 < 0.001 1 2002 2002
dbSNP: rs759304648
rs759304648
GSN
9 0.790 0.240 9 121312479 synonymous variant G/A snv 8.0E-05 3.5E-05 0.010 1.000 1 2010 2010
dbSNP: rs921451
rs921451
DDC
2 1.000 0.080 7 50555587 intron variant T/C snv 0.32 0.010 1.000 1 2019 2019