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: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2010 2010
dbSNP: rs104893877
rs104893877
59 0.614 0.360 4 89828149 missense variant C/T snv 0.040 1.000 4 2006 2018
dbSNP: rs104893878
rs104893878
21 0.732 0.160 4 89835580 missense variant C/G snv 0.010 1.000 1 2011 2011
dbSNP: rs104895321
rs104895321
MVK
4 0.882 0.240 12 109591301 missense variant C/G;T snv 1.4E-04 0.010 1.000 1 2014 2014
dbSNP: rs104895358
rs104895358
MVK
2 12 109595148 missense variant G/A snv 1.2E-05 0.010 1.000 1 2016 2016
dbSNP: rs1051266
rs1051266
41 0.627 0.640 21 45537880 missense variant T/C;G snv 0.55; 4.4E-06 0.010 1.000 1 2017 2017
dbSNP: rs1057518011
rs1057518011
4 1 1535766 missense variant C/T snv 0.010 1.000 1 2019 2019
dbSNP: rs1057518644
rs1057518644
10 0.925 0.120 8 43192413 stop gained C/T snv 0.700 0
dbSNP: rs1057519475
rs1057519475
2 1.000 0.080 6 1610761 stop gained C/T snv 0.010 1.000 1 2015 2015
dbSNP: rs1057519866
rs1057519866
5 0.851 0.120 10 103093198 missense variant C/T snv 0.010 1.000 1 2015 2015
dbSNP: rs1060504185
rs1060504185
1 9 21971116 missense variant G/A;C snv 0.010 1.000 1 2011 2011
dbSNP: rs10938397
rs10938397
19 0.851 0.200 4 45180510 intergenic variant A/G snv 0.37 0.010 1.000 1 2013 2013
dbSNP: rs113488022
rs113488022
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.040 1.000 4 2013 2019
dbSNP: rs1156401234
rs1156401234
1 12 32740421 missense variant G/A snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs1170695
rs1170695
2 1.000 0.040 3 11013652 5 prime UTR variant A/G snv 0.35 0.010 1.000 1 2017 2017
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 1.000 2 2002 2008
dbSNP: rs121908153
rs121908153
4 0.882 0.080 1 247424356 missense variant G/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs121908672
rs121908672
3 0.925 0.080 11 68357802 missense variant C/T snv 0.010 1.000 1 2017 2017
dbSNP: rs121909731
rs121909731
7 0.851 0.120 10 87057692 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs121912436
rs121912436
7 0.827 0.080 21 31667274 missense variant G/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs121912438
rs121912438
58 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs121912678
rs121912678
8 0.851 0.080 2 157774114 missense variant C/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs121912703
rs121912703
ACE
2 17 63496977 missense variant C/T snv 3.7E-05 4.9E-05 0.010 1.000 1 2006 2006
dbSNP: rs121913377
rs121913377
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.040 1.000 4 2013 2019
dbSNP: rs121913470
rs121913470
13 0.776 0.200 17 39723967 missense variant T/C;G snv 0.010 1.000 1 2019 2019