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: rs1566785444
rs1566785444
20 0.827 0.200 14 77025671 frameshift variant C/- delins 0.700 0
dbSNP: rs2283265
rs2283265
12 0.776 0.160 11 113414814 intron variant C/A snv 0.16 0.010 1.000 1 2014 2014
dbSNP: rs6191
rs6191
4 0.925 0.040 5 143278591 3 prime UTR variant C/A snv 0.48 0.010 1.000 1 2019 2019
dbSNP: rs6278
rs6278
2 1.000 0.080 11 113410002 3 prime UTR variant C/A snv 0.14 0.010 1.000 1 2014 2014
dbSNP: rs80356537
rs80356537
17 0.752 0.320 19 41970405 missense variant C/A;G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs27072
rs27072
11 0.807 0.120 5 1394407 3 prime UTR variant C/A;T snv 0.010 1.000 1 2008 2008
dbSNP: rs75634836
rs75634836
11 0.807 0.160 13 46835532 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs104893878
rs104893878
21 0.732 0.160 4 89835580 missense variant C/G snv 0.010 1.000 1 2011 2011
dbSNP: rs2110267
rs2110267
3 1.000 0.040 7 153838604 intergenic variant C/G snv 0.32 0.010 1.000 1 2013 2013
dbSNP: rs6296
rs6296
23 0.732 0.160 6 77462543 synonymous variant C/G snv 0.31 0.27 0.010 1.000 1 2017 2017
dbSNP: rs875989839
rs875989839
3 1.000 6 165450242 missense variant C/G snv 0.010 1.000 1 2016 2016
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: rs121912678
rs121912678
8 0.851 0.080 2 157774114 missense variant C/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs1541665
rs1541665
2 1.000 0.040 5 170715913 intron variant C/G;T snv 0.21 0.010 1.000 1 2017 2017
dbSNP: rs1800035
rs1800035
4 0.925 0.080 10 111078794 missense variant C/G;T snv 1.9E-03 0.010 < 0.001 1 2006 2006
dbSNP: rs372857241
rs372857241
2 1.000 0.080 6 1610586 stop gained C/G;T snv 1.8E-05 0.010 1.000 1 2015 2015
dbSNP: rs750257282
rs750257282
3 1.000 0.040 11 3038127 missense variant C/G;T snv 3.2E-05 0.010 1.000 1 2013 2013
dbSNP: rs945270
rs945270
3 0.925 0.040 14 55733755 intergenic variant C/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs387906846
rs387906846
19 0.807 0.280 1 26773716 stop gained C/G;T snv 0.700 0
dbSNP: rs104893877
rs104893877
59 0.614 0.360 4 89828149 missense variant C/T snv 0.040 1.000 4 2006 2018
dbSNP: rs63751438
rs63751438
16 0.776 0.120 17 46010388 missense variant C/T snv 0.020 1.000 2 2010 2016
dbSNP: rs1057518011
rs1057518011
4 1 1535766 missense variant C/T snv 0.010 1.000 1 2019 2019
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: rs121908672
rs121908672
3 0.925 0.080 11 68357802 missense variant C/T snv 0.010 1.000 1 2017 2017