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: rs28936700
rs28936700
9 0.776 0.120 2 38075207 missense variant C/G;T snv 5.0E-06; 3.2E-04 0.060 0.833 6 2002 2019
dbSNP: rs79204362
rs79204362
10 0.763 0.120 2 38071251 missense variant C/T snv 5.8E-03 1.7E-03 0.030 1.000 3 2003 2015
dbSNP: rs74315339
rs74315339
6 0.807 0.120 1 171652468 missense variant C/A snv 9.8E-04 1.3E-04 0.020 1.000 2 2005 2005
dbSNP: rs1042714
rs1042714
54 0.597 0.640 5 148826910 stop gained G/C;T snv 0.68 0.010 < 0.001 1 2003 2003
dbSNP: rs104893622
rs104893622
2 0.925 0.120 2 38071234 missense variant C/T snv 0.010 1.000 1 2000 2000
dbSNP: rs104893623
rs104893623
2 0.925 0.120 2 38075219 stop gained C/T snv 7.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs121907917
rs121907917
6 0.807 0.240 11 31794079 stop gained G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs121918355
rs121918355
7 0.807 0.280 14 74555629 stop gained G/A;T snv 2.1E-05; 4.2E-06 0.010 1.000 1 2011 2011
dbSNP: rs1272655298
rs1272655298
1 1.000 0.120 2 38074527 missense variant C/G;T snv 4.3E-06; 8.6E-06 0.010 1.000 1 2015 2015
dbSNP: rs1277989297
rs1277989297
FN1
2 0.925 0.200 2 215428270 stop gained G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs1800440
rs1800440
29 0.653 0.440 2 38070996 missense variant T/C;G snv 0.15; 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs1800888
rs1800888
23 0.695 0.400 5 148827322 missense variant C/T snv 9.1E-03 9.1E-03 0.010 < 0.001 1 2003 2003
dbSNP: rs2567206
rs2567206
7 0.827 0.200 2 38076389 non coding transcript exon variant G/A snv 0.23 0.010 1.000 1 2010 2010
dbSNP: rs3742793
rs3742793
1 1.000 0.120 14 74603790 intron variant G/C snv 0.48 0.010 1.000 1 2013 2013
dbSNP: rs55989760
rs55989760
3 0.882 0.120 2 38071195 missense variant C/G;T snv 2.9E-04 0.010 1.000 1 2008 2008
dbSNP: rs56010818
rs56010818
2 0.925 0.120 2 38071185 missense variant C/T snv 9.2E-05 7.7E-05 0.010 1.000 1 2009 2009
dbSNP: rs57865060
rs57865060
6 0.827 0.160 2 38074704 missense variant C/T snv 1.1E-02 5.7E-03 0.010 1.000 1 2018 2018
dbSNP: rs61738025
rs61738025
1 1.000 0.120 14 74552299 synonymous variant C/T snv 6.0E-02 6.4E-02 0.010 1.000 1 2016 2016
dbSNP: rs72481807
rs72481807
1 1.000 0.120 2 38074872 stop gained C/A;T snv 6.9E-06; 6.9E-06 0.010 1.000 1 2007 2007
dbSNP: rs72549379
rs72549379
2 0.925 0.120 2 38071264 missense variant C/T snv 1.6E-05 0.010 1.000 1 2010 2010
dbSNP: rs72549387
rs72549387
7 0.790 0.120 2 38075218 stop gained C/G;T snv 1.7E-04 0.010 1.000 1 2002 2002
dbSNP: rs72645318
rs72645318
3 0.882 0.200 17 50197057 stop gained G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs72651658
rs72651658
5 0.827 0.200 17 50190861 missense variant C/T snv 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs752829138
rs752829138
1 1.000 0.120 1 171638607 frameshift variant TC/- delins 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs9282671
rs9282671
4 0.851 0.120 2 38075148 missense variant A/T snv 3.6E-03 3.6E-03 0.010 < 0.001 1 2019 2019