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: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.040 1.000 4 2014 2018
dbSNP: rs11554290
rs11554290
59 0.583 0.600 1 114713908 missense variant T/A;C;G snv 0.720 1.000 3 2016 2017
dbSNP: rs1057519695
rs1057519695
35 0.641 0.520 1 114713907 missense variant TT/CA;CC mnv 0.020 1.000 2 2016 2017
dbSNP: rs1057519834
rs1057519834
31 0.658 0.480 1 114713908 missense variant TG/CT mnv 0.020 1.000 2 2016 2017
dbSNP: rs1136410
rs1136410
70 0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15 0.020 1.000 2 2012 2018
dbSNP: rs121913255
rs121913255
26 0.667 0.400 1 114713907 missense variant T/A;G snv 0.700 1.000 1 2016 2016
dbSNP: rs147394161
rs147394161
2 0.925 0.120 1 21598453 missense variant T/C snv 9.5E-03 1.0E-02 0.010 < 0.001 1 2010 2010
dbSNP: rs2145418
rs2145418
3 0.882 0.080 1 118422631 intergenic variant C/A snv 0.78 0.010 1.000 1 2008 2008
dbSNP: rs3219489
rs3219489
24 0.672 0.360 1 45331833 missense variant C/A;G snv 0.29 0.27 0.010 1.000 1 2012 2012
dbSNP: rs4658973
rs4658973
3 0.882 0.080 1 117956431 intron variant T/G snv 0.34 0.010 1.000 1 2008 2008
dbSNP: rs966423
rs966423
11 0.776 0.200 2 217445617 intron variant C/G;T snv 0.020 1.000 2 2012 2013
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: rs11674595
rs11674595
13 0.763 0.200 2 101994530 intron variant T/C snv 0.22 0.010 1.000 1 2019 2019
dbSNP: rs1207011218
rs1207011218
12 0.742 0.440 2 203870794 synonymous variant C/T snv 0.010 1.000 1 2018 2018
dbSNP: rs1248131654
rs1248131654
4 0.851 0.080 2 160367217 missense variant G/A snv 1.4E-05 0.010 1.000 1 2013 2013
dbSNP: rs1418810723
rs1418810723
FN1
9 0.851 0.080 2 215409981 missense variant A/T snv 8.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs200817352
rs200817352
2 1.000 0.080 2 113220126 missense variant G/A;C snv 2.0E-03; 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs2072472
rs2072472
13 0.732 0.200 2 102026557 intron variant A/G snv 0.24 0.010 1.000 1 2019 2019
dbSNP: rs2241880
rs2241880
37 0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44 0.010 1.000 1 2016 2016
dbSNP: rs231775
rs231775
115 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs3783521
rs3783521
8 0.807 0.200 2 112786000 upstream gene variant G/A snv 0.26 0.010 1.000 1 2019 2019
dbSNP: rs3917225
rs3917225
6 0.807 0.160 2 102152842 intron variant A/G snv 0.36 0.010 1.000 1 2019 2019
dbSNP: rs996807218
rs996807218
4 0.882 0.080 2 8827045 missense variant T/C snv 0.010 1.000 1 2018 2018
dbSNP: rs1057519936
rs1057519936
11 0.776 0.200 3 179234284 missense variant A/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519937
rs1057519937
11 0.776 0.200 3 179234285 missense variant T/C snv 0.700 1.000 1 2016 2016