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: rs267607165
rs267607165
18 0.708 0.520 16 89935679 missense variant G/A;C snv 0.020 1.000 2 2013 2015
dbSNP: rs1126485
rs1126485
1 1.000 0.160 8 38424522 missense variant A/G snv 0.010 1.000 1 2011 2011
dbSNP: rs114077338
rs114077338
NDN
1 1.000 0.160 15 23686265 missense variant A/G snv 1.1E-03 3.7E-03 0.010 1.000 1 2011 2011
dbSNP: rs1218450484
rs1218450484
1 1.000 0.160 3 57198887 missense variant C/A snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs121909173
rs121909173
5 0.851 0.240 3 57199901 missense variant C/G snv 2.8E-05 1.4E-05 0.010 1.000 1 2013 2013
dbSNP: rs121909635
rs121909635
6 0.827 0.240 8 38426158 missense variant C/T snv 0.010 < 0.001 1 2006 2006
dbSNP: rs121909636
rs121909636
7 0.827 0.240 8 38414569 stop gained G/A snv 0.010 < 0.001 1 2006 2006
dbSNP: rs1269636220
rs1269636220
5 0.851 0.280 10 120865109 missense variant A/G snv 0.010 1.000 1 2015 2015
dbSNP: rs1306416169
rs1306416169
5 0.851 0.280 9 137453808 missense variant C/T snv 0.010 1.000 1 2015 2015
dbSNP: rs137852515
rs137852515
2 0.925 0.160 X 8536852 missense variant C/T snv 0.010 1.000 1 2014 2014
dbSNP: rs137852660
rs137852660
3 0.882 0.160 10 101775209 missense variant G/A snv 1.1E-03 8.0E-04 0.010 < 0.001 1 2014 2014
dbSNP: rs138672528
rs138672528
2 0.925 0.160 20 5314027 missense variant C/T snv 3.2E-05 7.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs141929169
rs141929169
AXL
1 1.000 0.160 19 41238557 missense variant A/C snv 1.5E-03 1.4E-03 0.010 1.000 1 2014 2014
dbSNP: rs1424371425
rs1424371425
1 1.000 0.160 8 38461099 frameshift variant -/C delins 7.4E-05 4.2E-05 0.010 1.000 1 2008 2008
dbSNP: rs1487309678
rs1487309678
5 0.851 0.280 7 84014246 missense variant C/T snv 8.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs199573818
rs199573818
1 1.000 0.160 8 38417882 missense variant T/C;G snv 0.010 1.000 1 2014 2014
dbSNP: rs199979628
rs199979628
2 0.925 0.160 7 84134868 missense variant G/A snv 5.3E-04 4.3E-04 0.010 1.000 1 2018 2018
dbSNP: rs202203360
rs202203360
2 0.925 0.160 20 5314033 missense variant A/G snv 1.2E-04 3.5E-05 0.010 1.000 1 2017 2017
dbSNP: rs2229013
rs2229013
1 1.000 0.160 X 8535755 missense variant C/A;T snv 8.7E-04 0.010 1.000 1 2013 2013
dbSNP: rs267606805
rs267606805
5 0.851 0.240 8 38414173 missense variant G/T snv 0.010 < 0.001 1 2006 2006
dbSNP: rs267606806
rs267606806
5 0.851 0.240 8 38414166 missense variant G/A;C snv 1.2E-05 0.010 < 0.001 1 2006 2006
dbSNP: rs369831329
rs369831329
2 0.925 0.160 20 5302374 missense variant A/T snv 8.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs374447937
rs374447937
1 1.000 0.160 5 138465831 missense variant C/G snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs397515445
rs397515445
7 0.807 0.280 8 38414263 missense variant T/C snv 0.010 1.000 1 2015 2015
dbSNP: rs572007403
rs572007403
4 0.882 0.200 19 919955 missense variant C/A snv 3.3E-04 9.1E-05 0.010 1.000 1 2015 2015