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: rs727504292
rs727504292
3 0.882 0.120 3 30672250 missense variant G/A;C snv 1.6E-05 0.700 0
dbSNP: rs878854610
rs878854610
1 1.000 3 30674121 missense variant A/G;T snv 0.700 0
dbSNP: rs878854611
rs878854611
1 1.000 3 30691424 frameshift variant T/- del 0.700 0
dbSNP: rs876657852
rs876657852
2 0.925 5 122074155 missense variant A/C snv 0.700 1.000 2 2016 2016
dbSNP: rs886040966
rs886040966
LOX
3 0.882 0.040 5 122077861 stop gained C/T snv 0.700 1.000 2 2016 2019
dbSNP: rs111854391
rs111854391
18 0.716 0.280 9 99138006 stop gained C/A;T snv 4.0E-06 0.700 1.000 7 2006 2015
dbSNP: rs113605875
rs113605875
3 0.882 0.120 9 99149253 missense variant G/A;C;T snv 0.700 1.000 7 2005 2012
dbSNP: rs111426349
rs111426349
4 0.882 0.120 9 99149252 missense variant C/A;T snv 4.0E-06 0.700 1.000 6 2006 2016
dbSNP: rs1554700672
rs1554700672
1 1.000 9 99138065 stop gained G/T snv 0.700 1.000 1 2011 2011
dbSNP: rs387906697
rs387906697
2 1.000 9 99146594 stop gained C/T snv 0.700 1.000 1 2011 2011
dbSNP: rs886039176
rs886039176
1 1.000 9 99149250 missense variant T/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs1057524497
rs1057524497
1 1.000 9 99138017 stop gained G/A;T snv 0.700 0
dbSNP: rs1060502040
rs1060502040
1 1.000 9 99132634 stop gained C/T snv 0.700 0
dbSNP: rs1554701881
rs1554701881
1 1.000 9 99144730 splice acceptor variant A/C;G snv 0.700 0
dbSNP: rs1554702262
rs1554702262
1 1.000 9 99146610 splice donor variant G/A snv 0.700 0
dbSNP: rs1554702463
rs1554702463
1 1.000 9 99147701 missense variant G/C snv 0.700 0
dbSNP: rs1554799402
rs1554799402
2 0.925 0.040 9 134785008 missense variant G/C snv 0.700 0
dbSNP: rs863223832
rs863223832
1 1.000 9 99142590 missense variant C/A;T snv 0.700 0
dbSNP: rs869025494
rs869025494
1 1.000 9 136517851 stop gained G/A snv 0.700 0
dbSNP: rs387906592
rs387906592
14 0.752 0.280 10 88941309 missense variant C/T snv 0.700 1.000 5 2009 2013
dbSNP: rs112602953
rs112602953
2 0.925 0.120 10 88943813 missense variant C/G;T snv 4.0E-06 0.700 1.000 3 2007 2012
dbSNP: rs112901682
rs112901682
2 0.925 0.120 10 88948816 missense variant G/A;C snv 0.700 1.000 2 2011 2011
dbSNP: rs397516685
rs397516685
3 0.882 0.120 10 88939680 missense variant C/T snv 0.700 1.000 2 2009 2009
dbSNP: rs121434526
rs121434526
3 0.882 0.120 10 88941794 missense variant G/A snv 7.0E-06 0.700 0
dbSNP: rs727502878
rs727502878
2 0.925 0.120 10 88939595 missense variant C/G snv 0.700 0