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: rs1064797076
rs1064797076
1 1.000 0.120 11 62692385 frameshift variant AAGTGCGCGTG/- delins 0.700 0
dbSNP: rs606231168
rs606231168
2 0.925 0.120 9 136676681 splice acceptor variant C/G snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs764260414
rs764260414
2 0.925 0.120 9 136677440 missense variant C/T snv 8.0E-06 1.4E-05 0.700 0
dbSNP: rs137852973
rs137852973
13 0.752 0.200 11 62702493 missense variant G/A;C snv 7.0E-06 0.030 1.000 3 2004 2010
dbSNP: rs137852975
rs137852975
5 0.851 0.240 11 62692671 stop gained C/A snv 2.0E-05 1.4E-05 0.020 1.000 2 2007 2009
dbSNP: rs121434501
rs121434501
2 0.925 0.120 7 116526606 stop gained G/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs121908093
rs121908093
3 0.882 0.160 1 40285988 missense variant T/C snv 0.010 1.000 1 2003 2003
dbSNP: rs137852972
rs137852972
10 0.752 0.240 11 62702499 missense variant T/C snv 1.6E-05 0.010 1.000 1 2004 2004
dbSNP: rs267607619
rs267607619
3 0.882 0.160 1 156130666 missense variant G/C snv 0.010 1.000 1 2015 2015
dbSNP: rs267607639
rs267607639
3 0.882 0.200 1 156136939 missense variant T/C snv 0.010 1.000 1 2003 2003
dbSNP: rs563539429
rs563539429
5 0.851 0.240 9 136677540 missense variant C/A;G;T snv 4.1E-06; 8.1E-06; 1.5E-03 0.010 1.000 1 2013 2013
dbSNP: rs57077886
rs57077886
9 0.776 0.240 1 156114947 missense variant C/T snv 0.010 1.000 1 2018 2018
dbSNP: rs587783668
rs587783668
4 0.882 0.240 11 17387629 missense variant C/T snv 1.2E-05 0.010 1.000 1 2013 2013
dbSNP: rs58932704
rs58932704
8 0.776 0.200 1 156136413 missense variant C/T snv 0.010 1.000 1 2003 2003
dbSNP: rs879254764
rs879254764
7 0.827 0.360 19 11110752 frameshift variant G/- delins 0.010 1.000 1 2014 2014