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: rs34612342
rs34612342
32 0.653 0.400 1 45332803 missense variant T/C snv 1.5E-03 1.6E-03 0.800 1.000 14 2005 2019
dbSNP: rs36053993
rs36053993
31 0.677 0.280 1 45331556 missense variant C/T snv 3.0E-03 3.3E-03 0.770 1.000 14 2005 2017
dbSNP: rs140342925
rs140342925
5 0.882 0.120 1 45332445 missense variant C/T snv 8.4E-05 8.4E-05 0.710 1.000 5 2005 2015
dbSNP: rs587780078
rs587780078
4 0.882 0.120 1 45331514 frameshift variant -/CC delins 1.6E-04 2.7E-04 0.710 1.000 5 2009 2020
dbSNP: rs200495564
rs200495564
3 0.925 0.120 1 45332446 missense variant G/A snv 5.6E-05 2.8E-05 0.700 1.000 12 2005 2018
dbSNP: rs587782228
rs587782228
4 0.882 0.120 1 45330557 missense variant C/A;T snv 4.2E-06; 4.2E-06 0.700 1.000 11 2006 2015
dbSNP: rs138775799
rs138775799
3 0.925 0.120 1 45333472 stop gained G/A snv 1.2E-05 3.5E-05 0.700 1.000 8 2003 2010
dbSNP: rs1060501335
rs1060501335
2 0.925 0.120 1 45331684 missense variant A/G snv 0.700 1.000 6 2005 2015
dbSNP: rs587778541
rs587778541
3 0.925 0.120 1 45331219 inframe deletion CCT/- delins 9.5E-05 2.8E-05 0.700 1.000 6 2009 2016
dbSNP: rs765123255
rs765123255
5 0.851 0.120 1 45333436 missense variant G/A snv 4.0E-05 4.2E-05 0.700 1.000 6 2009 2015
dbSNP: rs143353451
rs143353451
5 0.851 0.120 1 45332794 missense variant C/A;G;T snv 4.0E-06; 4.0E-06; 1.2E-05 0.700 1.000 5 2010 2018
dbSNP: rs730881832
rs730881832
3 0.925 0.120 1 45333168 missense variant A/T snv 4.0E-06 0.700 1.000 5 2003 2016
dbSNP: rs730881833
rs730881833
6 0.827 0.160 1 45332242 missense variant C/A;T snv 4.0E-06; 2.8E-05 0.700 1.000 4 2007 2017
dbSNP: rs372267274
rs372267274
5 0.882 0.120 1 45333171 splice acceptor variant C/G;T snv 0.700 1.000 3 2004 2013
dbSNP: rs587778536
rs587778536
4 0.882 0.120 1 45331700 frameshift variant G/- delins 6.4E-05 4.2E-05 0.700 1.000 3 2008 2009
dbSNP: rs587780751
rs587780751
3 0.925 0.120 1 45332163 splice region variant T/G snv 7.6E-05 1.3E-04 0.700 1.000 3 2006 2010
dbSNP: rs121908380
rs121908380
4 0.882 0.160 1 45333449 stop gained G/A;T snv 1.4E-03; 1.2E-04 0.700 1.000 2 2008 2009
dbSNP: rs376790729
rs376790729
3 0.925 0.120 1 45331223 stop gained C/A;T snv 4.0E-06; 3.6E-05 0.700 1.000 1 2007 2007
dbSNP: rs587781295
rs587781295
2 1.000 0.080 1 45333166 stop gained C/T snv 0.700 1.000 1 2014 2014
dbSNP: rs1553129062
rs1553129062
1 1.000 0.080 1 45332831 frameshift variant C/- delins 0.700 0
dbSNP: rs200844166
rs200844166
3 0.882 0.160 1 45331240 missense variant G/T snv 2.4E-05 5.6E-05 0.700 0
dbSNP: rs587780082
rs587780082
3 0.925 0.120 1 45331835 stop gained G/A snv 8.2E-05 3.5E-05 0.700 0
dbSNP: rs746449748
rs746449748
3 0.925 0.120 1 45333561 splice acceptor variant C/- delins 1.6E-05 0.700 0
dbSNP: rs888691362
rs888691362
3 0.925 0.160 1 45333423 stop gained C/T snv 7.0E-06 0.700 0
dbSNP: rs1057517457
rs1057517457
6 0.851 0.120 1 45332804 frameshift variant GCCAGCCCAG/- delins 7.0E-06 0.010 1.000 1 2015 2015