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: rs786205436
rs786205436
5 0.882 0.080 11 112088972 missense variant A/G;T snv 0.810 1.000 1 2015 2015
dbSNP: rs137853192
rs137853192
1 1.000 0.080 19 35995443 missense variant G/C snv 0.800 1.000 3 2009 2016
dbSNP: rs137853193
rs137853193
1 1.000 0.080 19 35995438 missense variant G/A;C snv 5.7E-06 0.800 1.000 3 2009 2016
dbSNP: rs137852768
rs137852768
2 0.925 0.080 5 251338 missense variant G/A snv 4.1E-06 0.800 0
dbSNP: rs202198133
rs202198133
1 1.000 0.080 11 112088902 missense variant G/A snv 8.0E-06 0.800 0
dbSNP: rs142441643
rs142441643
15 0.732 0.320 5 223509 stop gained C/T snv 2.0E-04 2.4E-04 0.700 1.000 9 2011 2016
dbSNP: rs387906780
rs387906780
4 0.882 0.120 5 251439 missense variant C/T snv 1.2E-05 2.1E-05 0.700 1.000 7 2010 2017
dbSNP: rs1061517
rs1061517
3 0.925 0.080 5 218356 start lost A/C;G;T snv 8.7E-06 0.700 1.000 5 2000 2016
dbSNP: rs750380279
rs750380279
6 0.851 0.200 5 218357 start lost T/A;C;G snv 8.7E-06; 8.7E-06 0.700 1.000 4 2000 2016
dbSNP: rs878854632
rs878854632
2 0.925 0.080 5 225880 splice acceptor variant AGC/- delins 7.0E-06 0.700 1.000 3 2012 2015
dbSNP: rs1057523165
rs1057523165
3 0.925 0.080 5 223569 splice donor variant G/A snv 1.6E-05 7.0E-06 0.700 1.000 2 2012 2015
dbSNP: rs1285132774
rs1285132774
2 0.925 0.080 5 228184 splice acceptor variant G/A;T snv 0.700 1.000 2 2012 2015
dbSNP: rs748089700
rs748089700
3 0.925 0.080 5 240459 stop gained C/T snv 3.2E-05 4.9E-05 0.700 1.000 2 2013 2015
dbSNP: rs766667009
rs766667009
3 0.925 0.080 5 251104 splice donor variant G/T snv 4.0E-06 1.4E-05 0.700 1.000 2 2012 2015
dbSNP: rs781764920
rs781764920
3 0.925 0.080 5 224432 stop gained C/T snv 9.2E-05 2.8E-05 0.700 1.000 2 2013 2014
dbSNP: rs878854627
rs878854627
3 0.925 0.080 5 236599 splice donor variant GG/- del 4.0E-06 7.0E-06 0.700 1.000 2 2012 2015
dbSNP: rs151170408
rs151170408
3 0.925 0.080 5 235230 stop gained C/G snv 8.0E-06 7.0E-06 0.700 1.000 1 2011 2011
dbSNP: rs1553998199
rs1553998199
3 0.925 0.080 5 228248 frameshift variant G/- delins 0.700 1.000 1 2013 2013
dbSNP: rs1554000360
rs1554000360
2 0.925 0.080 5 240393 stop gained G/T snv 0.700 1.000 1 2017 2017
dbSNP: rs778207102
rs778207102
3 0.925 0.080 5 240396 stop gained G/T snv 4.0E-06 7.0E-06 0.700 1.000 1 2013 2013
dbSNP: rs1041809852
rs1041809852
2 0.925 0.080 5 228324 splice donor variant TGCCACAGGGTAGGAATCTCATTTCT/- delins 0.700 0
dbSNP: rs1060503711
rs1060503711
1 1.000 0.080 5 225906 missense variant T/C;G snv 0.700 0
dbSNP: rs1064793567
rs1064793567
3 0.925 0.080 5 240451 stop gained CG/GA mnv 0.700 0
dbSNP: rs137852767
rs137852767
2 0.925 0.120 5 251011 missense variant C/T snv 0.700 0
dbSNP: rs1553997617
rs1553997617
2 0.925 0.080 5 225483 frameshift variant C/- delins 0.700 0