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: rs1303000329
rs1303000329
4 0.851 0.080 8 13110812 missense variant G/A;T snv 4.0E-06 0.700 0
dbSNP: rs137955120
rs137955120
1 1.000 19 49807197 missense variant C/T snv 1.5E-04 9.1E-05 0.700 0
dbSNP: rs139365610
rs139365610
1 1.000 19 49807348 missense variant C/A;T snv 2.4E-05; 8.1E-04 0.700 0
dbSNP: rs1563593163
rs1563593163
2 0.925 0.080 8 13099960 stop gained G/A snv 0.700 0
dbSNP: rs1565818580
rs1565818580
2 0.925 0.080 10 32908395 frameshift variant -/T delins 0.700 0
dbSNP: rs3127334
rs3127334
1 1.000 6 166160758 intron variant G/A snv 0.77 0.700 0
dbSNP: rs387907204
rs387907204
FUZ
1 1.000 19 49812733 missense variant G/A snv 0.700 0
dbSNP: rs6008777
rs6008777
1 1.000 22 46364140 missense variant G/A snv 5.9E-03 2.6E-02 0.700 0
dbSNP: rs775571796
rs775571796
1 1.000 1 115685423 missense variant G/T snv 1.2E-05 0.700 0
dbSNP: rs786201015
rs786201015
1 1.000 22 46409760 frameshift variant -/CA delins 1.2E-05 0.700 0
dbSNP: rs786201016
rs786201016
1 1.000 22 46396724 frameshift variant CA/- delins 0.700 0
dbSNP: rs786204030
rs786204030
3 0.882 0.080 1 11791276 stop gained C/T snv 0.700 0
dbSNP: rs1114167354
rs1114167354
1 1.000 10 34341696 missense variant T/C snv 0.800 1.000 1 2017 2017
dbSNP: rs267607167
rs267607167
1 1.000 1 160421171 missense variant C/G;T snv 4.0E-06; 8.0E-06 0.800 1.000 1 2010 2010
dbSNP: rs267607168
rs267607168
1 1.000 1 160425122 missense variant T/C snv 0.800 1.000 1 2010 2010
dbSNP: rs781461462
rs781461462
1 1.000 10 34331221 missense variant G/A;C;T snv 1.6E-05 0.800 1.000 1 2017 2017
dbSNP: rs12170597
rs12170597
1 1.000 22 46534853 missense variant G/A snv 1.2E-03 5.2E-03 0.700 1.000 1 2012 2012
dbSNP: rs1302482009
rs1302482009
1 1.000 8 143810730 missense variant G/A snv 2.8E-05 0.700 1.000 1 2012 2012
dbSNP: rs199688538
rs199688538
1 1.000 22 46378661 missense variant C/T snv 4.8E-04 4.3E-04 0.700 1.000 1 2012 2012
dbSNP: rs199923448
rs199923448
1 1.000 10 34382893 missense variant C/A;T snv 8.0E-06; 5.6E-05 0.700 1.000 1 2017 2017
dbSNP: rs557643577
rs557643577
1 1.000 10 34450451 splice region variant A/G snv 5.8E-05 0.700 1.000 1 2017 2017
dbSNP: rs61741871
rs61741871
1 1.000 22 46364084 missense variant G/C snv 7.9E-03 3.2E-02 0.700 1.000 1 2012 2012
dbSNP: rs757259023
rs757259023
1 1.000 10 34111495 missense variant C/T snv 1.3E-04 2.8E-05 0.700 1.000 1 2017 2017
dbSNP: rs762921297
rs762921297
1 1.000 10 34336232 missense variant T/A snv 2.6E-04 7.7E-05 0.700 1.000 1 2017 2017
dbSNP: rs778976254
rs778976254
2 1.000 14 58638335 missense variant C/T snv 6.0E-04 2.1E-05 0.700 1.000 1 2012 2012