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: rs779582317
rs779582317
2 1.000 17 58724038 splice acceptor variant A/C;G snv 1.2E-05 0.700 1.000 4 2013 2016
dbSNP: rs757128712
rs757128712
2 1.000 17 58692789 splice donor variant G/A;T snv 4.0E-06; 8.0E-06 0.700 1.000 3 2010 2015
dbSNP: rs730881941
rs730881941
2 1.000 17 58724037 splice acceptor variant CAGGG/- del 0.700 1.000 2 2013 2015
dbSNP: rs759292615
rs759292615
2 1.000 17 58732523 stop gained C/A;T snv 8.0E-06 0.700 1.000 2 2002 2017
dbSNP: rs1413872299
rs1413872299
2 1.000 17 58703195 splice acceptor variant G/C;T snv 4.0E-06 0.700 1.000 1 2015 2015
dbSNP: rs1555605074
rs1555605074
2 1.000 17 58732512 stop gained C/T snv 0.700 1.000 1 2017 2017
dbSNP: rs1060502605
rs1060502605
2 1.000 17 58720757 frameshift variant ATCA/-;ATCAATCA delins 0.700 0
dbSNP: rs145310733
rs145310733
2 1.000 17 58703194 splice acceptor variant A/G snv 4.0E-06 1.4E-05 0.700 0
dbSNP: rs1555593616
rs1555593616
2 1.000 17 58695035 stop gained A/T snv 0.700 0
dbSNP: rs1555599288
rs1555599288
2 1.000 17 58709991 splice donor variant G/- del 0.700 0
dbSNP: rs1555603056
rs1555603056
2 1.000 17 58724097 frameshift variant A/- delins 0.700 0
dbSNP: rs1567799818
rs1567799818
2 1.000 17 58709955 stop gained C/T snv 0.700 0
dbSNP: rs587782170
rs587782170
2 1.000 17 58694970 frameshift variant AA/- delins 0.700 0
dbSNP: rs730881932
rs730881932
2 1.000 0.200 17 58724069 missense variant C/T snv 8.0E-06 0.700 0
dbSNP: rs730881940
rs730881940
2 1.000 17 58695174 frameshift variant -/A delins 0.700 0
dbSNP: rs748589398
rs748589398
2 1.000 17 58720744 splice acceptor variant A/G;T snv 4.0E-06 0.700 0
dbSNP: rs786201909
rs786201909
2 1.000 17 58703254 stop gained T/G snv 0.700 0
dbSNP: rs786203945
rs786203945
2 1.000 17 58694964 frameshift variant CT/- delins 0.700 0
dbSNP: rs876658644
rs876658644
2 1.000 17 58703330 splice donor variant G/A snv 0.700 0
dbSNP: rs876658652
rs876658652
2 1.000 17 58724038 splice acceptor variant A/- del 7.0E-06 0.700 0
dbSNP: rs267606999
rs267606999
3 0.925 17 58696702 missense variant G/C snv 4.0E-06 1.4E-05 0.700 1.000 11 2010 2017
dbSNP: rs587782702
rs587782702
3 0.925 17 58720817 splice region variant G/T snv 1.6E-05 1.4E-05 0.700 1.000 7 2010 2015
dbSNP: rs587781410
rs587781410
3 0.925 17 58732548 inframe deletion GTA/- delins 0.700 1.000 6 2012 2017
dbSNP: rs587781287
rs587781287
3 0.925 17 58724090 stop gained C/A;T snv 8.0E-06 7.0E-06 0.700 1.000 4 2012 2016
dbSNP: rs587781995
rs587781995
3 0.925 17 58724038 splice acceptor variant AG/- del 1.2E-05 7.0E-06 0.700 1.000 2 2015 2016