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: 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: 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: rs1555605103
rs1555605103
1 17 58732536 stop gained C/T snv 0.700 1.000 2 2011 2013
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
dbSNP: rs730881941
rs730881941
2 1.000 17 58724037 splice acceptor variant CAGGG/- del 0.700 1.000 2 2013 2015
dbSNP: rs746993675
rs746993675
1 17 58696785 frameshift variant T/- delins 4.0E-06 0.700 1.000 2 2015 2016
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: rs774586107
rs774586107
1 17 58724105 splice region variant G/A snv 4.0E-06 0.700 1.000 2 2013 2015
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: rs760235677
rs760235677
3 0.925 17 58709991 splice donor variant G/A;T snv 1.2E-05 0.700 1.000 1 2011 2011
dbSNP: rs876659497
rs876659497
1 17 58703244 frameshift variant AT/- delins 0.700 1.000 1 2014 2014
dbSNP: rs1060502588
rs1060502588
1 17 58703316 stop gained C/G;T snv 0.700 0
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: rs1466185247
rs1466185247
1 17 58709972 frameshift variant A/- delins 4.0E-06 0.700 0
dbSNP: rs1555593450
rs1555593450
1 17 58694927 splice acceptor variant TCA/- del 0.700 0
dbSNP: rs1555593457
rs1555593457
1 17 58694929 splice acceptor variant A/G snv 0.700 0
dbSNP: rs1555593521
rs1555593521
1 17 58694983 stop gained -/AATG delins 0.700 0
dbSNP: rs1555593616
rs1555593616
2 1.000 17 58695035 stop gained A/T snv 0.700 0
dbSNP: rs1555593670
rs1555593670
1 17 58695062 stop gained C/T snv 0.700 0