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: rs1555605103
rs1555605103
1 17 58732536 stop gained C/T snv 0.700 1.000 2 2011 2013
dbSNP: rs746993675
rs746993675
1 17 58696785 frameshift variant T/- delins 4.0E-06 0.700 1.000 2 2015 2016
dbSNP: rs774586107
rs774586107
1 17 58724105 splice region variant G/A snv 4.0E-06 0.700 1.000 2 2013 2015
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: 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: rs1555593670
rs1555593670
1 17 58695062 stop gained C/T snv 0.700 0
dbSNP: rs1555594590
rs1555594590
1 17 58696719 frameshift variant -/A delins 0.700 0
dbSNP: rs1555594912
rs1555594912
1 17 58696850 frameshift variant AAGG/- del 0.700 0
dbSNP: rs1555597132
rs1555597132
1 17 58703245 frameshift variant TATT/- delins 0.700 0
dbSNP: rs1555599090
rs1555599090
1 17 58709858 splice acceptor variant G/T snv 0.700 0
dbSNP: rs1555602159
rs1555602159
1 17 58720813 splice donor variant G/A;T snv 0.700 0
dbSNP: rs1567786326
rs1567786326
1 17 58695099 stop gained C/G snv 0.700 0
dbSNP: rs587782286
rs587782286
1 17 58703275 frameshift variant AG/- delins 0.700 0
dbSNP: rs587782533
rs587782533
1 17 58694943 frameshift variant C/- del 0.700 0
dbSNP: rs587782699
rs587782699
1 17 58696787 frameshift variant -/TA delins 0.700 0
dbSNP: rs786202563
rs786202563
1 17 58694999 frameshift variant ACCAA/- delins 0.700 0
dbSNP: rs267606997
rs267606997
2 0.882 0.120 17 58709926 missense variant G/A snv 4.4E-05; 1.6E-05 2.1E-05 0.700 1.000 4 2010 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: 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