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: rs398124532
rs398124532
1 1.000 0.080 17 17213798 stop gained G/A;C snv 0.700 1.000 5 2006 2012
dbSNP: rs753009073
rs753009073
1 1.000 0.080 17 17213815 frameshift variant -/T ins 8.0E-06; 3.6E-05 0.700 0
dbSNP: rs879255683
rs879255683
1 1.000 0.080 17 17213816 stop gained G/A snv 1.4E-05 0.700 1.000 5 2005 2015
dbSNP: rs878855214
rs878855214
1 1.000 0.080 17 17213858 splice acceptor variant T/C snv 0.700 0
dbSNP: rs398124530
rs398124530
1 1.000 0.080 17 17214990 stop gained C/T snv 0.700 1.000 6 2005 2015
dbSNP: rs879255682
rs879255682
1 1.000 0.080 17 17214991 stop gained C/T snv 0.700 0
dbSNP: rs879255681
rs879255681
1 1.000 0.080 17 17214993 inframe deletion CCT/- delins 0.700 0
dbSNP: rs879255680
rs879255680
1 1.000 0.080 17 17214995 frameshift variant C/- delins 0.700 0
dbSNP: rs398124529
rs398124529
1 1.000 0.080 17 17214999 inframe deletion CTT/- del 4.0E-06 7.0E-06 0.700 1.000 2 2011 2013
dbSNP: rs879255679
rs879255679
1 1.000 0.080 17 17215032 frameshift variant -/ACAG delins 0.700 1.000 5 2005 2015
dbSNP: rs757197845
rs757197845
1 1.000 0.080 17 17215064 frameshift variant -/AATCTTAT delins 0.700 0
dbSNP: rs1567807238
rs1567807238
1 1.000 0.080 17 17215072 frameshift variant T/- delins 0.700 0
dbSNP: rs398124528
rs398124528
2 1.000 0.080 17 17215092 splice acceptor variant T/C;G snv 0.700 1.000 1 2005 2005
dbSNP: rs755959303
rs755959303
2 1.000 0.080 17 17215184 splice donor variant C/G;T snv 4.0E-06 0.700 1.000 3 2005 2016
dbSNP: rs879255678
rs879255678
6 0.827 0.240 17 17215188 stop gained G/A snv 7.0E-06 0.700 1.000 5 2005 2017
dbSNP: rs137852929
rs137852929
3 0.925 0.080 17 17215228 stop gained G/A;C;T snv 6.0E-05 0.700 1.000 3 2002 2008
dbSNP: rs1064793128
rs1064793128
2 1.000 0.080 17 17215237 frameshift variant GA/- delins 0.700 1.000 6 2005 2017
dbSNP: rs1555607179
rs1555607179
1 1.000 0.080 17 17215243 frameshift variant TGGTCATCCTCACACCC/- delins 0.700 0
dbSNP: rs1555607212
rs1555607212
1 1.000 0.080 17 17215258 frameshift variant C/- delins 0.700 0
dbSNP: rs879255677
rs879255677
2 1.000 0.080 17 17215282 frameshift variant -/GCGGCTGCGTGGACCTC delins 0.700 1.000 2 2008 2010
dbSNP: rs1555607273
rs1555607273
1 1.000 0.080 17 17215299 frameshift variant C/- delins 0.700 1.000 2 2014 2018
dbSNP: rs398124527
rs398124527
2 1.000 0.080 17 17215312 frameshift variant A/- delins 0.700 0
dbSNP: rs879255676
rs879255676
2 1.000 0.080 17 17216379 splice donor variant C/T snv 0.700 0
dbSNP: rs1266098984
rs1266098984
1 1.000 0.080 17 17216380 stop gained C/A;G snv 4.0E-06 0.700 0
dbSNP: rs879255675
rs879255675
1 1.000 0.080 17 17216393 frameshift variant -/T delins 0.700 0