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: rs1131690837
rs1131690837
2 1.000 0.080 17 17216466 frameshift variant -/A delins 0.700 0
dbSNP: rs757197845
rs757197845
1 1.000 0.080 17 17215064 frameshift variant -/AATCTTAT delins 0.700 0
dbSNP: rs879255679
rs879255679
1 1.000 0.080 17 17215032 frameshift variant -/ACAG delins 0.700 1.000 5 2005 2015
dbSNP: rs1555608552
rs1555608552
1 1.000 0.080 17 17219101 frameshift variant -/C delins 0.700 0
dbSNP: rs398124526
rs398124526
1 1.000 0.080 17 17216476 frameshift variant -/G delins 4.0E-06 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: rs398124542
rs398124542
3 0.925 0.080 17 17219126 frameshift variant -/GTACTCTCTGGCAACACAGGGGCTTTCT delins 4.0E-05 0.700 1.000 3 2002 2016
dbSNP: rs776896550
rs776896550
2 1.000 0.080 17 17226224 frameshift variant -/T delins 4.0E-06 0.700 1.000 3 2008 2013
dbSNP: rs753009073
rs753009073
1 1.000 0.080 17 17213815 frameshift variant -/T ins 8.0E-06; 3.6E-05 0.700 0
dbSNP: rs879255669
rs879255669
1 1.000 0.080 17 17219153 frameshift variant -/T delins 0.700 0
dbSNP: rs879255675
rs879255675
1 1.000 0.080 17 17216393 frameshift variant -/T delins 0.700 0
dbSNP: rs398124527
rs398124527
2 1.000 0.080 17 17215312 frameshift variant A/- delins 0.700 0
dbSNP: rs876658390
rs876658390
2 1.000 0.080 17 17228079 frameshift variant A/- delins 0.700 0
dbSNP: rs879255666
rs879255666
1 1.000 0.080 17 17221557 frameshift variant A/- del 0.700 0
dbSNP: rs879255668
rs879255668
2 1.000 0.080 17 17219206 stop gained A/C snv 0.700 0
dbSNP: rs886039370
rs886039370
1 1.000 0.080 17 17219017 splice donor variant A/C;G snv 0.700 1.000 1 2005 2005
dbSNP: rs876657646
rs876657646
1 1.000 0.080 17 17223987 missense variant A/G;T snv 0.700 1.000 1 2013 2013
dbSNP: rs878855220
rs878855220
1 1.000 0.080 17 17221580 frameshift variant A/TCT delins 0.700 0
dbSNP: rs786203218
rs786203218
3 0.925 0.080 17 17224069 inframe deletion AAG/- delins 4.0E-06 7.0E-06 0.700 1.000 6 2008 2017
dbSNP: rs398124535
rs398124535
2 1.000 0.080 17 17226252 frameshift variant AC/GTG delins 0.700 1.000 2 2008 2011
dbSNP: rs879255662
rs879255662
1 1.000 0.080 17 17222542 frameshift variant ACTT/- del 0.700 0
dbSNP: rs1555608515
rs1555608515
1 1.000 0.080 17 17219083 frameshift variant AG/- delins 0.700 1.000 1 2014 2014
dbSNP: rs1555608614
rs1555608614
1 1.000 0.080 17 17219148 frameshift variant AG/- del 0.700 0
dbSNP: rs1064792959
rs1064792959
2 1.000 0.080 17 17224022 frameshift variant ATGATGCTGTACCAGC/CTGAT delins 0.700 0
dbSNP: rs1555607273
rs1555607273
1 1.000 0.080 17 17215299 frameshift variant C/- delins 0.700 1.000 2 2014 2018