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: rs398124530
rs398124530
1 1.000 0.080 17 17214990 stop gained C/T snv 0.700 1.000 6 2005 2015
dbSNP: rs398124532
rs398124532
1 1.000 0.080 17 17213798 stop gained G/A;C snv 0.700 1.000 5 2006 2012
dbSNP: rs879255679
rs879255679
1 1.000 0.080 17 17215032 frameshift variant -/ACAG delins 0.700 1.000 5 2005 2015
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: rs1555607273
rs1555607273
1 1.000 0.080 17 17215299 frameshift variant C/- delins 0.700 1.000 2 2014 2018
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: rs1490424623
rs1490424623
1 1.000 0.080 17 17219194 stop gained G/C snv 4.0E-06 0.700 1.000 1 2010 2010
dbSNP: rs1555608515
rs1555608515
1 1.000 0.080 17 17219083 frameshift variant AG/- delins 0.700 1.000 1 2014 2014
dbSNP: rs1567819834
rs1567819834
1 1.000 0.080 17 17224030 stop gained G/T snv 0.700 1.000 1 2011 2011
dbSNP: rs398124538
rs398124538
1 1.000 0.080 17 17223929 stop gained GC/TA mnv 0.700 1.000 1 2010 2010
dbSNP: rs727504645
rs727504645
1 1.000 0.080 17 17224094 frameshift variant C/- delins 0.700 1.000 1 2002 2002
dbSNP: rs876657646
rs876657646
1 1.000 0.080 17 17223987 missense variant A/G;T snv 0.700 1.000 1 2013 2013
dbSNP: rs878855212
rs878855212
1 1.000 0.080 17 17228025 frameshift variant C/- del 0.700 1.000 1 2005 2005
dbSNP: rs878855213
rs878855213
1 1.000 0.080 17 17216461 frameshift variant T/- del 0.700 1.000 1 2016 2016
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: rs1060502369
rs1060502369
1 1.000 0.080 17 17227888 splice donor variant C/A snv 0.700 0
dbSNP: rs1060502370
rs1060502370
1 1.000 0.080 17 17227936 frameshift variant T/- del 0.700 0
dbSNP: rs1060502371
rs1060502371
1 1.000 0.080 17 17227899 frameshift variant T/- del 0.700 0
dbSNP: rs1135401752
rs1135401752
1 1.000 0.080 17 17224107 frameshift variant C/- del 0.700 0
dbSNP: rs1254608489
rs1254608489
1 1.000 0.080 17 17228017 stop gained G/A;C snv 7.0E-06 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: 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: rs1555608552
rs1555608552
1 1.000 0.080 17 17219101 frameshift variant -/C delins 0.700 0
dbSNP: rs1555608614
rs1555608614
1 1.000 0.080 17 17219148 frameshift variant AG/- del 0.700 0