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: rs1060502368
rs1060502368
2 1.000 0.080 17 17219060 frameshift variant G/- delins 7.0E-06 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: rs1064792959
rs1064792959
2 1.000 0.080 17 17224022 frameshift variant ATGATGCTGTACCAGC/CTGAT delins 0.700 0
dbSNP: rs1064793128
rs1064793128
2 1.000 0.080 17 17215237 frameshift variant GA/- delins 0.700 1.000 6 2005 2017
dbSNP: rs1131690837
rs1131690837
2 1.000 0.080 17 17216466 frameshift variant -/A delins 0.700 0
dbSNP: rs1131690840
rs1131690840
2 1.000 0.080 17 17222662 splice acceptor variant C/T snv 0.700 1.000 1 2005 2005
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: 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: 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: 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: rs1555607273
rs1555607273
1 1.000 0.080 17 17215299 frameshift variant C/- delins 0.700 1.000 2 2014 2018
dbSNP: rs1555608515
rs1555608515
1 1.000 0.080 17 17219083 frameshift variant AG/- delins 0.700 1.000 1 2014 2014
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
dbSNP: rs1567807238
rs1567807238
1 1.000 0.080 17 17215072 frameshift variant T/- delins 0.700 0
dbSNP: rs1567816285
rs1567816285
1 1.000 0.080 17 17221604 frameshift variant C/- delins 0.700 0
dbSNP: rs1567819834
rs1567819834
1 1.000 0.080 17 17224030 stop gained G/T snv 0.700 1.000 1 2011 2011
dbSNP: rs1567822638
rs1567822638
1 1.000 0.080 17 17226200 frameshift variant CCTGGCGG/- delins 0.700 0
dbSNP: rs199643834
rs199643834
6 0.827 0.200 17 17215000 missense variant T/C snv 1.9E-04 1.7E-04 0.710 1.000 3 2013 2017
dbSNP: rs368778627
rs368778627
3 0.882 0.120 17 17222501 stop gained C/T snv 4.0E-06 0.700 1.000 2 2008 2012