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: rs398124536
rs398124536
2 1.000 0.080 17 17226226 stop gained G/A;T snv 5.6E-05 0.700 1.000 1 2008 2008
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: rs879255664
rs879255664
4 0.882 0.200 17 17222517 missense variant G/A snv 0.010 1.000 1 2017 2017
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: rs1064792959
rs1064792959
2 1.000 0.080 17 17224022 frameshift variant ATGATGCTGTACCAGC/CTGAT delins 0.700 0
dbSNP: rs1131690837
rs1131690837
2 1.000 0.080 17 17216466 frameshift variant -/A delins 0.700 0
dbSNP: rs1135401752
rs1135401752
1 1.000 0.080 17 17224107 frameshift variant C/- del 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
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: rs1567822638
rs1567822638
1 1.000 0.080 17 17226200 frameshift variant CCTGGCGG/- delins 0.700 0
dbSNP: rs398124525
rs398124525
2 1.000 0.080 17 17216501 frameshift variant G/- 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: rs398124527
rs398124527
2 1.000 0.080 17 17215312 frameshift variant A/- delins 0.700 0