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: 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: 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
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
dbSNP: rs398124533
rs398124533
2 1.000 0.080 17 17226324 splice acceptor variant T/C snv 4.0E-06 0.700 0
dbSNP: rs558699420
rs558699420
1 1.000 0.080 17 17222646 stop gained G/A;T snv 1.2E-05 0.700 0
dbSNP: rs750146811
rs750146811
3 0.925 0.080 17 17227900 frameshift variant CGAC/- delins 1.2E-05 0.700 0
dbSNP: rs753009073
rs753009073
1 1.000 0.080 17 17213815 frameshift variant -/T ins 8.0E-06; 3.6E-05 0.700 0
dbSNP: rs754616167
rs754616167
2 1.000 0.080 17 17228105 stop gained G/A;T snv 1.2E-05 0.700 0
dbSNP: rs757197845
rs757197845
1 1.000 0.080 17 17215064 frameshift variant -/AATCTTAT delins 0.700 0
dbSNP: rs758385503
rs758385503
1 1.000 0.080 17 17228089 frameshift variant G/-;GG delins 0.700 0