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: rs1114167406
rs1114167406
1 1.000 0.120 17 50185511 frameshift variant G/- del 0.700 1.000 1 2015 2015
dbSNP: rs72656352
rs72656352
1 1.000 0.120 17 50185535 frameshift variant GAATT/- del 0.700 0
dbSNP: rs1114167405
rs1114167405
1 1.000 0.120 17 50185564 frameshift variant -/G;GGGG delins 0.700 1.000 2 1990 2015
dbSNP: rs1555571529
rs1555571529
1 1.000 0.120 17 50185569 frameshift variant -/CCACATC delins 0.700 1.000 1 1990 1990
dbSNP: rs1555571647
rs1555571647
1 1.000 0.120 17 50185936 stop gained G/A snv 0.700 0
dbSNP: rs72656343
rs72656343
3 0.882 0.120 17 50186386 stop gained C/A;T snv 0.700 0
dbSNP: rs886039880
rs886039880
1 1.000 0.120 17 50186387 stop gained C/T snv 0.700 0
dbSNP: rs1555571755
rs1555571755
1 1.000 0.120 17 50186429 missense variant G/T snv 0.700 1.000 1 2014 2014
dbSNP: rs1555571766
rs1555571766
1 1.000 0.120 17 50186497 stop gained C/T snv 0.700 1.000 1 2016 2016
dbSNP: rs1114167402
rs1114167402
2 0.925 0.120 17 50186507 missense variant C/A;T snv 4.0E-06 0.700 1.000 1 2015 2015
dbSNP: rs72656340
rs72656340
1 1.000 0.120 17 50186664 missense variant T/C snv 0.700 1.000 1 2015 2015
dbSNP: rs1114167401
rs1114167401
1 1.000 0.120 17 50186666 frameshift variant T/- delins 0.700 1.000 1 2015 2015
dbSNP: rs1114167400
rs1114167400
1 1.000 0.120 17 50186701 frameshift variant -/GCCCT delins 0.700 1.000 1 2015 2015
dbSNP: rs72656339
rs72656339
1 1.000 0.120 17 50186797 missense variant A/C snv 0.700 1.000 12 1988 2014
dbSNP: rs1555571849
rs1555571849
1 1.000 0.120 17 50186807 missense variant T/C snv 0.700 0
dbSNP: rs1567752926
rs1567752926
1 1.000 0.120 17 50186813 frameshift variant C/- del 0.700 0
dbSNP: rs1114167399
rs1114167399
1 1.000 0.120 17 50186847 stop gained G/A snv 0.700 1.000 1 2015 2015
dbSNP: rs1567752998
rs1567752998
1 1.000 0.120 17 50186861 frameshift variant A/- delins 0.700 0
dbSNP: rs72656334
rs72656334
1 1.000 0.120 17 50186871 missense variant C/A snv 0.700 1.000 12 1988 2014
dbSNP: rs886042286
rs886042286
1 1.000 0.120 17 50186887 frameshift variant A/- del 0.700 1.000 1 2015 2015
dbSNP: rs1567753046
rs1567753046
1 1.000 0.120 17 50186887 frameshift variant -/G delins 0.700 0
dbSNP: rs1555571874
rs1555571874
1 1.000 0.120 17 50186913 frameshift variant -/G delins 0.700 0
dbSNP: rs72656326
rs72656326
1 1.000 0.120 17 50187014 splice donor variant C/T snv 0.700 1.000 3 1994 1998
dbSNP: rs67815019
rs67815019
2 0.925 0.120 17 50187041 missense variant C/A;T snv 0.700 1.000 6 2007 2017
dbSNP: rs1555571916
rs1555571916
1 1.000 0.120 17 50187051 frameshift variant A/- del 0.700 0