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: rs137852985
rs137852985
1 1.000 0.080 17 61808488 missense variant C/T snv 0.700 1.000 7 2001 2014
dbSNP: rs1292988272
rs1292988272
1 1.000 0.080 17 61857196 frameshift variant C/- del 4.0E-06 0.700 1.000 1 2018 2018
dbSNP: rs1060501772
rs1060501772
1 1.000 0.080 17 61776412 frameshift variant -/C delins 0.700 0
dbSNP: rs1342519012
rs1342519012
1 1.000 0.080 17 61683974 frameshift variant C/- delins 8.0E-06 0.700 0
dbSNP: rs1555580769
rs1555580769
1 1.000 0.080 17 61715952 frameshift variant T/- del 0.700 0
dbSNP: rs1555580957
rs1555580957
1 1.000 0.080 17 61716043 frameshift variant GTA/CAAAT delins 0.700 0
dbSNP: rs1555590286
rs1555590286
2 1.000 0.080 17 61743012 splice donor variant C/A;T snv 0.700 0
dbSNP: rs1555591365
rs1555591365
1 1.000 0.080 17 61744471 frameshift variant G/- del 0.700 0
dbSNP: rs1555616150
rs1555616150
1 1.000 0.080 17 61849158 frameshift variant T/- delins 0.700 0
dbSNP: rs1555616176
rs1555616176
2 0.925 0.080 17 61849196 frameshift variant T/- del 0.700 0
dbSNP: rs28903098
rs28903098
2 0.925 0.080 17 61859862 missense variant G/C;T snv 2.5E-04 0.700 0
dbSNP: rs587782726
rs587782726
2 1.000 0.080 17 61744449 frameshift variant ATTG/- delins 0.700 0
dbSNP: rs777213170
rs777213170
1 1.000 0.080 17 61683837 stop gained G/A;T snv 4.0E-06 0.700 0
dbSNP: rs786204250
rs786204250
1 1.000 0.080 17 61715996 stop gained C/T snv 0.700 0
dbSNP: rs864622166
rs864622166
1 1.000 0.080 17 61808519 frameshift variant A/- del 0.700 0
dbSNP: rs864622236
rs864622236
1 1.000 0.080 17 61801435 frameshift variant T/- del 0.700 0
dbSNP: rs878855159
rs878855159
1 1.000 0.080 17 61808494 frameshift variant -/A ins 0.700 0
dbSNP: rs756853672
rs756853672
2 0.925 0.200 17 61683645 frameshift variant G/- delins 1.2E-05 0.700 1.000 6 2005 2016
dbSNP: rs587780833
rs587780833
3 0.925 0.200 17 61847100 splice donor variant C/T snv 0.700 1.000 5 2005 2016
dbSNP: rs775537066
rs775537066
3 0.925 0.200 17 61776487 frameshift variant -/A delins 8.0E-06 2.1E-05 0.700 1.000 5 2006 2018
dbSNP: rs1295703239
rs1295703239
2 0.925 0.200 17 61685952 frameshift variant AGAT/-;AGATAGAT delins 7.0E-06 0.700 1.000 4 2008 2011
dbSNP: rs1555573327
rs1555573327
2 0.925 0.200 17 61685949 frameshift variant G/- delins 0.700 1.000 4 2008 2011
dbSNP: rs1555607022
rs1555607022
3 0.925 0.200 17 61799099 splice donor variant C/T snv 0.700 1.000 3 2005 2011
dbSNP: rs1555607628
rs1555607628
3 0.925 0.200 17 61801252 splice donor variant C/T snv 0.700 1.000 3 2005 2011
dbSNP: rs587782047
rs587782047
3 0.925 0.200 17 61861446 splice donor variant C/A;T snv 0.700 1.000 3 2005 2011