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: rs886039370
rs886039370
1 1.000 0.080 17 17219017 splice donor variant A/C;G snv 0.700 1.000 1 2005 2005
dbSNP: rs879255683
rs879255683
1 1.000 0.080 17 17213816 stop gained G/A snv 1.4E-05 0.700 1.000 5 2005 2015
dbSNP: rs879255682
rs879255682
1 1.000 0.080 17 17214991 stop gained C/T snv 0.700 0
dbSNP: rs879255681
rs879255681
1 1.000 0.080 17 17214993 inframe deletion CCT/- delins 0.700 0
dbSNP: rs879255680
rs879255680
1 1.000 0.080 17 17214995 frameshift variant C/- delins 0.700 0
dbSNP: rs879255679
rs879255679
1 1.000 0.080 17 17215032 frameshift variant -/ACAG delins 0.700 1.000 5 2005 2015
dbSNP: rs879255678
rs879255678
6 0.827 0.240 17 17215188 stop gained G/A snv 7.0E-06 0.700 1.000 5 2005 2017
dbSNP: rs879255677
rs879255677
2 1.000 0.080 17 17215282 frameshift variant -/GCGGCTGCGTGGACCTC delins 0.700 1.000 2 2008 2010
dbSNP: rs879255676
rs879255676
2 1.000 0.080 17 17216379 splice donor variant C/T snv 0.700 0
dbSNP: rs879255675
rs879255675
1 1.000 0.080 17 17216393 frameshift variant -/T delins 0.700 0
dbSNP: rs879255673
rs879255673
1 1.000 0.080 17 17217106 frameshift variant TCTGCTTTTCCAGATC/- delins 0.700 0
dbSNP: rs879255672
rs879255672
1 1.000 0.080 17 17217147 stop gained C/T snv 0.700 0
dbSNP: rs879255670
rs879255670
1 1.000 0.080 17 17219038 frameshift variant TGAAGACT/- delins 0.700 0
dbSNP: rs879255669
rs879255669
1 1.000 0.080 17 17219153 frameshift variant -/T delins 0.700 0
dbSNP: rs879255668
rs879255668
2 1.000 0.080 17 17219206 stop gained A/C snv 0.700 0
dbSNP: rs879255667
rs879255667
1 1.000 0.080 17 17221555 stop gained G/A snv 0.700 0
dbSNP: rs879255666
rs879255666
1 1.000 0.080 17 17221557 frameshift variant A/- del 0.700 0
dbSNP: rs879255664
rs879255664
4 0.882 0.200 17 17222517 missense variant G/A snv 0.010 1.000 1 2017 2017
dbSNP: rs879255663
rs879255663
1 1.000 0.080 17 17222528 stop gained C/T snv 0.700 0
dbSNP: rs879255662
rs879255662
1 1.000 0.080 17 17222542 frameshift variant ACTT/- del 0.700 0
dbSNP: rs879255661
rs879255661
1 1.000 0.080 17 17222647 frameshift variant CT/G delins 0.700 0
dbSNP: rs879255660
rs879255660
1 1.000 0.080 17 17224087 frameshift variant C/- del 0.700 0
dbSNP: rs879255658
rs879255658
3 0.882 0.160 17 17228135 start lost C/G snv 0.700 0
dbSNP: rs878855221
rs878855221
1 1.000 0.080 17 17219094 frameshift variant G/- delins 0.700 0
dbSNP: rs878855220
rs878855220
1 1.000 0.080 17 17221580 frameshift variant A/TCT delins 0.700 0