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: rs875989857
rs875989857
1 1.000 0.080 1 75734827 inframe deletion AAG/- delins 0.700 1.000 5 2010 2017
dbSNP: rs864621963
rs864621963
1 1.000 0.080 1 75733583 inframe deletion GGATGT/- delins 0.700 0
dbSNP: rs1057516778
rs1057516778
1 1.000 0.080 1 75724788 start lost A/G snv 0.700 0
dbSNP: rs1553121887
rs1553121887
1 1.000 0.080 1 75724790 start lost G/C snv 0.700 0
dbSNP: rs875989865
rs875989865
1 1.000 0.080 1 75724782 start lost GCCAACATGGCA/ACCCCGAAGG delins 0.700 0
dbSNP: rs765793260
rs765793260
1 1.000 0.080 1 75761116 splice region variant T/G snv 8.0E-05 1.4E-05 0.700 1.000 2 2011 2012
dbSNP: rs764942250
rs764942250
1 1.000 0.080 1 75734788 splice region variant T/G snv 4.0E-05 0.700 0
dbSNP: rs758753966
rs758753966
1 1.000 0.080 1 75761120 splice acceptor variant A/C snv 8.0E-06 0.700 1.000 3 2006 2014
dbSNP: rs1057518677
rs1057518677
1 1.000 0.080 1 75733526 splice acceptor variant A/G snv 0.700 1.000 2 2005 2010
dbSNP: rs761317029
rs761317029
1 1.000 0.080 1 75750449 splice acceptor variant A/G snv 8.2E-06 0.700 1.000 1 2005 2005
dbSNP: rs1553123857
rs1553123857
1 1.000 0.080 1 75739978 splice acceptor variant A/C snv 0.700 0
dbSNP: rs1553125211
rs1553125211
1 1.000 0.080 1 75749417 splice acceptor variant A/C snv 0.700 0
dbSNP: rs1553127378
rs1553127378
1 1.000 0.080 1 75762691 splice acceptor variant G/C snv 0.700 0
dbSNP: rs875989869
rs875989869
1 1.000 0.080 1 75739979 splice acceptor variant G/A snv 0.700 0
dbSNP: rs879234543
rs879234543
1 1.000 0.080 1 75762690 splice acceptor variant A/C;T snv 0.700 0
dbSNP: rs941714381
rs941714381
1 1.000 0.080 1 75749418 splice acceptor variant G/A snv 7.0E-06 0.700 0
dbSNP: rs786204566
rs786204566
1 1.000 0.080 1 75732879 frameshift variant -/T delins 0.700 1.000 7 2001 2012
dbSNP: rs1057517356
rs1057517356
1 1.000 0.080 1 75734833 frameshift variant AGTA/- delins 0.700 1.000 6 2004 2017
dbSNP: rs786204642
rs786204642
1 1.000 0.080 1 75734849 frameshift variant CTGA/- delins 0.700 1.000 4 2005 2015
dbSNP: rs387906297
rs387906297
1 1.000 0.080 1 75761276 frameshift variant TTAG/- delins 0.700 1.000 3 1992 2010
dbSNP: rs1553127172
rs1553127172
1 1.000 0.080 1 75761165 frameshift variant TTGAACTAGCTAGAATGAGTTA/- del 0.700 1.000 2 1994 2010
dbSNP: rs1057516278
rs1057516278
1 1.000 0.080 1 75761289 frameshift variant -/G delins 0.700 1.000 1 2012 2012
dbSNP: rs1057517103
rs1057517103
1 1.000 0.080 1 75761131 frameshift variant AT/- delins 0.700 1.000 1 1997 1997
dbSNP: rs1057516463
rs1057516463
1 1.000 0.080 1 75761221 frameshift variant C/- del 0.700 0
dbSNP: rs1057516480
rs1057516480
1 1.000 0.080 1 75732860 frameshift variant T/- del 0.700 0