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: rs137852759
rs137852759
2 1.000 0.200 11 94437206 stop gained G/A;C;T snv 2.8E-05; 4.0E-06 0.700 1.000 5 1999 2013
dbSNP: rs137852761
rs137852761
4 0.882 0.320 11 94447288 stop gained G/A snv 6.0E-05 7.0E-05 0.700 1.000 4 2001 2013
dbSNP: rs371077728
rs371077728
6 0.827 0.320 11 94467821 stop gained G/A;C;T snv 5.2E-05; 4.0E-06; 7.2E-05 0.700 1.000 3 2014 2016
dbSNP: rs587780138
rs587780138
1 11 94490960 splice acceptor variant CATCACTATATT/- delins 1.2E-05 0.700 1.000 2 2011 2016
dbSNP: rs587781822
rs587781822
2 1.000 0.200 11 94435901 splice acceptor variant T/C snv 4.0E-06 0.700 1.000 2 2015 2016
dbSNP: rs587781384
rs587781384
3 0.925 0.200 11 94456323 stop gained C/A;T snv 3.2E-05 0.700 1.000 1 2016 2016
dbSNP: rs745677716
rs745677716
1 11 94445808 splice donor variant A/G snv 2.1E-05 0.700 1.000 1 2017 2017
dbSNP: rs759130031
rs759130031
3 0.925 0.200 11 94476288 splice donor variant C/T snv 2.0E-05 0.700 1.000 1 2011 2011
dbSNP: rs786202801
rs786202801
2 1.000 0.200 11 94429909 splice donor variant A/T snv 1.2E-05 7.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs951805101
rs951805101
1 11 94486068 stop gained A/C snv 4.0E-06 7.0E-06 0.700 1.000 1 2015 2015
dbSNP: rs1215450873
rs1215450873
1 11 94447231 stop gained G/A snv 4.0E-06 1.4E-05 0.700 0
dbSNP: rs1264516058
rs1264516058
1 11 94437234 frameshift variant G/- delins 4.0E-06 0.700 0
dbSNP: rs1295485913
rs1295485913
2 1.000 0.200 11 94435900 splice acceptor variant C/A snv 0.700 0
dbSNP: rs1376550081
rs1376550081
1 11 94459494 stop gained C/A snv 7.0E-06 0.700 0
dbSNP: rs1451215042
rs1451215042
1 11 94476404 splice acceptor variant C/T snv 2.1E-05 0.700 0
dbSNP: rs1555002387
rs1555002387
1 11 94437172 splice donor variant TTAC/- delins 0.700 0
dbSNP: rs1555002390
rs1555002390
1 11 94437175 splice donor variant A/G snv 0.700 0
dbSNP: rs1555002419
rs1555002419
1 11 94437206 frameshift variant G/- delins 0.700 0
dbSNP: rs1555002450
rs1555002450
1 11 94437237 splice acceptor variant T/G snv 0.700 0
dbSNP: rs1555005270
rs1555005270
1 11 94447228 frameshift variant TT/- delins 0.700 0
dbSNP: rs1555009931
rs1555009931
1 11 94461009 frameshift variant -/T delins 0.700 0
dbSNP: rs1555009945
rs1555009945
1 11 94461038 splice acceptor variant T/G snv 0.700 0
dbSNP: rs1555012083
rs1555012083
1 11 94467894 splice acceptor variant C/T snv 0.700 0
dbSNP: rs1555015413
rs1555015413
1 11 94479671 splice donor variant TA/CCC delins 0.700 0
dbSNP: rs1555017184
rs1555017184
1 11 94485940 frameshift variant CTGA/- delins 0.700 0