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: rs756235547
rs756235547
1 3 180659582 splice acceptor variant T/C snv 1.2E-04 8.4E-05 0.700 1.000 4 2011 2013
dbSNP: rs397515392
rs397515392
2 1.000 0.120 3 180661860 splice donor variant C/G snv 1.6E-04 7.0E-05 0.700 1.000 3 2011 2013
dbSNP: rs587778822
rs587778822
2 1.000 0.120 3 180651496 frameshift variant T/- delins 1.4E-05 0.700 1.000 3 2011 2014
dbSNP: rs1560079213
rs1560079213
1 3 180616697 splice acceptor variant T/- del 0.700 1.000 2 2011 2013
dbSNP: rs201780665
rs201780665
1 3 180642072 stop gained G/A;T snv 7.6E-05; 8.1E-06 0.700 1.000 2 2013 2014
dbSNP: rs587778820
rs587778820
2 1.000 0.120 3 180619334 frameshift variant T/- delins 2.6E-05 1.4E-05 0.700 1.000 2 2011 2016
dbSNP: rs753580394
rs753580394
1 3 180644119 splice donor variant C/T snv 6.8E-06 0.700 1.000 2 2011 2013
dbSNP: rs773801386
rs773801386
2 1.000 0.120 3 180654861 frameshift variant GT/- delins 4.2E-05 0.700 1.000 2 1990 2013
dbSNP: rs1007345781
rs1007345781
1 3 180616604 frameshift variant GT/- delins 8.7E-06 2.8E-05 0.700 1.000 1 2013 2013
dbSNP: rs577069249
rs577069249
1 3 180650140 intron variant T/C snv 5.0E-04 0.700 1.000 1 2011 2011
dbSNP: rs1210953680
rs1210953680
1 3 180652161 splice donor variant A/T snv 0.700 0
dbSNP: rs1275367324
rs1275367324
1 3 180651409 frameshift variant C/- del 5.9E-06 0.700 0
dbSNP: rs1285431486
rs1285431486
1 3 180642111 frameshift variant C/- del 4.0E-06 0.700 0
dbSNP: rs1415346246
rs1415346246
1 3 180659577 splice acceptor variant AACT/- delins 4.0E-06 0.700 0
dbSNP: rs1553800956
rs1553800956
1 3 180616551 stop gained C/A snv 0.700 0
dbSNP: rs1553803540
rs1553803540
1 3 180641992 splice donor variant C/T snv 0.700 0
dbSNP: rs1553804100
rs1553804100
1 3 180647254 intron variant T/C snv 0.700 0
dbSNP: rs1553804209
rs1553804209
1 3 180648215 frameshift variant -/T delins 0.700 0
dbSNP: rs1553804220
rs1553804220
1 3 180648285 frameshift variant C/- del 0.700 0
dbSNP: rs1553804640
rs1553804640
1 3 180651533 splice acceptor variant C/- delins 0.700 0
dbSNP: rs1553805740
rs1553805740
1 3 180659694 frameshift variant -/GT delins 0.700 0
dbSNP: rs1553805885
rs1553805885
1 3 180660635 frameshift variant C/- del 0.700 0
dbSNP: rs1560086701
rs1560086701
1 3 180641995 frameshift variant AT/- delins 0.700 0
dbSNP: rs1560090006
rs1560090006
1 3 180652246 frameshift variant AGTGGCT/- del 0.700 0
dbSNP: rs1560092160
rs1560092160
1 3 180659715 frameshift variant CT/- delins 0.700 0