Source: ALL
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: rs1553645809
rs1553645809
BAP1
1 1.000 3 52407243 frameshift variant -/A delins 0.700 1.000 1 2015 2015
dbSNP: rs1553644815
rs1553644815
BAP1
2 1.000 3 52403449 frameshift variant -/A delins 0.700 0
dbSNP: rs1553645806
rs1553645806
BAP1
1 1.000 3 52407236 frameshift variant -/A delins 0.700 0
dbSNP: rs587781442
rs587781442
MRE11
4 0.882 0.200 11 94435846 frameshift variant -/GAAGTGGTAGGAAAAATGTC delins 7.0E-05 0.700 0
dbSNP: rs1553645136
rs1553645136
BAP1
1 1.000 3 52404517 frameshift variant -/T delins 0.700 0
dbSNP: rs1553645492
rs1553645492
BAP1
1 1.000 3 52405858 frameshift variant -/T delins 0.700 0
dbSNP: rs1553645497
rs1553645497
BAP1
1 1.000 3 52405864 frameshift variant -/T delins 0.700 0
dbSNP: rs1553645591
rs1553645591
BAP1
1 1.000 3 52406277 frameshift variant -/T delins 0.700 0
dbSNP: rs587782570
rs587782570
PALB2
3 0.925 0.080 16 23623033 frameshift variant -/T delins 4.0E-06 0.700 0
dbSNP: rs1060503735
rs1060503735
BAP1 ; PHF7
2 1.000 3 52409716 frameshift variant A/- delins 0.700 1.000 2 2011 2013
dbSNP: rs143901408
rs143901408
BAP1
1 1.000 3 52407235 stop gained A/C;G snv 1.6E-04 0.700 0
dbSNP: rs774730309
rs774730309
BAP1
2 1.000 3 52406251 splice donor variant A/G snv 8.0E-06 7.0E-06 0.700 1.000 2 2011 2013
dbSNP: rs80359406
rs80359406
BRCA2
5 0.851 0.200 13 32338209 frameshift variant AAAA/-;A;AA;AAA;AAAAA delins 7.0E-06 0.700 0
dbSNP: rs1559586374
rs1559586374
BAP1
1 1.000 3 52403415 splice donor variant C/- delins 0.700 1.000 3 2011 2016
dbSNP: rs1060503727
rs1060503727
BAP1
1 1.000 3 52406844 frameshift variant C/- delins 0.700 0
dbSNP: rs1060503731
rs1060503731
BAP1
1 1.000 3 52403729 frameshift variant C/- delins 0.700 0
dbSNP: rs1553646294
rs1553646294
BAP1 ; PHF7
1 1.000 3 52409585 frameshift variant C/- delins 0.700 0
dbSNP: rs1559593389
rs1559593389
BAP1 ; PHF7
1 1.000 3 52409868 frameshift variant C/- delins 0.700 0
dbSNP: rs397509414
rs397509414
BAP1
1 1.000 3 52403491 frameshift variant C/- del 0.700 0
dbSNP: rs587776877
rs587776877
BAP1
1 1.000 3 52403840 frameshift variant C/- delins 0.700 0
dbSNP: rs1553645838
rs1553645838
BAP1
1 1.000 3 52407398 splice donor variant C/A snv 0.700 1.000 2 2011 2013
dbSNP: rs1559593339
rs1559593339
BAP1 ; PHF7
1 1.000 3 52409841 splice donor variant C/A snv 0.700 1.000 2 2011 2013
dbSNP: rs1553645720
rs1553645720
BAP1
1 1.000 3 52406896 stop gained C/A snv 0.700 1.000 1 2015 2015
dbSNP: rs1060503726
rs1060503726
BAP1
1 1.000 3 52407210 stop gained C/A snv 0.700 0
dbSNP: rs1553645729
rs1553645729
BAP1
1 1.000 3 52406908 splice acceptor variant C/A;T snv 0.700 1.000 2 2011 2013