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: rs1559586782
rs1559586782
BAP1
1 1.000 3 52403670 frameshift variant TC/- delins 0.700 0
dbSNP: rs1559587104
rs1559587104
BAP1
1 1.000 3 52403824 stop gained G/A snv 0.700 0
dbSNP: rs1559589252
rs1559589252
BAP1
1 1.000 3 52405872 frameshift variant T/- delins 0.700 0
dbSNP: rs1559593389
rs1559593389
BAP1 ; PHF7
1 1.000 3 52409868 frameshift variant C/- delins 0.700 0
dbSNP: rs276174859
rs276174859
BRCA2
5 0.851 0.280 13 32339964 stop gained TC/AG mnv 0.700 0
dbSNP: rs375129361
rs375129361
BAP1
2 0.925 0.120 3 52408056 missense variant T/A;C snv 4.1E-06 0.700 0
dbSNP: rs387906849
rs387906849
BAP1
2 0.925 0.080 3 52405897 stop gained G/A snv 0.700 0
dbSNP: rs397509413
rs397509413
BAP1 ; PHF7
2 1.000 3 52409597 frameshift variant CC/-;CCC 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: rs587776878
rs587776878
BAP1
1 1.000 3 52402423 splice acceptor variant T/C snv 0.700 0
dbSNP: rs587776879
rs587776879
BAP1
1 1.000 3 52407318 splice acceptor variant T/C snv 4.0E-06 7.0E-06 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: rs587782443
rs587782443
PALB2
3 0.925 0.080 16 23636320 frameshift variant T/- delins 4.1E-06 7.0E-06 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: rs587782710
rs587782710
PMS2
3 1.000 7 5997376 frameshift variant GGAGTCAC/- delins 0.700 0
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: rs864622592
rs864622592
BAP1
1 1.000 3 52406258 stop gained G/A snv 0.700 0
dbSNP: rs886058705
rs886058705
BAP1
2 1.000 3 52404500 frameshift variant TA/- delins 0.700 0
dbSNP: rs916069743
rs916069743
BAP1 ; PHF7
1 1.000 3 52409864 stop gained C/A;T snv 0.700 0
dbSNP: rs387906848
rs387906848
BAP1
1 1.000 3 52402608 stop gained G/A snv 4.0E-06 0.700 1.000 3 2008 2014
dbSNP: rs1559586374
rs1559586374
BAP1
1 1.000 3 52403415 splice donor variant C/- delins 0.700 1.000 3 2011 2016
dbSNP: rs869025212
rs869025212
BAP1
6 0.827 0.200 3 52403428 frameshift variant G/- delins 0.700 1.000 3 2011 2015
dbSNP: rs1060503735
rs1060503735
BAP1 ; PHF7
2 1.000 3 52409716 frameshift variant A/- delins 0.700 1.000 2 2011 2013
dbSNP: rs112194987
rs112194987
BAP1
1 1.000 3 52405296 splice acceptor variant T/A;C snv 0.700 1.000 2 2011 2013