BAP1, BRCA1 associated protein 1, 8314

N. diseases: 299; N. variants: 72
Disease: TUMOR PREDISPOSITION SYNDROME ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs387906848
rs387906848 		1.000 3 52402608 stop gained G/A snv 4.0E-06
CUI: C3280492
Disease: TUMOR PREDISPOSITION SYNDROME
TUMOR PREDISPOSITION SYNDROME 		0.700 1.000 3 2008 2014
dbSNP: rs1553644659
rs1553644659 		1.000 3 52402787 stop gained T/A snv
CUI: C3280492
Disease: TUMOR PREDISPOSITION SYNDROME
TUMOR PREDISPOSITION SYNDROME 		0.700 1.000 2 2012 2015
dbSNP: rs776240891
rs776240891 		1.000 3 52406279 stop gained G/A;T snv 1.6E-05
CUI: C3280492
Disease: TUMOR PREDISPOSITION SYNDROME
TUMOR PREDISPOSITION SYNDROME 		0.700 1.000 2 2011 2013
dbSNP: rs1253151209
rs1253151209 		1.000 3 52408551 stop gained G/A;T snv 7.0E-06
CUI: C3280492
Disease: TUMOR PREDISPOSITION SYNDROME
TUMOR PREDISPOSITION SYNDROME 		0.700 1.000 1 2012 2012
dbSNP: rs1553645720
rs1553645720 		1.000 3 52406896 stop gained C/A snv
CUI: C3280492
Disease: TUMOR PREDISPOSITION SYNDROME
TUMOR PREDISPOSITION SYNDROME 		0.700 1.000 1 2015 2015
dbSNP: rs1060503726
rs1060503726 		1.000 3 52407210 stop gained C/A snv
CUI: C3280492
Disease: TUMOR PREDISPOSITION SYNDROME
TUMOR PREDISPOSITION SYNDROME 		0.700 0
dbSNP: rs1060503744
rs1060503744 		1.000 3 52408548 stop gained T/A snv
CUI: C3280492
Disease: TUMOR PREDISPOSITION SYNDROME
TUMOR PREDISPOSITION SYNDROME 		0.700 0
dbSNP: rs1064795638
rs1064795638 		0.851 0.080 3 52403251 stop gained G/A snv
CUI: C3280492
Disease: TUMOR PREDISPOSITION SYNDROME
TUMOR PREDISPOSITION SYNDROME 		0.700 0
dbSNP: rs143901408
rs143901408 		1.000 3 52407235 stop gained A/C;G snv 1.6E-04
CUI: C3280492
Disease: TUMOR PREDISPOSITION SYNDROME
TUMOR PREDISPOSITION SYNDROME 		0.700 0
dbSNP: rs1553644949
rs1553644949 		1.000 3 52403766 stop gained G/T snv
CUI: C3280492
Disease: TUMOR PREDISPOSITION SYNDROME
TUMOR PREDISPOSITION SYNDROME 		0.700 0
dbSNP: rs1553645117
rs1553645117 		1.000 3 52404489 stop gained CGTCATCCTCAT/- delins
CUI: C3280492
Disease: TUMOR PREDISPOSITION SYNDROME
TUMOR PREDISPOSITION SYNDROME 		0.700 0
dbSNP: rs1553645164
rs1553645164 		1.000 3 52404550 stop gained G/A snv
CUI: C3280492
Disease: TUMOR PREDISPOSITION SYNDROME
TUMOR PREDISPOSITION SYNDROME 		0.700 0
dbSNP: rs1553645725
rs1553645725 		1.000 3 52406901 stop gained C/T snv
CUI: C3280492
Disease: TUMOR PREDISPOSITION SYNDROME
TUMOR PREDISPOSITION SYNDROME 		0.700 0
dbSNP: rs1553646284
rs1553646284 		1.000 3 52409558 stop gained G/A snv
CUI: C3280492
Disease: TUMOR PREDISPOSITION SYNDROME
TUMOR PREDISPOSITION SYNDROME 		0.700 0
dbSNP: rs1559587104
rs1559587104 		1.000 3 52403824 stop gained G/A snv
CUI: C3280492
Disease: TUMOR PREDISPOSITION SYNDROME
TUMOR PREDISPOSITION SYNDROME 		0.700 0
dbSNP: rs387906849
rs387906849 		0.925 0.080 3 52405897 stop gained G/A snv
CUI: C3280492
Disease: TUMOR PREDISPOSITION SYNDROME
TUMOR PREDISPOSITION SYNDROME 		0.700 0
dbSNP: rs864622592
rs864622592 		1.000 3 52406258 stop gained G/A snv
CUI: C3280492
Disease: TUMOR PREDISPOSITION SYNDROME
TUMOR PREDISPOSITION SYNDROME 		0.700 0
dbSNP: rs916069743
rs916069743 		1.000 3 52409864 stop gained C/A;T snv
CUI: C3280492
Disease: TUMOR PREDISPOSITION SYNDROME
TUMOR PREDISPOSITION SYNDROME 		0.700 0
dbSNP: rs375129361
rs375129361 		0.925 0.120 3 52408056 missense variant T/A;C snv 4.1E-06
CUI: C3280492
Disease: TUMOR PREDISPOSITION SYNDROME
TUMOR PREDISPOSITION SYNDROME 		0.700 0
dbSNP: rs1559586374
rs1559586374 		1.000 3 52403415 splice donor variant C/- delins
CUI: C3280492
Disease: TUMOR PREDISPOSITION SYNDROME
TUMOR PREDISPOSITION SYNDROME 		0.700 1.000 3 2011 2016
dbSNP: rs1553645838
rs1553645838 		1.000 3 52407398 splice donor variant C/A snv
CUI: C3280492
Disease: TUMOR PREDISPOSITION SYNDROME
TUMOR PREDISPOSITION SYNDROME 		0.700 1.000 2 2011 2013
dbSNP: rs1559591511
rs1559591511 		1.000 3 52408459 splice donor variant CAGAGTCCAGCAGACCT/- del
CUI: C3280492
Disease: TUMOR PREDISPOSITION SYNDROME
TUMOR PREDISPOSITION SYNDROME 		0.700 1.000 2 2011 2013
dbSNP: rs1559593339
rs1559593339 		1.000 3 52409841 splice donor variant C/A snv
CUI: C3280492
Disease: TUMOR PREDISPOSITION SYNDROME
TUMOR PREDISPOSITION SYNDROME 		0.700 1.000 2 2011 2013
dbSNP: rs774730309
rs774730309 		1.000 3 52406251 splice donor variant A/G snv 8.0E-06 7.0E-06
CUI: C3280492
Disease: TUMOR PREDISPOSITION SYNDROME
TUMOR PREDISPOSITION SYNDROME 		0.700 1.000 2 2011 2013
dbSNP: rs1060503750
rs1060503750 		1.000 3 52408473 splice donor variant C/A;T snv
CUI: C3280492
Disease: TUMOR PREDISPOSITION SYNDROME
TUMOR PREDISPOSITION SYNDROME 		0.700 0