Source: CURATED

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs869025212
rs869025212
BAP1
0.827 0.200 3 52403428 frameshift variant G/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 5 2011 2016
dbSNP: rs1559586374
rs1559586374
BAP1
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: rs387906848
rs387906848
BAP1
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: rs869025212
rs869025212
BAP1
0.827 0.200 3 52403428 frameshift variant G/- delins
CUI: C3280492
Disease: TUMOR PREDISPOSITION SYNDROME
TUMOR PREDISPOSITION SYNDROME 		0.700 1.000 3 2011 2015
dbSNP: rs1060503735
rs1060503735
BAP1 ; PHF7
1.000 3 52409716 frameshift variant A/- delins
CUI: C3280492
Disease: TUMOR PREDISPOSITION SYNDROME
TUMOR PREDISPOSITION SYNDROME 		0.700 1.000 2 2011 2013
dbSNP: rs112194987
rs112194987
BAP1
1.000 3 52405296 splice acceptor variant T/A;C snv
CUI: C3280492
Disease: TUMOR PREDISPOSITION SYNDROME
TUMOR PREDISPOSITION SYNDROME 		0.700 1.000 2 2011 2013
dbSNP: rs1553644659
rs1553644659
BAP1
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: rs1553645164
rs1553645164
BAP1
1.000 3 52404550 stop gained G/A snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 2 2012 2016
dbSNP: rs1553645729
rs1553645729
BAP1
1.000 3 52406908 splice acceptor variant C/A;T snv
CUI: C3280492
Disease: TUMOR PREDISPOSITION SYNDROME
TUMOR PREDISPOSITION SYNDROME 		0.700 1.000 2 2011 2013
dbSNP: rs1553645838
rs1553645838
BAP1
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: rs1559586168
rs1559586168
BAP1
1.000 3 52403299 splice acceptor variant C/T snv
CUI: C3280492
Disease: TUMOR PREDISPOSITION SYNDROME
TUMOR PREDISPOSITION SYNDROME 		0.700 1.000 2 2011 2013
dbSNP: rs1559589809
rs1559589809
BAP1
1.000 3 52406378 splice acceptor variant T/C snv
CUI: C3280492
Disease: TUMOR PREDISPOSITION SYNDROME
TUMOR PREDISPOSITION SYNDROME 		0.700 1.000 2 2011 2013
dbSNP: rs1559591511
rs1559591511
BAP1
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
BAP1 ; PHF7
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
BAP1
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: rs776240891
rs776240891
BAP1
1.000 3 52406279 stop gained G/A;T snv 1.6E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 2 2015 2017
dbSNP: rs776240891
rs776240891
BAP1
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
BAP1
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
BAP1
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: rs1553645809
rs1553645809
BAP1
1.000 3 52407243 frameshift variant -/A delins
CUI: C3280492
Disease: TUMOR PREDISPOSITION SYNDROME
TUMOR PREDISPOSITION SYNDROME 		0.700 1.000 1 2015 2015
dbSNP: rs397509413
rs397509413
BAP1 ; PHF7
1.000 3 52409597 frameshift variant CC/-;CCC delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 1 2013 2013
dbSNP: rs869025212
rs869025212
BAP1
0.827 0.200 3 52403428 frameshift variant G/- delins
CUI: C4721806
Disease: Carcinoma, Basal Cell
Carcinoma, Basal Cell 		0.700 1.000 1 2015 2015
dbSNP: rs869025212
rs869025212
BAP1
0.827 0.200 3 52403428 frameshift variant G/- delins
CUI: C0345967
Disease: Malignant mesothelioma
Malignant mesothelioma 		0.700 1.000 1 2015 2015
dbSNP: rs869025212
rs869025212
BAP1
0.827 0.200 3 52403428 frameshift variant G/- delins
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma 		0.700 1.000 1 2015 2015
dbSNP: rs869025212
rs869025212
BAP1
0.827 0.200 3 52403428 frameshift variant G/- delins
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		0.700 1.000 1 2015 2015