BAP1, BRCA1 associated protein 1, 8314

N. diseases: 299; N. variants: 72
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: rs1553645809
rs1553645809 		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: rs375129361
rs375129361 		0.925 0.120 3 52408056 missense variant T/A;C snv 4.1E-06
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2013 2013
dbSNP: rs387906849
rs387906849 		0.925 0.080 3 52405897 stop gained G/A snv
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma 		Neoplasms; Eye Diseases 0.010 1.000 1 2011 2011
dbSNP: rs397509413
rs397509413 		1.000 3 52409597 frameshift variant CC/-;CCC delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 1 2013 2013
dbSNP: rs869025212
rs869025212 		0.827 0.200 3 52403428 frameshift variant G/- delins
CUI: C0345967
Disease: Malignant mesothelioma
Malignant mesothelioma 		Neoplasms; Respiratory Tract Diseases 0.700 1.000 1 2015 2015
dbSNP: rs869025212
rs869025212 		0.827 0.200 3 52403428 frameshift variant G/- delins
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2015 2015
dbSNP: rs869025212
rs869025212 		0.827 0.200 3 52403428 frameshift variant G/- delins
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma 		Neoplasms; Eye Diseases 0.700 1.000 1 2015 2015
dbSNP: rs869025212
rs869025212 		0.827 0.200 3 52403428 frameshift variant G/- delins
CUI: C4721806
Disease: Carcinoma, Basal Cell
Carcinoma, Basal Cell 		Neoplasms 0.700 1.000 1 2015 2015
dbSNP: rs878854741
rs878854741 		3 52406826 splice region variant T/G snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 1 2017 2017
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: rs1060503727
rs1060503727 		1.000 3 52406844 frameshift variant C/- delins
CUI: C3280492
Disease: TUMOR PREDISPOSITION SYNDROME
TUMOR PREDISPOSITION SYNDROME 		0.700 0
dbSNP: rs1060503731
rs1060503731 		1.000 3 52403729 frameshift variant C/- delins
CUI: C3280492
Disease: TUMOR PREDISPOSITION SYNDROME
TUMOR PREDISPOSITION SYNDROME 		0.700 0
dbSNP: rs1060503732
rs1060503732 		1.000 3 52408607 splice acceptor variant C/G snv
CUI: C3280492
Disease: TUMOR PREDISPOSITION SYNDROME
TUMOR PREDISPOSITION SYNDROME 		0.700 0
dbSNP: rs1060503735
rs1060503735 		1.000 3 52409716 frameshift variant A/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1060503743
rs1060503743 		1.000 3 52403193 frameshift variant T/- delins
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: rs1060503750
rs1060503750 		1.000 3 52408473 splice donor variant C/A;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
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
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: rs1351986946
rs1351986946 		1.000 3 52403786 frameshift variant TT/- delins 4.0E-06
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: rs1553644634
rs1553644634 		1.000 3 52402675 splice acceptor variant C/T snv
CUI: C3280492
Disease: TUMOR PREDISPOSITION SYNDROME
TUMOR PREDISPOSITION SYNDROME 		0.700 0
dbSNP: rs1553644815
rs1553644815 		1.000 3 52403449 frameshift variant -/A delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1553644815
rs1553644815 		1.000 3 52403449 frameshift variant -/A delins
CUI: C3280492
Disease: TUMOR PREDISPOSITION SYNDROME
TUMOR PREDISPOSITION SYNDROME 		0.700 0
dbSNP: rs1553644922
rs1553644922 		1.000 3 52403681 frameshift variant G/- delins
CUI: C3280492
Disease: TUMOR PREDISPOSITION SYNDROME
TUMOR PREDISPOSITION SYNDROME 		0.700 0